20th Anniversary Blair County Auction! | September 10, 2016

It’s Auction Season!

Join us on September 10, 2016 in celebrating the 20th anniversay of our Blair County Annual Public Benefit Auction and Bake Sale! Come out for a day of fun, food and fellowship at our last auction of 2016!


Lots of food, including pizza, was available at the benefit auction for the Clinic for Special Children Saturday.

Handmade quilts, handcrafted furniture, wooden crafts, sporting goods, handmade toys and garden plants will be available for buyers at the auction. A variety of food choices will be featured including chicken barbecue, freshly made pies, donuts, whoopie pies, ice cream and more! The proceeds from the annual benefit auctions are a major source of revenue for both the Clinic for Special Children and the Central PA Clinic!

September 10, 2016 | Blair County Auction
Morrison’s Cove Produce
174 Windy Acres Lane
Roaring Springs, PA

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Featured Story: Clinic in a Cornfield

The Clinic for Special Children is featured in the January 2016 issue of Genome Magazine, detailing how a clinic in a cornfield, nestled among the rural backroads of Strasburg, PA, blends simplicity with cutting-edge science.

Highlighted is an inspiring personal account of one family’s difficult journey with Pretzel Syndrome and the clinic’s remarkable impact through their diagnosis, treatment and personal influence on both this family and a genetically vulnerable community predisposed to rare genetic diseases.

Dr. Holmes Morton walks us through his co-founding of the Clinic for Special Children with Caroline Morton, motivated by an ‘irrational, dysfunctional healthcare system’ that did not cater to two generally isolated populations with a shared disposition to genetic disease: the Amish and Mennonites. Though the Clinic was designed for the specialized screening, diagnosis and inexpensive treatment for those affected and injured by GA-1 and MSUD, the clinic has since become a medical home for families living with many other genetically inherited diseases prevalent among the Amish and Mennonites. Since 1989, the specialization of our clinic has become not just a model of ingenuity and servitude, but the standard of care in the U.S.

“One of the real values of this place is we have a kind of institutional memory that…allows us to have insight into these diseases that very few places have,” Dr. Morton says. “It is a good example of chance favoring the prepared mind.”

Feature Story: “Genomics for the People”


  Three years ago, the Editor-in-Chief of Scientific American visited the clinic and offered me the opportunity to write a feature article for the magazine. When I was a young boy, Scientific American nurtured my curiosity and growing love of science. It was this magazine more than any other that started me on the path to becoming a doctor.Scientific American_Cover

The opportunity to write my personal reflections about the clinic was a privilege, affording me the chance to move other young people toward a career in the healing arts and help them glimpse its special sorrows and joys.

I am delighted to share a story woven together by the many contributions of dedicated parents, colleagues, and collaborators. But most of all, the story is about patients and the people who care about them – they inspire us to extend the limits of imagination in ways that reshape how we think about health.

The “web exclusive” is free by clicking the magazine cover to the right. You can purchase a copy of the full article online now or on newsstands the week of Nov. 23.

Thank you to all who make this work possible – the clinic depends on your goodwill and financial support.  I hope the article honors the special covenant we share.

Yours Sincerely,

Kevin formal sig



Kevin A. Strauss, MD

Scientific American_Web Slide_3








Photographs used with permission by Grant Delin


A Handbook for Rare Disease

As CSC discovers new disease and uncovers breakthroughs on existing conditions, our clinical team faces a growing challenge: How do we provide parents with the best information available to care for children with complex medical needs?

CSC expanded the popular “Family Education Day” series two years ago to cover more diseases and touch more families. We now hold an average of 10-12 education days per year where families, clinicians, and researchers come together in common purpose.

Yet, question and answer sessions often reveal more questions than answers for families with vulnerable children.

The CSC team dreamed of a handbook format that could be replicated for the most common disorders treated at the clinic. The handbook could serve as a vital reference guide, empowering parents with quick answers to their child’s care that are grounded in the most current clinical guidelines and research findings. Thanks to the Howard Hughes Medical Institute, such a handbook came to life this year for a disease called congenital adrenaHandbook - Front Coverl hyperplasia or CAH.

We are LONG overdue in sharing this wonderful news, and Franklin & Marshall College wrote a piece last April as the project was developing: http://www.fandm.edu/news/latest-news/2014/04/14/from-classroom-to-pressroom-students-pen-handbook-on-disease.

For now, the book can be obtained through CSC or Franklin & Marshall, but the team hopes to make it available for purchase online.

Like so many collaborative projects between CSC and Franklin & Marshall, undergraduate students made the crucial leap to solving real-world problems – a powerful lesson in application that will help them no matter their chosen field.

CAH handbook 5_15 (dragged)“There is no greater joy as a doctor and educator than to see bright young students interacting with the patients and families we serve, tackling complicated problems and building trust. We could not have asked for a better outcome for our students and families,” says Dr. Strauss.

MANY thanks go to Professor Ellie Rice, Carey Sentman, Mandi Tembo, and to all the other students who worked tirelessly on the book. Most of all, we thank the families who help to make this work possible!


DDx3x Family Day

Family from across the country came together last week at CSC, and LNP News did a beautiful job capturing the day with two great articles and accompanying photography! Diagnosis is the most important step to uncovering life-giving treatments, and the clinic is glad that we could be one part in the DDx3x story!

Special thanks to Cindy Stauffer, Erin Negley, and Dan Marschka. You can find both articles here:




Summer at CSC with Great Students!

Our 2015 summer students represent a diversity of interests and talents and exemplify our mission of research and education.

We are honored to host the following three students:

Michael Setzer (pictured left) is a 2014 graduate of Carnegie Mellon University with a bachelor of science in technical writing and biological sciences. He is also a current student in the Johns Hopkins University/National Human Genome Research Institute (NHGRI) Genetic Counseling Program. Michael is spending 8 weeks at the clinic, and he has already developed a new family report for exome sequencing results and has helped our in-house genetic counselor Karlla Brigatti organize three different research projects.

Sarah Wang (pictured middle) is a prospective 2016 graduate of the Rochester Institute of Technology with a bachelor of science in biotechnology. Sarah is spending 10 weeks as an independent researcher, working on a genetic sequencing project and a family mapping study for Fragile X Syndrome. Dr. Puffenberger is very glad for the extra help! Sarah contacted the clinic last fall with a specific interest in epigenetic studies and designed her own program.

Ashley Geleta (pictured right) is a 2015 graduate of Franklin & Marshall College with a double major in biology and public health. She is also an Eyler Fellow, a 10-week program funded by Franklin & Marshall College for graduates to pursue research in biology and/or biochemistry. Ashley is working with our outgoing laboratory technician and former Avery Fellow Abby Benkert on Congenital Adrenal Hyperplasia. Specifically, Ashley is helping to develop a new assay for ACTH, an important biochemical marker for proper disease management.

“Lectures and laboratories are helpful, but nothing beats the immersive experience to learn science by addressing real questions in translational medicine affecting real families in real time,” says Karlla Brigatti, Genetic Counselor at CSC. “The opportunity these students have to engage directly with the the families we serve forges their approach in the practice of medicine. It gives them the tools and confidence to become the next generation of science leaders.”

A little fun with a photo of Drs. Puffenberger, Strauss, and Morton!

Field of Genes_2015

A Key Addition to our Board of Directors

We are very pleased to announce the appointment of Richard A. Fluck, PhD to the clinic’s Board of Directors!

Dr. Fluck has a 41-year career at Franklin & Marshall College, one of the clinic’s most important partners in Lancaster County.

Dick worked in the biology department for more than 30 years, teaching courses such as Cell Biology, Cell Physiology, Functions of the Human Body, and a First-year Seminar about Tuberculosis. From 2005-2011, Dick served as the Associate Dean of the Faculty, where he was integrally involved in establishing F&M and CSC’s partnership. Dick’s leadership also helped to shepherd the first successful proposal to the Howard Hughes Medical Institute (HHMI), which continues to support education and research between the college and the clinic.

Today, Dick serves in the Office of College Grants at Franklin & Marshall. He also serves on the Lancaster General Health Institutional Review Board (IRB) as an unaffiliated member, representing the community at large. All CSC research projects fall under the LG Health IRB, which reviews and approves studies in order to protect the patients we serve.

Dick is a proud mid-westerner whose father worked as a corn breeder in Minnesota and Iowa. He and his wife Sandy reside in Lancaster City and are active urban gardeners. Dick and Sandy have three children and four grandchildren from Los Angeles, California to Lancaster County to Falmouth, Massachusetts.

Please help us to welcome Dick to the Clinic for Special Children! We are grateful for his academic rigor, scientific breadth, community spirit, and longstanding friendship.


2015-2016 Avery Fellow: Kendra Poirier

We are very pleased to announce our 4th Avery Fellow, Kendra Poirier!

Born and raised in Hilltown, PA, Kendra comes to CSC from Franklin & Marshall College with a bachelor’s of arts in Public Health and Biology and a minor in German. She spent three years as a varsity swimmer and now plays rugby for F&M.

No stranger to pediatrics and research, Kendra volunteered in Dr. Jinks’ research lab at F&M during her junior year. She also worked at Women and Babies Hospital at Lancaster General Health within the Performance Improvement Department and spent time in the neonatDSCF4985al intensive care unit. Last summer, She was an intern at the Hershey Medical Center within the biochemistry department. Kendra is now finishing her coursework at F&M, including CSC’s “Plain People and Modern Medicine” capstone biology seminar.

Kendra’s fellowship year will focus on public health research, and she will work closely with Dr. Katie Williams.

Please help us to welcome Kendra to our staff!

Education, Research, and Children in Need

A laboratory case study from our 2014 annual report

Abby Benkert was no stranger to the Clinic for Special Children. As an undergrad at Franklin & Marshall College, Abby worked with Professor Rob Jinks on cellular studies, helping CSC to uncover fundamental principles of newly discovered genetic disease.

Her interest grew in the clinic, and she had her sights set on medical school.

A growing number of talented students like Abby decide to take a gap year between undergrad and medical school to bolster their education or embark on a unique experience. Fortunately, CSC offered Abby the perfect opportunity to do both.

Our Avery Fellowship provides talented students with a deep dive in the clinic’s integrated model for primary care and research. Avery Fellows spend one full year at CSC as a salaried employee, including access to a flexible research budget.

Abby jumped right into an independent research project on Congenital Adrenal Hyperplasia (CAH). Dr. Strauss hypothesized that the current treatment could be improved, but he needed more data, a better diagnostic testing methodology, and a bright mind to tackle the project.

She spent many hours on back country roads in the wee hours of the morning to collect blood samples from patients. The project expanded, and Abby received generous backing to continue her work from fellow alumnus of F&M, Joan Fallon of Curemark, LLC.

Abby also developed a new assay for monitoring dehydroepiandrosterone (DHEA) steroid levels that was fast, accurate, and affordable. Close contact with patients and families keeps research and diagnostics rooted in practical and accessible solutions for the communities we serve.

The clinic was fortunate to keep Abby for one extra year as a laboratory technician. Her scientific paper on CAH will soon be submitted for publication, but most importantly, patients suffering with CAH have a better treatment protocol and diagnostic tool as a result of Abby’s work.

“CAH children inspired me to look beyond established treatments so that each family has access to the best possible care and long-term outcome,” says Benkert.

By design, it is difficult to separate the clinic’s laboratory and clinical functions. Abby’s work on Congenital Adrenal Hyperplasia is a perfect example of how patient care drives research, and research drives patient care. It is our hope that the clinic can foster Avery Fellows in perpetuity as the future clinician-scientists of tomorrow.

What is wrong with our child?

A clinical case study from our 2014 annual report

Eight months ago, a family came to our clinic as a referral from a trusted friend and provider at a nearby children’s hospital. Just as we have done for countless families for more than 25 years, the Clinic for Special Children sought to answer a deceptively simple question: “What is wrong with our child?”

The family lives just 50 minutes east by car but is a cultural ocean away from our typical Old Order Amish and Mennonite clientele. Arriving with a healthy dose of skepticism from the suburbs of Philadelphia, the family entered our post and beam, barn-like facility to find simple furniture, an Amish family waiting patiently, and an unnerving quietness. Is this really the state-of-the-art pediatric genetic facility that came so highly recommended?

The family had already taken their child to see experts at all of the world-class centers in the surrounding area, but they were left without a diagnosis or a window of hope for treatment. Quality health insurance, financial means, and an expansive network of friends were also of little help when it came to their child’s undiagnosed problem. It was clear the child was delayed, but special tutors and diagnostic testing did not solve the problem. After everything they had tried, this cornfield clinic in Strasburg, PA was worth a shot.

In the case of the new family, there was no smoking gun. A 2-3 hour initial office visit did not provide any immediate answers. During the weekly patient review meeting where clinicians and scientists review cases together, the team agreed that the best hope for the child was exome sequencing, determining the genetic code for approximately 1% of the genome that encodes proteins. It was an educated guess, 25 years in the making, and had no guarantee of success.

Last week, the family came back for a meeting with the clinic’s medical director and genetic counselor. The results were carefully explained, and it was made clear to all involved that their long journey to a cornfield clinic was really a new direction, not a conclusion. A promising genetic variant was found but the significance of the variant is currently unknown.  Their child will be part of a study with a handful of other children identified throughout the country. There are no treatments available, and there is no specialist waiting to greet them back at the modern research hospital. But a genetic diagnosis is a lifeline – the first important answer to the question, “What is wrong with my child?”

The family’s story is far from over. Who will help them to navigate their child’s care? Who will follow through on routine care after the research has concluded and the papers are published? This is where the rubber meets the road for so many families in search of help, and it is where the Clinic for Special Children has thrived against all odds. This child is no different than the 17 Amish children diagnosed with GA1 25 years ago. Rather, this child only confirms the need for more primary care centers focused on personalized medicine.

“If you want to practice personalized, genomic medicine, you have to make it personal,” says Medical Director, Kevin A. Strauss, MD. “The clinic strives to integrate powerful technological advances into the care of the most vulnerable among us. It is my hope that the Clinic for Special Children will help others find the humility to ask tough questions of our medical system, so that more communities have access to the best care. The technologies exist – we just have to learn how to close the implementation gap.”

Lancaster County Benefit Auction!

It’s the last auction of the season! The day begins with breakfast at 7:00AM and end when the last item is sold. Don’t forget your chicken BBQ!

Lancaster County – Saturday, September 19th

Leola Produce Auction

135 Brethren Church Road

Leola, PA 17540

→ Directions

→ Sale Bill

→ Auction Reminder

The stunning Nautical Star Quilt by Magdalena Stoltzfus – up for bid at the Lancaster County auction! 
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CSC’s 2014 Annual Report

This is the first time the clinic has offered a publicly accessible annual report. We want to share our successes, challenges, and opportunities, while making our finances and needs transparent. We recognize trust is the bedrock of the clinic’s future – Trust between patients and staff, trust between supporters and the institution, and trust between those who need care and those willing and able to offer it. This report, and ones to follow, is intended to cultivate that trust.

We look forward to a bright 2015 as we strive to continue to lead the effort to apply advances in medical knowledge into strategies that promote the health of children, families, and communities.

DOWNLOAD HERE:CSC_FY'14-Annual-Report_1

New Hope and Collaborative Support from UGA & WM Keck

PICTURED ABOVE: Joshua Wesalo presents at CSC for a GM3 Family Education Day, 2014

New hope and collaborative support for a devastating neurological disorder

Strasburg, PA – Two years ago, Dr. Michael Tiemeyer 30-26571-Tiemeyer1from the University of Georgia visited CSC for a family meeting about GM3 synthase deficiency, a devastating neurological disorder found in the Old Order Amish population.

CSC was already managing several patients suffering from GM3 and was working with several other collaborators in hopes of finding a life-giving therapy. Tiemeyer’s team at the Complex Carbohydrate Research Center had sophisticated methods for measuring ganglioside levels that would help advance the research. Tiemeyer and his colleagues were quick to offer their help, and families were grateful for this new hope.

As research on GM3 synthase deficiency continued, Tiemeyer contacted Dr. Strauss about a pending grant application with the W. M. Keck Foundation. Professor Tiemeyer wanted to include CSC in the application as a collaborative partner, and Dr. Strauss wrote a letter of support for Tiemeyer’s work.

In January, the W. M. Keck Foundation awarded the $1.8 million grant to Tiemeyer and his colleagues, which includes $120,000 for CSC’s collaborative efforts.

“Dr. Tiemeyer and the team at the Complex Carbohydrate Research Center are generous collaborators in an effort to more effectively treat GM3 synthase deficiency. Partners like Dr. Tiemeyer extend the scope of our research in ways that help patient and families, while adding real support to the operation of CSC,” says Dr. Strauss. “As a small nonprofit serving a vulnerable community, we are fortunate to have such a diverse and talented network of collaborators like Dr. Tiemeyer and his colleagues at the University of Georgia.”

GM3 synthase deficiency remains a difficult disease for many families, but CSC has built lasting relationships and avenues of support to continue this important work.

About the Keck Foundation

Based in Los Angeles, the W. M. Keck Foundation was established in 1954 by the late W. M. Keck, founder of the Superior Oil Company. The Foundation’s grant making is focused primarily on pioneering efforts in the areas of medical, science and engineering research. The Foundation also maintains an undergraduate education program that promotes distinctive learning and research experiences for students in the sciences and in the liberal arts, and a Southern California Grant Program that provides support for the Los Angeles community, with a special emphasis on children and youth from low-income families, special needs populations and safety-net services. For more information, please visit www.wmkeck.org.

Growth and Progress for Patient Care

As 2015 approaches and we conclude our 25th anniversary year, the clinic has added two new positions that reflect steady progress for the care and support of our patients!

Karlla Brigatti joined CSC this past October as our first genetic counselor. With Karlla’s help, the families we serve will gain a deeper understanding of new diagnosis, risks within their family, and how our team is working towards treatments and preventative strategies. Karlla is also helping to organize research efforts with Drs. Strauss and Puffenberger so that we can find answers faster and make the most effective use of advanced technologies.

Mindy Kuebler joined CSC this past November as our second laboratory technician. With the growth of the clinic’s molecular lab (DNA testing), Mindy brings a vital skill set to our diagnostic capabilities. She is responsible for daily clinical research testing including DNA isolation, sanger sequencing, cytoscan arrays, and light scanner assays. Mindy is also helping to verify samples sent for exome sequencing, our most advanced tool for identifying new disorders. Last but not least, Mindy is now organizing the clinic’s journal club, a new weekly ritual for our clinicians and scientists. New scientific literature is presented and discussed to keep our team up to date with the latest advances!

These wonderful additions to the team are made possible through a new collaborative initiative with Regeneron Pharmaceuticals. With the company’s help, we are now receiving exome sequencing for the next 3 years and operating support to fund our most important asset – our talented staff. Despite all the progress made, 50% of our patients are left without a molecular diagnosis. Regeneron has invested in our unique approach to clinical care and research so that we can begin to uncover a molecular diagnosis for many more children.

Patient care at CSC begins with diagnosis and prevention!

3 years of “Hearing” with Nemours

In November of 2011, a team from Nemours Alfred I. duPont Hospital for Children came to see patients at the clinic suffering from hearing loss. 3 years later, we have worked together to help over 60 families and have published two peer-reviewed scientific papers, including a novel hearing loss gene.

“The Clinic for Special Children is a unique place of healing that offers the opportunity to identify and habilitate hearing loss in a population of children that could not otherwise be served,” says Dr. Robert O’Reilly, pediatric otologist at Nemours. “The clinic’s paradigm for effective use of medical resources has pushed our team to develop new modes of delivery for cochlear implant patients, which serves as a model for the broader population.”

This year, Nemours’ annual “Hear We Go” 5K raised over $20,000 for hearing research, family education, and much needed equipment. To help the clinic, Dr. O’Reilly and the team from Nemours have donated funds to supply the clinic with state of the art audiologic testing and hearing aid dispensing equipment. hearwego

“The clinic is a special place for me because our research efforts are always driven by patients and families,” says Dr. Thierry Morlet, Head of Auditory Physiology & Psychoacoustics Research Lab. “Nemours and clinic staff work collaboratively, combining pediatric sub-specialty care with the latest in hearing research technologies.”

Patients at the clinic now come for regular check-ups with our doctors and then walk down the hall to visit a team of sub-specialists like Drs. O’Reilly and Morlet. Collaboration and sub-specialty integration have become the key ingredients to solving complex problems for our patients. From early hearing interventions like digital hearing aids and cochlear implants to the discovery of novel hearing loss genes – our clinical care continues to drive research, and our research leads to better outcomes for children.

We are grateful for the generous support and collaborative spirit from our friends at Nemours, and we look forward to many more successful translational research projects to come!

PICTURED L-R: Erin Field, PA-C, Robert O’Reilly, MD, Thierry Morlet, PhD, and Ethan Basset, MD

Thank you for a Record Auction Season!

30,000 donuts sold, 900 lbs. of whoopie pie filling prepared, chicken BBQ sold out by 1:00PM, over 1,650 bidders and over 7,000 attendees

Just a few unbelievable statistics from our Lancaster County benefit auction! We are grateful for the support of so many friends last Saturday – a record year in every way. Our staff was especially moved by Dr. Puffenberger’s first-ever auction speech, and we all feel privileged to serve special children throughout Pennsylvania, across the country, and around the world.

On the clinic’s 25th anniversary, we thank you for all that you do to support our mission.


A Day in the Lab

I feel a prick as the needle is quickly inserted. Red trickles out as the sun moves in, beginning my day in the lab at the clinic.

My goal is to learn about genetic testing – why that is so important and how the clinic does it in a way that differs from the majority of research labs. The children come with nothing more than symptoms, the doctors have to tell them why those are showing up, and the lab is the place to find the answers. And I am acting the role of geneticist, biochemist, and laboratory technician. But since it is my DNA, I am also playing the part of patient.

Here’s what I found.

-Genetic testing is an astoundingly long and meticulous process.

Becky, the laboratory technician, guides me in the use of a device called a centrifuge to remove from my blood its red blood cells and undissolved proteins (the molecules the do the work of cells). We add many chemicals using a hand-held gadget called a pipette to suck up less than an eighth of a teaspoon of fluid, shaking the tube with the help of a vibrating Vortex machine to create a homogenous mixture. After many steps in what seems like an uber-recipe for chocolate souffle, I end up with a tiny opaque corkscrew, the width of a fingernail. My DNA! I cannot believe that something so tiny, the consistency of something I would blow into a tissue, holds all the information that makes me who I am and the potential for whom I will become.DSCF5587

-DNA mutations can be horrific

Becky and I tested my amino acid levels, which can be thought of as the building blocks of proteins. If I had had an amino acid called L-alloisoleucine in my plasma, I would have been diagnosed with Maple Syrup Urine Disease, a horrific condition that plagues roughly 1/400 Old Order Mennonites as well as children throughout the world. The name comes from the sweet odor of the urine and ear wax. If untreated, the disease can cause seizures, coma, and death. With time and tremendous effort, the Clinic came up with a nutritional supplement that can work around the altered amino acid. The team now tests its infant patients for the disease so treatment can begin before the child is 24 hours old.

-There’s so much “stuff” you can do to DNA

Adam, the Clinic’s Administrative Director and Laboratory Scientist made many, many copies of my DNA in a machine that performs the so-called Polymerase Chain Reaction. It is something like a molecular Xerox machine that reproduces me-in-a-test-tube, over and over. I am cloning myself by amplifying my DNA. How cool!

-DNA codes for not only diseases, but also features

Adam and I “melted” apart the two strands of my DNA, tracking the temperature at which the melting occurred. That gives a clue as to whether or not a mutation exists. We tested my DNA for a mutation that causes Maple Syrup Urine Disease. Thankfully, I was negative for this mutation. I am however, a carrier for blue eyes (so my future children may be blue-eyed).

-I can eat cheese without fear

Adam and I analyzed a short section of DNA that resides in my mitochondria (Yep DNA is present there as well and in the nucleus of cells). I remember from my science classes at Brookline High that mitochondria are the hot dog-shaped structures that act as batteries for cells. From that test, I discovered that I am lactose tolerant, unlike most of the world. That means that my plans to study abroad in France will fill with great joy, as I scarf down plenty of chèvre on my baguette!

Why does the clinic need its laboratory, even more than I need my cheese? Because to the kids who come to the clinic wanting answers for their problems, DNA analysis can provide many. I learn that most clinical labs -the ones where you get pregnancy or cholesterol tests – do not do routine genetic or amino acid testing. Yet, when uncovering genetic illness, knowing the DNA-make-up is everything. The clinic charges money for these tests, but it is the bare minimum of the cost of the test itself. Thus, the Clinic works hard to get the extra money to cover the time and work of Becky, Adam, and others in the lab. That’s where the annual auction and donations come in. The Clinic staff helped me understand. Hopefully, my experience will help you.

I now know that I don’t have Maple Syrup Urine Disease, am a carrier for blue eyes, and am lactose tolerant. I am a couple steps closer to discovering who I am. Who will I be? Someone who makes it part of her life to champion causes like the powerful work of this tiny lab.

10 Years of Live Transplants with Children’s Hospital of Pittsburgh

Over 80 liver transplants and counting for CSC patients and the talented team at the Children’s Hospital of Pittsburgh led by Dr. George Mazariegos!

2014 marks the Clinic’s 25th Anniversary, but it also marks 10 years of hope for patients with Maple Syrup Urine Disease and Crigler-Najjar Syndrome. Like many great scientific discoveries, this story begins by chance. An early MSUD patient needed a new liver as a result of vitamin A toxicity. Our doctors hypothesized that a new liver could also help correct MSUD’s unique metabolic problem, but this was only an educated guess. Not only did the liver transplant save this patient’s life, the transplant effectively cured her MSUD. Overnight, she was freed from daily medical formula, a low protein diet, and frequent blood tests.

Another surprising twist to the story is that many MSUD patients are able to donate their liver to the much needed pool in what is known as a “Domino Transplant.”

In essence, our MSUD patients are given a new lease on life while also saving another in the process.

We continue to search for new ways to use liver transplants as a therapeutic tool for our community’s children. The next 10 years of collaboration hold great promise for patient care and scientific discovery. Many thanks to the Children’s Hospital of Pittsburgh and to the many families who came to celebrate this week!

From Lancaster County to Georgetown University

Editors Note: Elizabeth was accepted into Georgetown University, and starts her freshman year this fall. She chose to write her college essay on her experience at the Clinic, and we wanted to share this with you as part of her wonderful Rumspringa blog. Congratulations, Elizabeth! 


As I hold the test tube to the light, I see it: a tiny opaque ribbon, the size of a fingernail. Just an hour ago, this had been my blood. After pipetting chemical after chemical, pouring, mixing, shaking, and filtering, I now had my “little ribbon,” my DNA, which holds all the information of who I am and the potential for who I will be. At this moment, the spiral of my life is in my hands. And I know I am unique.

I came here to the backcountry of Strasburg, Pennsylvania to understand this individuality, not in a chemical sense, but rather in a communal one. Here lies the Clinic for Special Children, a pediatric practice serving the Amish and Mennonites. Erected, literally, in the middle of a cornfield, the Clinic is unique in using high-tech tools to discover the roots of genetic illnesses in patients who drive horses and buggies. I journeyed to the Clinic to get a taste of how special these children really are, whereupon I put myself in their shoes, testing my own DNA for the same genetic illnesses that they might have.

In the beginning, this opportunity seemed like a long shot. The Clinic has an internship program, however, it is limited to undergraduates and medical students. As a rising twelfth grader, I loved science and children. I wanted to experience what it is like to help in a medical setting. Thus, I created a plan to launch a social media campaign and drafted a proposal to raise awareness and money for the Clinic’s mission. I would shadow the doctors, work in the lab, meet the families, and soak up anything I could. With that information, I would create a blog, Facebook messages, and Instagram posts. The Clinic staff was intrigued. And there I was in the lab, testing my DNA.

From my “little ribbon,” I learned that I carry the genes for blue eyes, lactose tolerance, and a common mitochondrial mutation. I also discovered that I do not have a severe genetic condition called maple syrup urine disease, thank goodness. In the Clinic, I came to know the importance of cultural understanding and bedside manner, as pediatrician Dr. Kevin Strauss sleuthed and explained serious ailments to white-bonneted and suspender-clad patients. I also ventured out into the community. I ate pizza in the homes of three Amish families, rode in a pony cart along with Amish children, drank milk straight from a cow’s udder, and helped can peaches. DSCF6903

These moments wove together to teach me the values of community and culture in relation to individuality. I come from the “Brookline, Massachusetts bubble,” where high school is a vehicle to jam-pack a resume by volunteering at soup kitchens, tutoring underprivileged children, or organizing bake sales to help African children buy goats. All of this check-marking has become so routine as to be commonplace. I wanted to break that mold.

I arrived hoping that the Clinic could help me step outside the bounds of my environment, which insists on excellence at any cost. The community welcomed me and made me feel more than excellent. I felt special. Now I know that whatever I do with my life, I will carry this feeling with me and, most importantly, create the means to offer it to others. I can say now that I want to foster a career in which I apply scientific knowledge and share it with others, while working with different cultures. Maybe I will incorporate art therapy into a clinical practice, serving minorities, or teach science to foreign students. I cannot predict the particulars, but I do know this: to be unique in Brookline language is to stand out, but to be special in Clinic terms is to join in, becoming one with something much larger – a community that values me for who I am and fits so tight that we achieve excellence together.

Three Top Female Scientists from Franklin & Marshall College

Franklin & Marshall College is one of the Clinic’s closest friends and collaborative institutions. Since 2006, Drs. Puffenberger, Strauss, and Morton have co-taught a capstone course in biology at the college called, “Plain People & Modern Medicine.” The Clinic is also integrally involved in F&M’s second Howard Hughes Medical Institute grant (HHMI), which helps to fund key research projects leading to faster diagnosis and better treatments for our patients.

We believe our shared investment in education and research is crucial for future clinician-scientists, and we have three top female scientists to prove it.


Rebecca Willert (Becky) joined the Clinic’s team in 2012 as our Laboratory Technician after graduating from F&M with a bachelor’s of arts in biology. Becky was one of many talented students who worked in Professor Rob Jinks‘ lab and also took the Clinic’s biology course during her senior year. Because of Becky’s work in the Jinks lab, she is now a published author on our 2012 PLoS One publication. We will greatly miss Becky’s keen skill in the laboratory, but we are glad she is continuing her education at Drexel University’s Physician Assistant Program!

Abigail Benkert (Abby) was our 2013-2014 Avery Fellow. She too took our “Plain People & Modern Medicine” course, and she graduated from F&M in 2013 with a bachelor’s of arts in neuroscience. Like Becky, Abby also developed her scientific rigor by working in the Jinks lab at F&M. Over the last year, Abby has led independent research on a disease called Congenital Adrenal Hyperplasia (CAH). Her work is helping to define new treatment protocols for this disease that will improve the care for many CSC patients. We are also fortunate that Abby has decided to stay at the Clinic as our laboratory technician for one more year prior to medical school.

Nancy Presnick (pictured right) is the latest example of a top female scientist from Franklin & Marshall. DSCF3400Graduating just two months ago with a bachelor’s of arts in neuroscience, Nancy is spending ten weeks at the Clinic. She is the recipient of the Eyler Award for biochemistry, biology, and chemistry from F&M, which has funded her summer research at CSC. She is helping to develop a new test for ACTH, an important hormone in the management of Congenital Adrenal Hyperplasia. Nancy is also helping Dr. Puffenberger with clinical diagnostic testing and genetic sequencing. Not surprising, Nancy is another Jinks lab graduate, and she also took our course during her senior year.

A winning combination – The Jinks Lab, the Clinic’s capstone course, and independent research that helps to improve the lives of children.


We are grateful for our continued partnership with Franklin & Marshall College, and we thank Becky, Abby, and Nancy for their inspiring dedication to our mission! These bright, young minds represent a new generation of clinician-scientists that will propel our work forward for years to come.


The Summer Newsletter is Here

Hot off the presses, it’s our summer newsletter! If you didn’t receive a copy via snail mail, you can download the PDF here. We have included 25th Anniversary highlights, personal stories from our research fellows, a welcome to our new pediatrician, and many other great updates on research and collaborative efforts. The newsletter has kept our friends up to date since the beginning, and we hope you enjoy the latest edition!

Download the PDF here → Summer Newsletter

A New Voice in the Front Office

We are pleased to introduce Yalonda Kosek as the Clinic’s new Medical Receptionist. Yalonda started this April and brings over 5 years of experience to the Clinic’s front office. You will hear her friendly voice whenever you call the Clinic, and she’ll be happy to help with scheduling a visit or connecting you to the rest of the CSC team. Yalonda is also a big help to Erica with day to day clinical operations!

For almost 4 years, Adam Heaps has been a key asset to the Clinic’s laboratory. Adam started as our laboratory technician and was quickly promoted to laboratory scientist as he helped to coordinate much of the day to day clinical and research testing. We are now pleased to share that Adam has taken on even more responsibility as the Clinic’s Administrative Director. Our longtime Executive Director, Caroline Morton, is transitioning her administrative duties to Adam’s capable hands, but Caroline will continue at the Clinic as our co-founder and head writer for the Clinic’s newsletter.

In our 25th anniversary year, we also celebrate a growing, talented, and dedicated team!


We’re Hiring!

Calling all Genetic Counselors & Laboratory Technicians!

Please see the details below, and send a cover letter and resume to Adam Heaps: aheaps@clinicforspecialchildren.org.


Position: Part-time Genetic Counselor / Project Coordinator.

The position is part-time (3 days a week), Monday – Friday, 9:00 AM to 5:00 PM.

The Clinic for Special Children is a non-profit medical and laboratory service for children with complex genetic disorders, primarily in the Mennonite and Amish communities.  The Clinic serves children and families by translating advances in genetics into timely diagnoses and accessible, comprehensive medical care, and by developing better understanding of heritable diseases.  More information about the Clinic’s mission, services and research can be found at www.clinicforspecialchildren.org.

The Clinic is looking for a highly motivated individual to join our team as a “Genetic Counselor / Project Coordinator.”  The individual would work closely with medical and laboratory staff to coordinate all aspects of a collaborative exome sequencing project.  The position will be available for 3 years pending funding.  Responsibilities will include: constructing family pedigrees from various sources, determining possible inheritance patterns, tracking project outcomes, tracking patient progress through the study, determining genetic risk for individuals and families, educating families about genetic testing technologies and genetic disease risk, ensure patients are properly consented and follow IRB and study guidelines.

An applicant must have:

  • M.S. in genetic counseling
  • Board certification by the American Board of Genetic Counseling (ABGC)
  • Excellent clinical skills and the ability to explain complicated medical/genetic concepts in a simple way
  • Experience with exome sequencing data, incidental findings and standard genetic reporting guidelines
  • Experience and knowledge of various genetic technologies
  • Excellent organizational, multi-tasking and teamwork skills


Position: Full-time Laboratory Technician

The position is full-time, Monday – Friday, 9:00 AM to 5:00 PM.

The Clinic for Special Children is a non-profit medical and laboratory service for children with complex genetic disorders, primarily in the Mennonite and Amish communities. The Clinic serves children and families by translating advances in genetics into timely diagnoses and accessible, comprehensive medical care, and by developing better understanding of heritable diseases. More information about the Clinic’s mission, services and research can be found at www.clinicforspecialchildren.org.

The Clinic is looking for a highly motivated individual to join our team as a “Laboratory Technician.” The position will be available for 3 years pending funding. The individual would be responsible for completing various molecular assays in a timely fashion using established protocols. Responsibilities will include: Sanger sequencing, running microarrays, primer design, genotyping by high-resolution melting curve analysis, and DNA isolation from whole blood.

 An applicant must have:

  • B.S./B.A. in biology, chemistry, biochemistry or a related field
  • Strong knowledge and interest in the genetic causes of human disease
  • Experience with molecular techniques and assays
  • Experience working in a laboratory setting
  • Excellent organizational, multi-tasking, record keeping and teamwork skills
  • The ability to communicate clearly with medical/scientific professionals and families

 An applicant would ideally have:

  •  Experience working in a CLIA certified laboratory
  • Experience with Affymetrix CytoScan arrays

Please Welcome our 2015 Avery Fellow, Aarti Rao!

We’re happy to announce our 3rd Avery Fellow, Aarti Rao! Aarti comes to the Clinic from Swarthmore College with a Bachelor’s of Arts in Honors Sociology, Anthropology, and Biology. We were impressed by Aarti’s public health research within fifteen villages of Chura, Rajastan, a desert region in northern India. Aarti assessed the utilization of maternal and newborn health services, then developed and distributed “Emergency Birth Plans” for women in villages with high rates of infant mortality. Expanding on her work in public health, Aarti will help CSC to develop new measures of efficacy and educational tools for the children and families we serve.

The Avery Fellowship program is a vital component to the Clinic’s mission. By integrating talented students into our team for a yearlong program, we are sharing 25 years of advancements with the clinician-scientists of the future. In turn, talented students like Aarti are helping the Clinic to maintain a culture of innovation and growth. To learn more about the program, visit our research page: https://clinicforspecialchildren.org/research.

We are grateful for the many individuals and private foundations who have supported the Avery Fellowship. If you are interested in learning how you can support this program, please contact Matthew Sware at 717.687.9407.

The Clinic’s Celebration Garden Grows!

DSCF9258It is often said that the Plain people of Lancaster County have something very important to teach us about community. We are fortunate at the Clinic for Special Children to be reminded of this each time a family comes to our office seeking care for a special child. It starts with our building, which was raised like a barn by donated materials and labor. We admire the families, neighbors, churches, and businesses that nurture young, vulnerable lives with the extraordinary support that takes form at our annual benefit auctions. Now in our 25th year, we recognize more than ever how the spirit of community can turn a great idea into reality, for children in Lancaster County and throughout the world. To paraphrase our co-founder, we are “…better scientists, better physicians, and more thoughtful people” because of what we learn from the communities we serve.

Our community of supporters grew this year as we embarked on a project to celebrate the Clinic’s 25th Anniversary. Many private donations and countless volunteer hours have made a beautiful garden come to life. We would like to publicly thank the local businesses that selflessly stepped forward. With no promise of headline news or advertising, these partners donated over $50,000 of design, labor, equipment, and materials for our garden:

Jim’s Landscaping – Design, site preparation, flagstone path, and plant material

L&L Restoration Stone Masonry – Masonry/Hardscaping

Huber’s Nursery – over 50 shrubs and perennials

Jordan Electric – outdoor lighting installation

Tomlinson Bomberger – design and installation of over 20 shrubs and perennials as well as a new Japanese maple tree

American Period Lighting – handmade brass light fixture and post

Garden Spot Village Retirement Community – mulch delivery, equipment, and volunteer leading

Miko Lawn & Landscaping – pruning, waste removal, and volunteer leading

Earth, Turf, and Blooms – volunteer leading

Tuscarora Hardwoods – 15 cubic yards of mulch

Isaac’s Famous Grilled Sandwiches – food for planting day

Subway of Greenfield – food for planting day

DSCF9267In truth, it is not just the Plain people who embody the spirit of community; this spirit is engrained within all of Lancaster County. On the Clinic for Special Children’s 25thAnniversary, we thank our friends, new and old, who have stepped forward to support our mission. In the words of Margaret Mead, “Never doubt that a small group of thoughtful, committed citizens can change the world; indeed, it’s the only thing that ever has.

A very special thank you to Bob Goodhart, who helped us conceptualize the garden and make our planting day a great success for our volunteer families and staff.

You can read more about our planting day from the Lancaster Newspaper’s Sunday edition: http://lancasteronline.com/news/local/at-the-clinic-for-special-children-a-garden-and-hope/article_7c35d6dc-cdab-11e3-875d-001a4bcf6878.html.






CSC Participates in the 2014 Designathon with PCAD

The Clinic is participating in the 2014 Designathon with the Pennsylvania College of Art & Design! For 24 hours starting this Friday, February 21st, students will work through the night to help the Clinic with several graphic and web design projects. We’re grateful for the opportunity to work with PCAD and look forward to sharing their work with our friends around the world! Read more about the Designathon here:


An English Girl’s Rumspringa – New Blog at CSC

Last summer, we were delighted to host Elizabeth Gura Gavin at the Clinic. A rising senior in high school, Elizabeth set out to write a personal account of the Clinic that would capture our work and mission for a younger readership. We’re excited to share her blog with you, and we think readers of all ages will enjoy her thoughtful reflections.

We’ll post a new entry each week and send updates to our Facebook Page. Please enjoy “An English Girl’s Rumspringa,” and pass it along to your friends and family!


Thank you for your hard work, Elizabeth!

An Exciting Addition to our Team!

We’re eager to announce that Dr. Katie B. Williams has joined the clinical team at CSC as our third pediatrician! Dr. Williams finished her medical degree and PhD in nutrition at the University of Wisconsin-Madison and has moved to Strasburg with her husband and two small boys.

Be sure to welcome Dr. Williams on your next visit to the Clinic!

Pictured (left to right): D. Holmes Morton, MD, Katie B. Williams, MD, PhD, and Kevin A. Strauss, MD

CSC Welcomes two Research Fellows for 2013-2014

We’re very happy to welcome Abby Benkert and Joshua Wesalo to the CSC team, both 2013 graduates of Franklin & Marshall College. Abby and Josh are exceptional young scientists and will spend one year working on independent research.

Abby Benkert is the 2013-2014 Avery Fellow. She honed her talents working  in the lab of Dr. Robert N. Jinks, Associate Professor of Biology at Franklin & Marshall College,  where she performed functional protein studies of numerous CSC disorders.  As the 2nd Avery Fellow, Abby will focus on the effective treatment of congenital adrenal hyperplasia (CAH) by managing various clinical trials and developing laboratory assays for the monitoring of key compounds.

Joshua Wesalo is no stranger to the necessary rigor of independent research. Since his sophomore year at F&M, Josh has worked on the synthesis and purification of the ganglioside GM3 in the lab of Dr. Kenneth Hess, Professor of Chemistry. During his research fellowship, Josh will continue his work on the synthesis of GM3 with the ultimate goal of using this compound to treat GM3 synthase deficiency, a neurologically devastating disorder.

We are committed to training the clinician-scientists of the future and could not be more delighted to have Abby and Josh join our team!

Pictured (L-R): Joshua Wesalo, Kenneth Hess, Abby Benkert, and Robert Jinks

Please Welcome Millie Young to our Clinical Staff!

We’re excited to announce Millie Young, RN as the newest addition to our talented clinical staff! Millie joins CSC after many years on Lancaster General Hospital’s pediatric floor, and she is very familiar with the communities we serve. Not only is Millie a talented nurse, she brings a depth of knowledge and experience to our staff and a deep appreciation for the Clinic’s mission.

Be sure to welcome Millie on your next visit to the Clinic!

Pictured (left to right): Christine Hendrickson, RNC, Millie Young, RN, and Donna Robinson, CRNP

We’re featured on WNYC, FM New York!

Two months ago, Dr. Strauss and Rebecca Smoker were interviewed by WNYC radio, one of the largest NPR affiliates in the country. We’re grateful to their team of reporters from “New Tech City” for  exceptional coverage of our work! During a time of great strife over healthcare, we are very glad to present a story firmly rooted in community, outcomes, and prevention. Listen to the podcast and watch the video below!



Thank You for an Amazing Auction Season!

Five auctions, spread throughout Pennsylvania and Ohio, each one exceeding our expectations! We cannot thank the Plain Communities enough for their generous support and to all our friends who traveled great distances to celebrate the Clinic’s mission. The auctions represent one third of the Clinic’s operating budget, a crucial component to our success, but it is the opportunity to share a unified passion and dedication for the Clinic that means the most to our staff, families, friends, and communities.

Thank you to all who have contributed to this extraordinary outpouring of support!

Kevin Signature            Holmes signature

                  Dr. Strauss                           Dr. Morton


Pictured from Left to Right: Adam Heaps, Rebecca Willert, Erica Eisenbise, Harper Sheldon, Dr. Strauss, and Dr. Morton.

Genomics Conference Highlights

Genomic Medicine and the Plain Populations of North America

Lancaster, Pa. – July 17 – 18, 2013- In collaboration with Franklin & Marshall College and the Howard Hughes Medical Institute, the Clinic for Special Children hosted a two-day conference on Genomic Medicine and the Plain Populations of North America. In its 24 year history, the CSC has proven that preventative, genomic medicine decisively improves outcomes while saving  local Amish and Mennonite communities millions of dollars in medical costs (Strauss, et al. AJPH, 2012). There are now clinics in Ohio, Indiana, and Wisconsin, and Canada, all working to expand the CSC’s model to other communities in need of specialized, preventative, genomic medicine. The conference was intended to bring together representatives from all clinics as well as local medical professionals and friends. The conference also served as an opportunity for continued medical education credits (CME).Group Photo

“This conference was an important opportunity for all of the Clinic’s collaborators and friends to share knowledge, insights, and methods, with the overall goal of improving our ability to provide better care for the children and families we serve,” says Dr. Kevin Strauss, Medical Director at the Clinic for Special Children.


THANK YOU to all of our participants and presenters. We especially thank the staff and faculty of Franklin & Marshall College, particularly Karlla Brigatti, for their work in coordinating this great event!

Lecture Materials by Presenter

D. Holmes Morton, MD
Clinic Director, Clinic for Special Children
Approach to Care for Patients with Metabolic Disorders
Cardiomyopathy in Patients with the Amish & Mennonite Variant of Propionic Acidemia

Erik Puffenberger, PhD
Laboratory Director, Clinic for Special Children
Building a Core Laboratory Service

Kevin Strauss, MD
Medical Director, Clinic for Special Children
Genes and Development
One Community’s Effort to Control Genetic Disease

Adam Heaps
Laboratory Scientist, Clinic for Special Children
The Challenges and Opportunities of Collaboration

Edwin Naylor, PhD, MPH
Medical University of South Carolina & Parabase Genomics, Inc.
Newborn Screening: Yesterday, Today, and Tomorrow

Olivia Wenger, MD
New Leaf Clinic
A Little Mennonite Girl’s Guide to Starting a Clinic for Special Children

Robert O’Reilly, MD
Division Chief, Pediatric Otolaryngology, Nemours AI DuPont Hospital for Children
Patient Centered Research: The Audiology Experience

Aravinda Chakravarti, PhD
Professor of Molecular Biology and Genetics, Johns Hopkins University
Next Generation Sequencing using Exome Sequencing

Chris Roberson, JD, MPH
Director of Compliance and Community Programs
Identifying Needs, Implementing Services in the Indiana Plain Community

Elizabeth Rice, PhD, Carey Sentman, Mandi Tembo
Franklin & Marshall College
Congenital Adrenal Hyperplasia – A Parents’ Handbook

Zach Adams, Emily Dlugi, Varun Rajagopalan
Franklin & Marshall College
Public Health Genomics and Translational Research

A. Micheil Innes, MD FRCPC FCCMG
Associate Professor, Medical Genetics – University of Calgary
Clinical Genetics and the Hutterite Brethren: What Have We Learned in the New Millenium?

Donald B. Kraybill
Elizabethtown College – Senior FellowYoung Center for Anabaptist & Pietist Studies
North American Anabapists Demographic Overview

Christine M. Seroogy, MD
Associate Professor, Immunology/Immunopathology Focus Group Leader, Department of Pediatrics
University of Wisconsin Madison
Initiative in Wisconsin: Update

Heng Wang, MD
DDC Clinic Center for Special Needs Children – Middlefield, Ohio
The Story of the DDC

Joshua Wesalo
Franklin & Marshall College
Highlight: GM3 Synthase Deficiency

Alan R. Shuldiner, MD
Director, Program in Personalized and Genomic Medicine – University of Maryland
Amish Research Clinic
Overview of the Amish Research Clinic

Robert N. Jinks, PhD
Associate Professor of Biology, Franklin & Marshall College
Bridging the Gap Between Research and Education Using Rare Disease Research

Victoria Siu, MD
University of Western Ontario
Newborn and Carrier Screening in Southwestern Ontario FORGE Canada – A History of Collaboration




Liver Transplant Day with CHP!

Drs. Mazariegos, Soltys, and Venkat from Children’s Hospital of Pittsburgh spent the day at CSC, providing check-ups for many MSUD and Crigler-Najjar liver transplant patients. What a great day of fellowship for our patients, staff, and collaborators!

Special thanks to Dr. George Mazariegos and his team for the wonderful care our patients receive. The Clinic co-developed the transplant protocol with Dr. Mazariegos to effectively cure the metabolic imbalance caused by the disease. With a new liver, MSUD and Crigler-Najjar patients are given the chance to live and eat normally. Read about Crystal Martin’s milestone 50th transplant in Pittsburgh Magazine:


Best of all, we could celebrate Dr. Mazariegos’ 50th birthday!


One community’s effort to control genetic disease

A field action report published by the Clinic in the American Journal of Public Health (AJPH)

Drs. Strauss, Puffenberger, and Morton were recently published in the American Journal of Public Health, outlining the Clinic’s unique model of care and the financial outcomes for the communities we serve. Dr. Strauss surmises, “Systems of medical care that allow clinicians and molecular biologists to work side-by-side at the appropriate scale, concerned foremost with the care of patients, are a means to ensure that affordable gene-based methods become a sustainable force in medical practice. Critics who argue that social and cultural factors dictate what represents ‘appropriate technology’ in any particular setting should remember that persons born with serious genetic lesions are victims of chance and should have preferential claim to the practical benefits of scientific progress.”

Visit the AJPH website or download the report.

From bedside to bench and back again

In collaboration with Dr. Peter Crino of the University of Pennsylvania and graduate students like Whitney Parker, the Clinic continues to make progress on devastating diseases like Pretzel Syndrome. Below, Whitney highlights her unique research experience, a great example of moving from the clinical bedside to the laboratory bench. We all hope that these collaborative efforts lead back again to the bedside with life-saving treatments.

From Whitney Parker, graduate student at the University of Pennsylvania: Last fall, a few of my colleagues and I joined the families and staff members of the Clinic for Special Children for the Pretzel Syndrome picnic. Dorothy Brubaker and her family welcomed us to their home, where we were immediately greeted with warm welcomes and all the delicious food we could manage to eat (and then several desserts after that)! Sitting with families at the picnic, I recognized that not only was everyone there an expert in the experience of and treatments for Pretzel Syndrome, but also they had an overwhelming sense of community and desire to help their children and others. I was amazed that families from Wisconsin and New York had traveled to Lancaster County to join us for this event as well! After lunch, Dr. Strauss talked to everybody about the outcomes of treating Pretzel Syndrome patients with rapamycin. I described our lab work using rapamycin and a similar new drug (an inhibitor of p70S6kinase, the enzyme directly following mTOR in the disease pathway) to restore movement to abnormally arrested cells in the developing brain in a mouse model of Pretzel Syndrome. Afterward, we asked if any of the Pretzel Syndrome patients or their parents would be willing to donate skin samples in order for us to be able to test the efficacy of the drugs on the movement of human cells. The response was overwhelming! In addition to Dr. Strauss himself, two parents and three Pretzel Syndrome patients volunteered to let us take a biopsy of their skin! Afterward, we all got to ride in a pony cart driven through a recently-flooded stream by the talented Melissa.

When we got back to the lab, we spent the next few days extracting cells called fibroblasts from the skin samples. These are the cells that normally form scars in wound healing, and they can serve as a good experimental model of cell movement. We tested the movement of fibroblasts from Pretzel Syndrome patients compared with movement of those from the parents and Dr. Strauss. Pretzel Syndrome fibroblasts showed decreased movement, compared with the other cells. Our belief is that impaired movement of cells in the developing brain is what contributes in a large part to seizures in Pretzel Syndrome patients. Interestingly, when we treated Pretzel Syndrome fibroblasts with rapamycin or the new drug, movement was restored! We think this is important because it suggests that these drugs can be effective for not only mouse cells but human cells as well, and may be effective in helping to restore normal brain development in patients with Pretzel Syndrome if started early enough. We are also experimenting with different nutrient changes that can affect disease manifestation, with the hope of being able to recommend dietary changes as a supplementary treatment. With the help of a colleague at the University of Michigan, we are in the process of turning some of the Pretzel Syndrome fibroblasts into brain cells, so we can study the process that causes seizures in Pretzel Syndrome and ways to treat this. Overall, the contributions of everybody who donated skin samples have been immensely helpful so far in letting us test different treatment options in human cells.

The experience of meeting families with children affected by Pretzel Syndrome as well as the patients themselves has completely changed my perception of the disease and the work I do in lab. Their sense of community and wanting to do anything to help those who suffer from the disease was incredibly inspiring! After visiting with the Mennonite and Amish families, I no longer think of Pretzel Syndrome as an interesting process to study in the lab purely for the sake of scientific knowledge, but instead as a huge burden to the patients and their loved ones suffering though it. I hope that through learning more about the disease process, we can begin to figure out ways to treat it and help improve the lives of Pretzel Syndrome patients and their families who inspire

Pictured: Induced pluripotent stem cells derived from the skin biopsies volunteered from CSC patients at a Pretzel Syndrome Family picnic in the summer of 2011. Dr. Crino and his team will transform these stem cells into neuronal cells that express the Mennonite STRADA mutation, and can then be used to test the effect of various medications on disease expression in brain cells. Image used with permission by Dr. Crino.

2012 Summer Students at CSC

As part of our ongoing effort to train future scientists and clinicians, the Clinic is hosting a full house of summer students!

From Dr. Puffenberger: “We are grateful to have so many talented, young minds at the Clinic this summer, and we all feel that the investment in such talent is vital to our mission and success.”

Maggie Steinmann—University of California, Davis, Biology
Maggie is studying Congenital Adrenal Hyperplasia (CAH), a condition found in the Amish community as well as the general population.

Alison Greidinger—2012 Eyler Fellow, Franklin & Marshall College, Biology
Alison is working with Dr. Morton on Proprionic Acidemia research, a particularly complicated condition that the Clinic has studied for several years.

Kiri Sunde—2012 Mary Ellen Avery Fellow
Kiri is spending a full year at the Clinic as our very first Avery Fellow, working to complete a handbook for GA1 parents and also new methods of molecular screening.

Orla Houlihan—Children’s Hospital of Philadelphia, trainee
Orla discovered the Clinic during a pulmonary rotation at CHOP and decided to extend her stay in the United States for two additional weeks in order to shadow our doctors. Orla is an Irish physician in training with a particular interest in pediatric genetics.

Becky Willert—2012 Franklin & Marshall graduate in Biology
Becky is spending a full year at the clinic on a novel method of newborn screening for Muscular Dystrophy.

Theresa Swenson, PhD—Elizabethtown High School Teacher
Though not a traditional student, Theresa volunteers her time and expertise to help develop a diagnostic method for GM3 concentrations, a crucial measurement for the fight against GM3 deficiency.