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

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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.