CSC researchers contribute to novel discovery of de novo and inherited variants in GBF1

STRASBURG, PA- A new study details the identification of pathogenic variants in the gene GBF1 in four unrelated families with individuals affected by Charcot-Marie-Tooth neuropathy (CMT2) or hereditary motor neuropathies (HMNs). The study includes a long-term patient of the Clinic for Special Children (CSC) and details an example of gene discovery work at CSC. The project was a broad, international collaborative effort with contributions from clinicians and researchers at CSC and appears in The American Journal of Human Genetics in September 2020.

Read the full press release HERE

Read the full paper HERE

2020 Virtual 5k | Over $10,000 Raised for the Clinic!

Thank You, Results, & Photos!

Thank you to our 2020 Clinic for Special Children Virtual 5k participants for raising over $10,000! Over 130 registrants ran, jogged, biked, and walked all over the world in support of the Clinic. Your support this year allows us to continue to provide vital services to children and adults with rare genetic disorders.

View the 2020 CSC 5k RESULTS HERE


2020 Virtual 5k Race Gallery

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Thank you for participating in the 2020 CSC Virtual 5k!

 

Welcome to Dr. Grace Loudon

We are excited to officially welcome Dr. Grace Loudon to the Clinic for Special Children! Dr. Loudon, a family practice physician, will join Dr. Strauss, Dr. Carson, Dr. Poskitt, and nurse practitioner Donna Robinson in providing clinical services at the Clinic.

Dr. Loudon’s training allows her to see patients of any age making her an ideal addition to our staff. Her experience in working with adult patients will allow her to lead efforts in formalizing an adult services program at the Clinic. Dr. Loudon earned a bachelor’s degree in biology from Bryn Mawr College in 2012 and a medical degree from Sidney Kimmel Medical College at Thomas Jefferson University in 2017. She completed her family medicine residency at Penn Medicine Lancaster General Health (LGH).

Dr. Loudon is already a familiar face at the Clinic, as she has been visiting and seeing patients periodically for the past two years as part of a special program between the Clinic and LGH called the Clinical Genomics area of concentration. When the Clinic partnered with the Family Medicine Residency Program at LGH to create this genetic medicine training program, Dr. Loudon was one of the first to sign up.

Dr. Loudon will begin to see patients at the Clinic in August 2020. In her free time, Dr. Loudon enjoys spending time with her family and her two cats, visiting the beach, working on home improvement projects, biking, and running with her dog, Remi.

Register today! 2020 Clinic for Special Children Virtual 5k

2020 Clinic for Special Children Virtual 5k

Runners, joggers, and walkers are invited to participate in the 2020 Clinic for Special Children Virtual 5k! After careful consideration and due to COVID-19 public health safety guidelines, this year’s race has been moved to a virtual format. Between Saturday, September 19th and Saturday, September 26th, runners, joggers, and walkers can complete a 5k route of their choice in support of the Clinic for Special Children. Your participation in our virtual 5k race this year will help us bring in vital fundraising to support our mission during this unprecedented time.

 

 

Online Registration HERE        Paper application HERE            

 

 

 

 

 

Download a Race Bib HERE            Fundraise for the Clinic HERE

 

VIRTUALLY ANYWHERE | Make your own course! Run, jog, or walk a 3.1-mile course of your making to participate in our virtual 5k.

WHEN | Complete your 5k between Saturday, September 19th and Saturday, September 26th – you can run, jog, or walk at any time that week to participate. Registration will close on Saturday, September 26th.

VIRTUAL 5k DONATION | This year’s virtual 5k has a suggested donation of $25. Feel free to donate more or less, we’re grateful for your support this year! A note: this year’s registration will not include a t-shirt or goody bag due to the virtual nature of this race.

SUBMISSION OF TIME AND PHOTOS | Send us your time and/or photos of you participating in the #2020CSCVirtual5k! You can post your time and/or photos using the hashtag on social, email us at queries@clinicforspecialchildren.org, mail them to us (535 Bunker Hill Rd, Strasburg, PA 17579), or submit them via the online form on our website. We will be posting submitted photos and times on our website (ClinicforSpecialChildren.org) and on our social pages.

FUNDRAISING FOR CSC | Fundraise with family & friends in support of the Clinic for Special Children! Awards will be given to top fundraising individuals and teams!

You can sign up to create your own fundraising page HERE – click the orange “Start fundraising” button to create your page and start fundraising!

PRIZES | We will be giving out prizes to top fundraisers, random prizes to registered participants, and more! Details to follow.

QUESTIONS: Contact Kelly Cullen at kcullen@clinicforspecialchildren.org or 717-687-9407.

CLICK HERE to follow our Clinic for Special Children 5K Facebook event for information updates and newest event details.

Thank you to our 2020 sponsors!