News

Researchers Find Multisystem Disorder Caused by CCDC47 Variants

STRASBURG, PA & TOPEKA, IN- Researchers and clinicians through a multicenter collaboration have identified a novel multisystem disorder caused by bi-allelic variants in the CCDC47 gene. Their findings are reported in The American Journal of Human Genetics. CCDC47 is responsible for encoding an essential calcium (Ca2+)-binding protein involved in embryogenesis and development. Calcium signaling is […]

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Over $62,000 Raised Through 2018 ExtraOrdinary Give!

On Friday, November 16, 2018 over 210 Extraordinary people made a donation to the Clinic for Special Children with over $62,000 raised in just 24 hours! The community shattered our goal of $45,000 for this year’s ExtraGive! In 2017, $40,000 was raised through the ExtraGive for the Clinic. The ExtraOrdinary Give is Lancaster County’s largest […]

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Researchers Find Novel Mutation Affecting YARS Causes Multisystem Disease

STRASBURG, PA- Researchers have identified a novel missense mutation in tyrosyl-tRNA synthetase (YARS c.499C>A, p.Pro167Thr) that causes a severe recessive disorder in affected individuals. The study, led by clinicians, researchers and collaborators of the Clinic for Special Children in Strasburg, PA, appears in Human Molecular Genetics. The report includes detailed clinical characterization of seven related […]

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Enjoy CSC’s Fall Newsletter!

In this edition of the CSC newsletter, read about the Watson family’s journey with GA-1, our partnership with the Strasburg Rail Road, new CSC staff members, recent research study updates, a recap of the 2018 auctions, new SMA carrier testing, the upcoming Extraordinary Give, Lancaster General Health Family Medicine residents at CSC & more! Read […]

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THANK YOU for making our first Clinic for Special Children 5k a SUCCESS!

THANK YOU to everyone who came out on Saturday, September 22nd and made our first Clinic for Special Children 5k such a success! Because of you and over 280 registrants, a total of $24,000 was raised to benefit the Clinic! The race results are posted on the Pretzel City Sports website here. To view more photos, please […]

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Researchers Correlate Spinal Muscular Atrophy Disease Expression with Haplotypes

STRASBURG, PA- A natural history study has provided the first comprehensive clinical description of spinal muscular atrophy (SMA) within the Amish and Mennonite communities and correlates ancestral chromosome 5 haplotypes and SMN2 copy number with disease severity. SMA is a devastating genetic disease that affects the motor neurons that control movement, eating, and breathing. It […]

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New Nusinersen Drug Delivery Method Identified for Spinal Muscular Atrophy Patients

STRASBURG, PA- A new report has identified an alternative method to deliver nusinersen to patients with spinal muscular atrophy (SMA) using a subcutaneous intrathecal catheter system (SIC) configured by connecting an intrathecal catheter to an implantable infusion port. SMA is a devastating genetic disease that leads to progressive degeneration of motor neurons that control movement, […]

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Register Now! Clinic for Special Children 5k

Please join us for our FIRST 5K Run/Jog/Walk to benefit Clinic for Special Children! $100 CASH PRIZE for overall top male & female runners! Enjoy a 5K, free refreshments, a silent auction, and crafts for kids among the many family-friendly activities planned for the day! Proceeds support the mission of Clinic for Special Children, a […]

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Enjoy CSC’s Summer 2018 Newsletter!

  In this edition of the CSC newsletter, read about the Martin family’s inspiring journey with Kleefstra Syndrome. Also in this issue is the story of Margaretha whom the Clinic met while on a medical mission to Mexico and Drs. Matt Demczko and Mike Fox returning to CSC. Additional spotlights include our upcoming events, Clinic […]

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Amish Nemaline Myopathy Natural History Study Finds Promise for Gene Therapy Treatment

STRASBURG, PA- A new comprehensive natural history study about Amish nemaline myopathy (ANM) in the Old Order Amish population focuses on the promise of gene therapy for this lethal disorder. Amish nemaline myopathy (ANM) is an infantile-onset muscle disease linked to a mutation of the TNNT1 gene. The study summarizes genealogical records, clinical data, and […]

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