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Month: February 2019
Plain Insight Panel featured on Lancaster Newspapers/LancasterOnline
The Clinic for Special Children’s new Next Generation Sequencing technology was featured in an article on Lancaster Newspapers/LancasterOnline.
Since 1989, the Clinic for Special Children in Strasburg has been identifying and treating rare genetic diseases among Plain sect people, including the Amish and Old Order Mennonites. Now, leaders of the nonprofit say, a new DNA testing method called next-generation sequencing lets them check at one time whether a person is a carrier for many of those diseases. “We’ve been talking about this for a long time, and the technology just wasn’t quite there,” said clinic executive director Adam Heaps. “We really feel like this is an opportunity to anticipate the disorders that we’re going to see and where we’re going to see them.”
Click HERE to read the entire article.
Researchers Publish Largest Description of ST3GAL5 (GM3 Synthase) Deficiency
STRASBURG, PA- Researchers have combined the largest description of ST3GAL5 (GM3 synthase) deficiency using detailed natural history data from 104 individuals of Amish ancestry born between 1986 and 2017 with a definite or probable diagnosis of ST3GAL5 deficiency. The study examined objective measures of biochemistry, auditory function, brain development, and caregiver burden. GM3 synthase is encoded by ST3GAL5, and is essential for synthesis of the most biologically relevant gangliosides in mammals. The study, led by clinicians, represents a collaborative effort by the Plain Community Health Consortium (PCHC). PCHC is a network of non-profit clinics across five states that diagnose and treat rare genetic disorders in children from the Anabaptist communities.
Read the full press release here