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Groundbreaking geneticist, Hempfield grad to kick off annual Greensburg Turkey Trot

A longtime runner and Hempfield Area graduate whose work on a rare genetic disorder has helped a young girl begin to walk will be returning home on Thanksgiving Day to officially start the Greensburg Turkey Trot race co-founded by his father. Dr. Caleb Bupp, 41, a medical geneticist living in
Michigan State University United States Grand Rapids Mark Sorice Caleb Bupp Andre Bachmann

Marley's marvelous success | MSUToday | Michigan State University

Marley’s marvelous success New rare genetic syndrome goes from a collection of symptoms to successful treatment in less than two years Diagnosing a rare medical condition is difficult.  Identifying a treatment for it can take years of trial and error. In a serendipitous intersection of research expertise, an ill patient — in this case a child — and innovative technology, Bachmann-Bupp Syndrome has gone from a list of symptoms to a successful treatment in just 16 months.   The paper ch...
North Carolina United States Helen Devos Marley Berthoud Andre Bachmann Caleb Bupp
Source: msu.edu

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Mattawan girl leading way with treatment after being first diagnosis for rare genetic disorder

Mattawan girl leading way with treatment after being first diagnosis for rare genetic disorder A West Michigan girl is the first to ever be diagnosed with Bachmann-Bupp syndrome, a rare genetic mutation. and last updated 2021-07-16 22:43:45-04 MATTAWAN, Mich. — Six-year-old Marley Berthoud is on the move. “It’s just been this continuum of advancements,” said Kelly Berthoud, Marley’s mom. “We’re seeing a lot of progression with her movements.” Marley’...
United States Marley Berthoud Andre Bachmann Kelly Berthoud Caleb Bupp Michigan State University College Of Human Medicine

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