Stay updated with breaking news from Caleb Bupp. Get real-time updates on events, politics, business, and more. Visit us for reliable news and exclusive interviews.
In just 16 months, physicians went from identifying a novel rare disease in three-year-old Marley to successfully treating her with a drug previously used to treat African sleeping sickness and pediatric cancer.
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 chronicling this lightning-fast scientific response to Bachmann-Bupp Syndrome was published on July 13...
Child with Bachmann-Bupp Syndrome successfully treated in just 16 months 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 chronicling this lightning-fast scientific response to the Bachmann-Bupp Syndrome was published in the open-access journal, eLife. For more than 25 years, André Bachmann, professo...
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. â Six-year-old Marley Berthoud is on the move. âItâs just been this continuum of advancements,â said Kelly Berthoud, Marleyâs mom. âWeâre seeing a lot of progression with her movements.â Marleyâs ability to scoot through her Mattawan home and her head full of hair are just some of the changes ...
Local organizations launch needed resource for people impacted by rare diseases The partnership includes Spectrum, MSU and Calvin University. and last updated 2021-02-20 10:24:57-05 GRAND RAPIDS, Mich. â Spectrum Health, Michigan State University College of Human Medicine, and Calvin University are launching a new resource for people impacted by rare diseases. âThere are some common things that we know families deal with that we try to target our work towards,â said Dr. Caleb Bupp, Division Chief of Medical Genetics and Genomics for Spectrum Health. The website includes storie...