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Miraculous Marley: A 6-year-old fights on with help of Triangle life science firm Metabolon

Miraculous Marley: A 6-year-old fights on with help of Triangle life science firm Metabolon
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2 years into treatment, girl with new genetic disorder much improved

2 years into treatment, girl with new genetic disorder much improved
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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 chronicling this lightning-fast scientific response to Bachmann-Bupp Syndrome was published on July 13 in the open-access journal, eLife.   Andre Bachmann For more than 25 years, André Bachmann, professor of pediatrics in Michigan State University College of Human Medicine, had been studying the ODC1 gene. This gene and its protein product ODC, which produce polyamines, are crucial for cell survival and contribute to many developmental processes, including muscle tone and motor skills in chil

Child with Bachmann-Bupp Syndrome successfully treated in just 16 months

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, professor of pediatrics in Michigan State University College of Human Medicine, had been studying the ODC1 gene. This gene and its protein product ODC, which produces polyamines are crucial for cell survival and contribute to many developmental processes, including muscle tone and motor skills in children.

Child with rare genetic syndrome successfully treated in less than two years

Child with rare genetic syndrome successfully treated in less than two years
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