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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
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.