In a study published in the American Journal of Medical Genetics, PHD researcher André S. Bachmann, PhD and Spectrum Health physician Caleb Bupp, MD identify a novel genetic condition linked to the ODC1 gene. Dr. Bachmann, who has studied ODC1 (and in particular, its relationship to the pediatric cancer neuroblastoma) for several decades, was contacted by Dr. Bupp after he found the mutation in the genome of a 3-year-old patient. This as-of-yet unnamed syndrome causes developmental delays, hair loss, restricted muscle movement, increased body mass, low muscle tone, and difficulty hearing and seeing.
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