MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.
Abnormally tall stature, spinal curvature and enlarged great toes occur together in this rare syndrome, along with a risk of slipped capital femoral epiphysis.
Low platelet counts bring bleeding and easy bruising, and the picture overlaps with ITP; one study found genetic variants in 33% of patients with presumed ITP.
Frequent urinary tract infections, high blood pressure and kidney scarring mark VUR8, a hereditary form linked to TNXB; testing informs prophylaxis or surgery.
THRB encodes a thyroid hormone receptor active in the retina, and variants in it underlie VMD4; two relatives studied showed how widely severity can differ.
Blurred and distorted central vision prompts OCT imaging, while DNA analysis, including a reported THRB mutation in two relatives, can pin down VMD5.
Seizures, hypopituitarism, developmental delay and severe visual impairment follow ARNT2 mutations; testing separates Webb-Dattani syndrome from similar disorders.
Thickened skin on the palms and soles alongside tightly curled hair defines woolly hair-palmoplantar keratoderma syndrome, an autosomal dominant condition.
Beginning in the melanocytes that make skin pigment, melanoma is assessed with the ABCDE rule and biopsy, while CDKN2A and BRAF testing informs risk and care.