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.
Excess adrenaline and noradrenaline from a usually benign adrenal tumor drive its symptoms; germline SLC25A11 findings and VHL variants guide screening of relatives.
An underdeveloped cerebellum and brainstem give PCH1A severe developmental delay; MRI shows the changes, and RARS2, AMPD2 and SEPSECS variants have been linked to it.
The cornea's innermost cells take on epithelial traits in PPCD1, clouding vision; the OVOL2 promoter variant c.-307T>C is confirmed, though other loci may contribute.
Loss of a small stretch of chromosome 16 brings developmental delay, speech difficulty and autism spectrum disorder; microarray or FISH confirms the 16p11.2 deletion.
Mutations in RLBP1 disrupt CRALBP, a protein the retina depends on. Retinitis pigmentosa, Bothnia dystrophy and Newfoundland rod-cone dystrophy are covered, with testing.
Short stature, a broad forehead, widely spaced eyes and underdeveloped finger and toe bones mark this form of Robinow syndrome, caused by ROR2 gene mutations.
Fused and extra fingers and toes join short stature and distinctive facial features in this recessive form. ROR2 testing confirms it and guides supportive care.
An autosomal dominant disorder, BFN1 causes recurrent newborn seizures that usually stop by six months, while myokymia is linked to the SCN2A gene.