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.
Weight gain, hypertension and diabetes follow the cortisol excess of PPNAD4, which is often linked to PRKAR1A and inherited in an autosomal dominant pattern.
A child must inherit two copies of the altered gene to develop BPPAR, which brings language and motor deficits while verbal memory is often comparatively preserved.
Developmental delay and motor dysfunction in PCH2E trace back to VPS53 mutations affecting protein trafficking, and early therapy can help manage the symptoms.
Three features define PPAFDS: postaxial polydactyly, anterior pituitary anomalies and facial dysmorphism. Identifying the mutation can guide hormone monitoring.
Early depletion of ovarian follicles marks POF8, with genetic, environmental and autoimmune components; calponin 2 research and fertility preservation are covered.
Calponin 2 loss in mice caused premature ovarian insufficiency, a clue to the genetics of POF9; risk identification, early diagnosis and hormone therapy are covered.
Traced to populations in Japan and Korea, the DRC1 variant behind PCD24 disrupts the cilia that clear mucus; testing supports earlier care for lungs and hearing.
Impaired mucociliary clearance in PCD25 leads to repeated chest infections, sinusitis and, in severe cases, bronchiectasis; genetic testing supports earlier management.