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.
Underdeveloped or absent Müllerian ducts occur with raised androgen levels, excess hair growth and acne; WNT4 gene mutations and what testing can show are described.
Beta-myosin heavy chain, made by MYH7, is needed for muscle contraction; variants disrupt it and cause weakness and fatigue that can appear at any age.
Underdeveloped cheekbones, downward-slanting eyes and thumb or forearm anomalies follow from SF3B4 changes that disturb pre-mRNA splicing.
Mutation type shapes how type 2A presents and progresses, so DNA analysis can flag at-risk relatives before symptoms appear, though results need expert reading.
Symptoms overlap with other neuromuscular disorders, so TRPV4 testing helps; variants of uncertain significance and privacy concerns are also discussed.
Nail underdevelopment, discoloration or malformation without other symptoms marks NCND3. Its autosomal dominant pattern, testing and family planning are covered.
Formerly called LEOPARD syndrome, NSML combines dark skin spots, hypertrophic cardiomyopathy and craniofacial features. PTPN11, RAF1 and BRAF testing is discussed.
Jaw and limb underdevelopment varies widely in OLHS, affecting airway management, feeding and mobility; genetic testing can give families a definite diagnosis.