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.
Reduced tear production, malformed ears, missing teeth and fused fingers or toes vary widely from person to person in LADD3, caused by FGF10, FGFR2 or FGFR3 mutations.
Lesinurad blocks the URAT1 transporter so the kidneys clear more uric acid, but the ABCG2 Q141K variant can blunt that effect in some patients.
Underdeveloped myelin and abnormal cartilage growth bring developmental delay, short stature and joint problems in this autosomal recessive disorder.
Progressive loss of white matter brings muscle weakness, poor coordination, seizures and cognitive decline; EIF2B1-EIF2B5 mutations have been found in some cases.
Deterioration of white matter can start in infancy or in adulthood; MRI and neurological examination point to VWM3, which genetic testing then confirms.
Discover the role of genetic testing in diagnosing and managing Leukoencephalopathy with Vanishing White Matter 4 (VWM4), a rare neurological disorder. Learn about its causes,…
Children and some adults lose brain white matter, leading to weakness, seizures and cognitive decline; a blood sample can test for the EIF2B1-5 mutations behind VWM5.
Liver failure in infancy can stem from biliary atresia, alpha-1 antitrypsin deficiency or intrahepatic cholestasis; gene panels and sequencing narrow the cause.