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.
Genetic testing aids early IDAR43 diagnosis, carrier detection, and personalized treatments, empowering families with insights into this rare intellectual disability.
Eyes that do not align properly accompany cognitive difficulty in this syndrome. Corrective lenses, vision therapy and surgery are among the options described.
Affecting the cerebellar vermis, JS18 is linked to CPLANE1 mutations; targeted screening in high-risk families and genetic counseling are both explained.
Some patients develop nephronophthisis and end-stage renal disease alongside hypotonia and delayed development, so testing can flag who needs kidney monitoring.
Enlarged cell nuclei in the kidney's interstitial tissue mark KIN, a rare route to chronic kidney disease, and testing for the FAN1 mutation can confirm it.
Contractures in two or more areas place LCCS4 within the arthrogryposis group; analyzing fetal DNA supports early diagnosis and counseling.
Early neurological symptoms, thalamus and brainstem changes on MRI and raised lactate mark this rare syndrome, which ranges from severe to mild between patients.
Aneurysms, arterial dissections and skeletal or skin changes can point to LDS4; genetic testing separates it from similar vascular disorders and guides monitoring.