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.
Discover the importance of understanding debrisoquine metabolism and how genetic testing can help in personalizing medicine, improving prenatal care, and drug development.
When the pyruvate dehydrogenase complex works poorly, lactate builds up, causing seizures, developmental delay and ataxia; enzyme and gene tests confirm it.
Crawling, walking and balance can lag because of vestibular hypofunction, infection, or an SCYL1 mutation linked to spinocerebellar ataxia-21.
Losing language, motor or social skills can point to autism spectrum disorder, epileptic encephalopathy or a genetic syndrome such as an RNH1 gene variant.
Hyperglycemia and ketoacidosis in ketosis-prone diabetes follow reversible beta-cell dysfunction, and subgroups are set by autoimmune markers and HLA variants.
Unusual height with other physical differences overlaps with conditions such as Weaver Syndrome, and variants in CEP104, CROCC, NEK1, TOM1L2 and TSTD2 are reported.
Troyer syndrome (SPART), Charcot-Marie-Tooth disease (GDAP1) and hereditary neuralgic amyotrophy (SEPT9) are among the disorders grouped under this limb muscle wasting.
Trouble walking or running can follow muscle imbalance, nerve damage or inflammation, and EMG, nerve conduction studies, imaging and biopsy help narrow the cause.