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.
Disrupted N-glycosylation from a homozygous ALG9 splice variant underlies this lethal recessive dysplasia, with skeletal, facial, heart and renal malformations.
Too little clotting factor IX from F9 gene mutations leads to prolonged bleeding; clotting assays set severity while sequencing confirms it and finds female carriers.
About 1 in 5,000 male births involves a shortage of clotting factor VIII from F8 mutations; testing can flag inhibitor risk, carrier status and surgical planning needs.
Discover Hereditary Neuralgic Amyotrophy (HNA), its diagnosis, and the importance of genetic testing in managing this rare genetic disorder affecting peripheral nerves.
Defective heme production leaves iron trapped in red-cell mitochondria. HSAML stems from PUS1 mutations and appears when both parents pass on the altered gene.
Muscle weakness that begins in the pelvis and shoulders, Paget's disease of bone and cognitive change follow VCP mutations; biopsy, EMG and imaging also help.
Protein inclusions build up in muscle fibers and cause progressive weakness; diagnosis combines clinical exam, muscle biopsy and GNE, HNRNPA2B1 and HNRNPA1 testing.
Kidney, liver and heart function can fail rapidly in affected infants, with poor feeding, breathing trouble and seizures; genetic testing may reveal an underlying cause.