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.
Autoinflammatory episodes, antibody deficiency and immune dysregulation trace back to PLCG2, a gene central to immune cell signaling, which testing can pinpoint.
Proximal muscle weakness and joint contractures start in childhood, and one altered copy of the gene is enough. Physical therapy and orthopedic support can aid mobility.
Seizures during sleep that arise in the frontal lobe are often misdiagnosed. In ADNFLE5 a CaBP4 variant, c.464G>A (p.G155D), reduces the protein's stability.
Sequencing the PKHD1L1 gene can confirm ARNSHL 18B; work in humans, mice and zebrafish demonstrated that these mutations are pathogenic.
MYO15A shapes the inner-ear hair cells, and a novel biallelic frameshift variant in it was found in a Saudi family with ARNSHL 70, where consanguinity raises risk.
Mutations in both copies of PKHD1L1 can cause hearing loss with no other signs. Early testing identifies them and informs hearing aids, implants and counseling.
Genetic testing can confirm ARNSHL 88 by finding PKHD1L1 mutations that disrupt cochlear hair cells, supporting earlier diagnosis, care and family planning.
Both parents must carry a PKHD1L1 change for a child to have ARNSHL 93. Testing confirms the diagnosis early and informs choices about hearing aids and implants.