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.
Proteins that keep muscle and brain cells intact are disrupted in type A, 7; exome sequencing pinpoints the mutation and can inform family risk before symptoms appear.
In the Spanish Roma population, a BIN1 founder mutation produces the CNM3 pattern of muscle weakness with a rigid spine that DNA testing can confirm.
Persistent rigidity and frequent seizures begin soon after birth, and BRAT1 gene variants have been linked to this severe disorder, helping separate it from lookalikes.
Genetic testing enhances diagnosis and management of Nephronophthisis 13, aiding in accurate diagnosis, treatment decisions, family planning, and future therapies.
Changes in GRN disturb lysosomal storage, so cellular waste accumulates and causes early cone-rod dystrophy, learning difficulties and motor decline in childhood.
Swelling of the optic nerve alongside an enlarged spleen can disturb vision and blood filtering; genetic testing looks for variants linked to the syndrome.
Fat malabsorption, steatorrhea and weight loss follow a shortage of pancreatic lipase; a homozygous PNLIP mutation can be identified and enzyme replacement considered.
Nerve damage, muscle weakness, a hoarse voice and hearing loss vary widely even within one family, and genetic testing is used to confirm this rare syndrome.