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.
Fusion of the delta and beta globin chains creates a variant that mimics beta-thalassemia trait with mild anemia, so DNA analysis is used when electrophoresis is unclear.
Rarely reported worldwide, this beta-chain variant can bring anemia, jaundice and an enlarged spleen; electrophoresis plus HBB sequencing confirm it and find carriers.
Up to 60% of people with essential tremor have a family history, but no causative gene is confirmed, so diagnosis still rests on clinical and family evaluation.
Syndromic and non-syndromic forms may be dominant, recessive or X-linked; target-enriched massively parallel sequencing checks many genes at once to find the cause.
UMPS mutations disrupt nucleotide production in hereditary orotic aciduria type 1, bringing developmental delays and movement disorders that are often misdiagnosed.
Organs arranged outside the usual left-right pattern can affect the heart, lungs, liver and spleen. Research links DAND5, CC2D1A and copy number variation.
Severe nearsightedness raises the risk of retinal detachment, glaucoma and cataracts. An eye gene panel found the genetic cause in 20% of one study population.
Some people control the virus without antiretroviral therapy, and protective HLA alleles, HLA-C SNPs and CCL5/RANTES polymorphisms are among the factors studied.