Hereditary Heart and Hand: Navigating Holt-Oram Syndrome with Genetic Testing
Known as a heart-hand syndrome, it pairs septal defects with thumb and upper-limb anomalies; TBX5 mutations explain it, though severity varies between relatives.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
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).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, 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.
Articles by Brandon
Heralding Hope: Understanding Huntington Disease Through Genetic Testing
An HTT gene mutation passes in an autosomal dominant pattern, so a child of an affected parent has a 50% chance. Confirmatory, predictive and carrier testing are covered.
Harnessing Genetic Testing for Hyper-IgE Recurrent Infection Syndrome 1
Also called Job's syndrome, HIES1 brings raised IgE, repeated bacterial and fungal infections, eczema and connective tissue changes. STAT3 testing confirms it.
Harnessing the Power of Genetic Testing in Hypercholesterolemia, Autosomal Dominant, Type B
One altered copy of the gene is enough to raise LDL cholesterol here, and genetic heterogeneity shapes how severe it becomes. Diagnosis and family screening are covered.
Harnessing Genetic Testing for Hypercholesterolemia, Familial, 1: Navigating the Path to Personalized Medicine
Autosomal dominant mutations lift LDL-C and cardiovascular risk early in life. Monogenic variants, polygenic risk scores and cascade screening of relatives are explained.
Harnessing Genetic Testing for Hyperglycinuria: Unlocking Insights into a Rare Disorder
Faulty glycine transport genes leave the kidneys unable to reabsorb glycine well. Hyperglycinuria may signal disorders such as nonketotic hyperglycinemia (NKH).
Harnessing Genetic Insights: Understanding Hyperlipidemia, Familial Combined, LPL Related
The LPL variant D151N has been linked to familial combined hyperlipidemia and early-onset coronary heart disease. Genetic testing and family screening are covered.
Harnessing Genetic Testing for Hyperostosis Cranialis Interna: A Pathway to Precision Medicine
Excess bone growth inside the skull can press on cranial nerves and raise intracranial pressure. Genetic testing, diagnosis and family planning are discussed.