Advancements in Understanding Adams-Oliver Syndrome 2 Through Genetic Testing
Scalp defects at birth together with limb anomalies characterize AOS2, which is linked to DOCK6 variants; testing confirms the subtype and informs genetic counseling.
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
Alpha-Methylacyl-CoA Racemase Deficiency: Unlocking the Mysteries of a Rare Disorder Through Genetic Testing
Mutations in the AMACR gene disrupt the breakdown of branched-chain fatty acids and bile acid intermediates, the cause of alpha-methylacyl-CoA racemase deficiency.
Anhaptoglobinemia: HP Gene Mutations and Haptoglobin
Without haptoglobin to bind free hemoglobin, oxidative stress can damage organs and lead to hemolytic anemia; HP gene mutations are found by DNA testing.
Apolipoprotein C-III Deficiency and APOC3 Testing
The APOC3 gene encodes a protein that regulates blood triglyceride levels, and pinpointing mutations in it supports family screening and tailored lipid management.
Understanding Arthrogryposis, Perthes Disease, and Upward Gaze Palsy: The Role of Genetic Testing
Femoral head degeneration, limited upward eye movement and joint contractures combine in this autosomal recessive syndrome, which genetic testing can confirm.
Aspergillosis Susceptibility: Unraveling Genetic Testing's Role in Disease Management
Cytokine pathways and receptors influence who develops allergic bronchopulmonary aspergillosis, and testing can flag asthma patients who need closer monitoring.
Atrial Fibrillation, Familial, 10: Navigating Genetic Testing for Better Heart Health
Inherited rather than lifestyle-driven, AFF10 can be picked up by genetic screening before symptoms start; diet, activity and alcohol limits round out management.
Atrial Fibrillation, Familial, 11: Who Should Be Tested
Irregular, rapid heartbeats that run in families raise the risk of stroke and heart failure; RBM20 research and DNA screening help flag relatives before symptoms.