What ARHGAP31 Testing Reveals in Adams-Oliver Syndrome 3
Severity in AOS3 ranges from mild to severe, and a novel ARHGAP31 variant helps explain it; testing separates AOS3 from similar syndromes and guides family planning.
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
Aicardi-Goutières Syndrome 6: Unlocking the Genetic Mysteries
Overproduction of interferons inflames and damages brain tissue in AGS6, which is usually inherited when both parents carry a copy of the altered gene.
Alternating Hemiplegia of Childhood 2: Unlocking the Mysteries with Genetic Testing
Recurrent bouts of temporary paralysis that can alternate sides define AHC2, a rare early-childhood disorder. Identifying ATP1A3 mutations can confirm it.
Amelogenesis Imperfecta Hypomaturation Type 2A4: Unveiling the Genetic Blueprint
Enamel that never fully matures leaves teeth discolored, fragile and prone to wear in type 2A4; early genetic screening lets families start preventive care sooner.
Amyotrophic Lateral Sclerosis Type 18: Harnessing Genetic Insights for Hopeful Horizons
FUS gene changes disrupt RNA processing in ALS18. Identifying the mutation separates it from other ALS forms and informs counseling and family planning.
Addressing Aortic Aneurysm, Familial Thoracic 8: The Role of Genetic Testing
Autosomal dominant mutations weaken connective tissue in the aorta in AAT8, so carrier identification supports imaging, lifestyle changes and screening of relatives.
Genetic Insights into Atrial Fibrillation, Familial, 13: Unraveling the Mysteries of Hereditary Heart Rhythms
Early-onset atrial fibrillation with heart block has been tied to a DES mutation, and modifiers such as PDE4DIP may shape how AFF13 develops within a family.
Atrial Fibrillation, Familial, 14: Unraveling the Genetic Threads of Cardiac Rhythm Disorders
Research in the European Heart Journal ties AFF14 to a genetic cause linking cardiac contraction and rhythm; testing informs relatives' risk and therapy choices.