Androgen Resistance Syndrome: Understanding Genetic Testing's Role
People with an XY chromosome pattern may develop female traits when AR gene mutations block the body's response to androgens; testing pinpoints the mutation.
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
Anterior Segment Dysgenesis: Unlocking the Genetic Mysteries Through Testing
Twenty genes have been linked to non-syndromic childhood glaucoma with anterior segment dysgenesis, and panels can confirm the diagnosis in young children.
Antisynthetase Syndrome: Unlocking the Genetic Code to Better Understand and Manage the Disease
Myositis, interstitial lung disease and arthritis alongside autoantibodies such as anti-Jo-1 mark this rare autoimmune condition, often confused with others.
Understanding ATTRV122I Amyloidosis: The Role of Genetic Testing in Diagnosis and Management
A mutation in the TTR gene lets amyloid build up in cardiac tissue, causing restrictive cardiomyopathy; testing separates ATTRV122I from other amyloidoses.
Advancements in Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease: The Role of Genetic Testing
Weakness, muscle atrophy and sensory loss beginning in the feet and legs mark ADI-CMT. Testing names the subtype and informs family planning decisions.
Decoding the Silence: Understanding Autosomal Dominant Nonsyndromic Hearing Loss
Hearing loss running through a family without other symptoms can stem from a CEACAM16 missense variant affecting the inner ear's tectorial membrane.
Understanding Autosomal Erythropoietic Protoporphyria: The Role of Genetic Testing in Diagnosis and Management
Burning pain, redness and swelling after brief sun exposure follow FECH mutations that let protoporphyrin accumulate. Sun avoidance and liver monitoring follow.
Advancing Understanding: Genetic Testing for Autosomal Recessive Non-Syndromic Intellectual Disability
Cognitive impairment without physical or syndromic features marks ARNID, which a homozygous TRAPPC9 mutation was found to cause in a family from Sudan.