Ataxia-Telangiectasia Variant: Symptoms and ATM Gene
Milder than classical A-T, this variant brings ataxia, spider-like telangiectasias and immunodeficiency; ATM and SETX mutations can be found by genetic testing.
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
Atrophodermia Vermiculata: Cheek Lesions and MYH9
Pitted, atrophic lesions appear on the cheeks in childhood; research on MYH9 variants in related skin disorders suggests a genetic basis for this condition.
Autosomal Dominant Hypocalcemia: Genetic Insights into a Silent Disruptor
Mutations in the calcium-sensing receptor (CaSR) gene lower blood calcium and can bring muscle cramps, spasms and seizures, which testing for ADH helps confirm.
Autosomal Recessive Brachyolmia: Unraveling the Genetic Code
Short stature with spinal abnormalities marks this rare skeletal disorder, caused by PAPSS2 mutations in the sulfation pathway that bone growth depends on.
Understanding Autosomal Recessive Distal Renal Tubular Acidosis: A Genetic Perspective
Kidneys that cannot acidify urine lead to metabolic acidosis in AR dRTA; ATP6V1B1 mutations impair renal proton pumps, and alkali therapy neutralizes blood acidity.
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita: Unlocking the Mysteries with Genetic Testing
Joint contractures, hypotonia and delayed motor development begin before birth in ARMAMC, a neuromuscular disorder that requires two copies of an abnormal gene.
Understanding Autosomal Recessive Spastic Ataxia: The Role of Genetic Testing
Stiff muscles paired with poor coordination mark ARSA, which has been linked to a biallelic CHP1 mutation that impairs the NHE1 exchanger and pH balance.
AXIN2-related Attenuated Familial Adenomatous Polyposis: Genetic Testing as a Beacon of Hope
Ten to a hundred colorectal polyps can form when an AXIN2 mutation disturbs Wnt signaling. Testing marks who needs earlier, more frequent colonoscopy.