Spotlight on Spinocerebellar Ataxia 7: Unraveling the Genetic Threads
An ATXN7 mutation produces an abnormal protein that builds up in the brain, causing loss of coordination and retinal degeneration; DNA analysis detects it.
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
Spinocerebellar Ataxia with Epilepsy: Genetic Testing's Role in Diagnosis and Management
Gait instability, slurred speech and seizures can occur together in SCA-E, usually beginning in adulthood; testing separates it from other ataxias and epilepsies.
Thyroid Gland Carcinoma: Unraveling the Genetic Threads
Which mutation a thyroid carcinoma carries shapes monitoring and targeted treatment. Familial risk and reported carotid body tumor cases are also described.
Vein of Galen Aneurysmal Malformation: Unraveling the Genetic Threads of a Complex Condition
An abnormal link between cerebral arteries and the deep venous system can bring cardiac failure and hydrocephalus in infants; MRI and CT assess the malformation.
Venturing into the Veins: Understanding Von Willebrand Disease Type 2A
Bleeding severity varies widely in VWD2A, even between relatives carrying the same VWF variant, because the factor is produced but does not work properly.
Von Willebrand Disease Type 2B: Genetic Testing's Role in Diagnosis and Management
Enhanced platelet agglutination and a low platelet count set type 2B apart; when the ristocetin assay is ambiguous, VWF gene analysis gives a clearer answer.
Venturing into von Willebrand Disease Type 2M: The Role of Genetic Testing
In VWD 2M the A1 domain of VWF is altered, as in the Milwaukee-1 in-frame deletion, so the factor binds platelets poorly and desmopressin response may differ.
Vigilant Ventures: Understanding von Willebrand Disease Type 2N through Genetic Testing
Also called the Normandy variant, this autosomal recessive form stops Factor VIII binding to vWF, producing bleeding that resembles mild Hemophilia A.