ARSCA10: Childhood Ataxia, Diagnosis and Management
Unsteady walking, slurred speech and, in some children, seizures point toward ARSCA10. DNA analysis confirms it, and therapies focus on movement and speech.
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
Candidiasis, Familial, 6 (CANDF6): Testing and Care
Persistent Candida infections of the skin, nails and mucous membranes define CANDF6, a form of chronic mucocutaneous candidiasis that DNA testing can pin to a mutation.
Genetic Testing for Cataract 16 Multiple Types
Clouding of the lens in Cataract 16 can begin at different stages of life. DNA analysis is presented as a route to earlier diagnosis, tailored care and family risk.
CBL-related Disorder: Developmental Signs and Tests
Changes in the CBL gene disturb cellular signaling and can bring developmental delays, intellectual disability and seizures; testing supports early intervention.
Chromosome 17q11.2 Deletion Syndrome: Unlocking the Mysteries with Genetic Testing
Loss of roughly 1.4Mb from chromosome 17 disrupts several genes, and the resulting developmental delays and physical anomalies vary widely between people.
Chromosome 1p32-p31 Deletion Syndrome: Unraveling the Genetic Mysteries
Genes including CAMTA1 and NFIA sit in the region lost between bands p32 and p31 on chromosome 1, where developmental delay and kidney problems are reported.
Cracking the Code: Genetic Testing and Cocoon Syndrome
Joint contractures wrapping the limbs, skin abnormalities and growth delays define this rare autosomal recessive disorder; testing limits are discussed.
COG4-Congenital Disorder of Glycosylation: Gene and Tests
A faulty COG4 gene disrupts the conserved oligomeric Golgi complex behind glycosylation, giving developmental delay and multi-system effects that DNA testing confirms.