Retinitis Pigmentosa 69: Unraveling the Genetic Threads of a Visionary Challenge
The USH2A gene, also linked to Usher syndrome, features in RP69, and testing helps separate isolated from syndromic forms and opens access to clinical trials.
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
Seckel Syndrome 6 Testing: Confirming a CEP152 Mutation
Pinpointing a CEP152 mutation separates this syndrome from similar genetic conditions and gives families carrier information for future pregnancy planning.
Spotlight on Spastic Ataxia 5: Genetic Testing Illuminates New Pathways
Muscle stiffness and impaired coordination make Spastic Ataxia 5 hard to tell apart from similar disorders, so a TUBA4A variant gives clinicians a precise genetic marker.
Stuttering, Familial Persistent, 4 (SFP4): Genetic Basis
Inherited factors shape SFP4, a persistent form of stuttering; testing may support earlier speech therapy, tailored plans and family counseling.
Seeking Solutions: Genetic Testing for Surfactant Metabolism Dysfunction, Pulmonary, 5
Genes controlling surfactant production fail, so alveoli collapse and severe respiratory distress appears early in life; ABCA3 testing supports earlier diagnosis.
Thrombocythemia 3: Platelet Excess and Exome Sequencing
Too many platelets can tip the balance toward clotting or bleeding; the exact genetic mechanisms remain unclear, and whole exome sequencing is used to look for variants.
Thrombomodulin-Related Bleeding Disorder: Gene Variant
On endothelial cells, thrombomodulin helps control clotting; a homozygous variant in its gene disrupts that balance, and recombinant therapy eased symptoms.
Thrombophilia due to Protein S Deficiency: Inheritance
Protein S normally works with activated protein C to switch off factors Va and VIIIa; when both gene copies are mutated, venous thromboembolism becomes more likely.