Ocular Albinism: Illuminating the Path to Diagnosis Through Genetic Testing
Low melanin in the retina causes nystagmus, strabismus, photophobia and reduced visual acuity. Testing can identify GPR143 mutations behind ocular albinism.
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
Odontohypophosphatasia: Unraveling the Genetic Threads of a Rare Disorder
ALPL mutations reduce TNSALP enzyme activity in odontohypophosphatasia, a milder form of hypophosphatasia marked by premature tooth loss and defective teeth.
Oligodendroglioma: Unlocking the Genetic Code for Better Outcomes
Arising from oligodendrocytes, oligodendroglioma accounts for about 2-5% of primary brain tumors; the 1p/19q co-deletion informs treatment choices and prognosis.
Omodysplasia: Unlocking Genetic Insights for Better Understanding and Management
Short stature, limb deformities and facial dysmorphisms mark omodysplasia; genetic testing pinpoints the causative mutations and can reveal modifier genes.
Osteochondritis Dissecans: Opening Doors with Genetic Testing
A segment of bone and its cartilage loses blood supply in OCD, often in young athletes; genetic markers are weighed alongside MRI for earlier, clearer diagnosis.
Osteopetrosis: Unlocking the Genetic Code for a Bone of Contention
Osteoclasts fail to resorb bone normally in osteopetrosis, leaving it dense and brittle; work on the NEMO gene and the value of early genetic diagnosis are described.
Pioneering Pathways: Genetic Testing and Papillary Carcinoma of the Corpus Uteri
Also called serous carcinoma, this endometrial cancer often reaches an advanced stage before diagnosis; TP53, PIK3CA and PPP2R1A mutations shape treatment choices.
Perinatal Lethal Hypophosphatasia: Unlocking the Power of Genetic Testing for Early Intervention
Bone mineralization fails when ALPL variants leave too little tissue-nonspecific alkaline phosphatase; asfotase alfa enzyme replacement therapy is also covered.