Peering into the Genetics of Bilateral Optic Nerve Aplasia
Absent or underdeveloped optic nerves on both sides cause blindness and may occur with pituitary dysfunction; OCT, MRI and genetic testing are used to assess ONA.
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
Demystifying Orofacial Cleft 7: Genetics, Diagnosis, and the Power of Genetic Testing
Folic acid supplementation in early pregnancy is reported to lower the risk of OFC, while ultrasound and chromosomal microarray analysis assess orofacial cleft 7.
Ovarian Response to FSH: FSHR Variants and Fertility
FSHR and gonadotropin receptor polymorphisms may shape how the ovaries respond to stimulation during IVF, though one study found no link for the G-29A variant.
Decoding the Mysteries of Epidermolytic Palmoplantar Keratoderma with Knuckle Pads
Discover the genetic basis of Epidermolytic Palmoplantar Keratoderma with Knuckle Pads (EPPK) and the role of genetic testing in diagnosis, family planning, and treatment options.
Decoding Papillorenal Syndrome with Macular Abnormalities: Understanding, Diagnosing, and the Role of Genetic Testing
Optic nerve malformations, macular edema or atrophy and kidney impairment occur together in renal coloboma syndrome, and PAX2 testing confirms the diagnosis.
Piebaldism: KIT Gene, White Patches and Hearing Loss
Melanocytes are missing from patches of skin and hair present at birth, often on the forehead, torso and limbs, with hearing loss reported in some cases.
Decoding the Mystery: Understanding, Diagnosing, and Using Genetic Testing for Piebaldism with Sensorineural Deafness
Discover the importance of genetic testing in diagnosing and managing piebaldism with sensorineural deafness, guiding treatment, and aiding family planning.
Decoding Postaxial Polydactyly: Understanding, Diagnosing, and Harnessing Genetic Testing
Extra digits on the ulnar or fibular side may be fully formed or rudimentary, and exome sequencing has tied KIAA0825, ZNF141 and IQCE variants to the condition.