Vitelliform Macular Dystrophy 2: Unveiling the Genetic Mysteries Behind Vision Loss
Loss of sharp central vision in VMD2 has been traced to a complex IMPG2 allele, with splicing defects and haploinsufficiency described as the mechanisms involved.
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
Waardenburg Syndrome Type 3 (Klein-Waardenburg): PAX3 Role
Limb defects and joint contractures accompany hearing loss and pigmentation changes in WS3, an autosomal dominant condition caused by mutations in PAX3.
Understanding 11q Partial Monosomy Syndrome: The Role of Genetic Testing
A deletion on the long (q) arm of chromosome 11 causes 11q partial monosomy, with developmental delays and congenital anomalies. Microarray testing maps it.
Understanding 3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency: The Role of Genetic Testing
Mutations in SRD5A2 on chromosome 2 cut conversion of testosterone to DHT, so a newborn may have ambiguous genitalia; carrier and prenatal testing are options.
Acne Inversa, Familial, 1: Genetic Testing and Risk
Painful nodules, abscesses and scarring where skin rubs together mark this familial form of hidradenitis suppurativa, usually appearing after puberty and persisting.
Adermatoglyphia: Unveiling the Genetic Mysteries of the "Fingerprintless" Condition
Explore adermatoglyphia, the genetic condition causing absent fingerprints. Understand its diagnosis, challenges, and role of genetic testing in family planning.
Amelogenesis Imperfecta, Hypocalcification Type: Unveiling the Genetic Blueprint
Soft, poorly mineralized enamel brings sensitivity, cavities and cosmetic concerns; an AMELX, ENAM or MMP20 mutation confirms this subtype of amelogenesis imperfecta.
Anterior Segment Dysgenesis 4: Unveiling the Genetic Puzzle
FOXE3 variants can underlie ASD4, and identifying them separates the condition from similar eye disorders and supports monitoring for glaucoma and cataracts.