Retinoblastoma: The Role of Genetic Testing in Early Detection and Treatment
RB1 mutations underlie most hereditary cases of this childhood eye cancer, and prenatal or early testing lets monitoring begin at birth for at-risk infants.
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
Revealing Rheumatoid Arthritis: The Role of Genetic Testing in Diagnosis and Treatment
An immune attack on the synovium drives swelling, bone erosion and joint deformity. HLA markers, earlier diagnosis, tailored treatment and exosome research are described.
Solving the Mystery of Saldino-Mainzer Syndrome: The Role of Genetic Testing
Cone-rod dystrophy, nephronophthisis and skeletal dysplasia occur together in this ciliopathy, which has been traced to a biallelic mutation in the IFT140 gene.
Senior-Loken Syndrome 1: Unraveling the Genetic Mysteries Behind a Rare Disease
A ciliopathy combining nephronophthisis, which progresses to kidney failure, with retinal dystrophy. NPHP1 and NPHP3 testing can confirm it before all signs appear.
Tooth Agenesis, Selective 4: Unveiling the Genetic Puzzle
Genetic research is examining a link between this form of congenitally missing teeth and benign hereditary chorea, a childhood movement disorder.
Treacher Collins Syndrome 1: TCOF1 Gene and Hearing Loss
TCS1 affects craniofacial development through TCOF1 mutations, inherited in an autosomal dominant pattern. Cleft palate, hearing loss and Bonebridge are discussed.
Unveiling Uterine Leiomyoma: The Role of Genetic Testing in Understanding and Managing Fibroids
Fibroids bring heavy menstrual bleeding, pelvic pain and reproductive problems. A Mendelian randomization study links them to menopause age and insulin markers.
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.