Peering into Progressive Retinal Dystrophy Due to Retinol Transport Defect
Explore Progressive Retinal Dystrophy due to Retinol Transport Defect. Discover how genetic testing aids in early detection, personalized care, and family planning.
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
Probing Pulmonary Hypertension: Genetic Testing's Role in Neonatal Susceptibility
Reduced oxygenation and respiratory distress in a newborn can follow high pressure in the lung arteries, where congenital defects and genetic factors both play a part.
Probing Pulmonary Hypertension: The Promise of Genetic Testing
Often idiopathic, PH2 raises pressure in the pulmonary arteries and strains the heart; screening for BMPR2 supports earlier diagnosis and risk checks in relatives.
Probing the Puzzles: Genetic Testing and Pulmonary Hypertension, Primary, 3
BMPR2 shapes cell growth in the pulmonary arteries, and confirming a mutation separates PPH3 from other forms of pulmonary hypertension and informs long-term care.
Pinpointing Pulmonary Hypertension, Primary, 4: The Role of Genetic Testing
Shortness of breath, fatigue and dizziness mark PHPP4, a genetic form of pulmonary hypertension where mutation findings support monitoring and family risk assessment.
Revealing the Complexities of Renal-Hepatic-Pancreatic Dysplasia 2: The Role of Genetic Testing
RHPD2 disturbs development of the kidneys, liver and pancreas, with wide phenotypic variability and frequent perinatal loss that makes diagnosis difficult.
Retinitis Pigmentosa 66: The Genes Behind Vision Loss
More than 80 genes are implicated across retinitis pigmentosa, and about half of cases have no identified cause. Testing can confirm RP66 and its inheritance.
Genetic Testing for CARD11 Deficiency in SCID
The CARD11 gene switches on T and B lymphocytes; when it fails, infants face recurrent infections and failure to thrive that DNA analysis can trace to a mutation.