Noonan Syndrome 10: Diagnosis, Care and Vosoritide
Short stature, heart defects and distinctive facial features mark this autosomal dominant disorder. Research on vosoritide and growth is also summarized here.
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
Navigating Noonan Syndrome 9: The Role of Genetic Testing in Diagnosis and Management
Explore genetic testing's impact on diagnosing and managing Noonan syndrome 9, highlighting early diagnosis, personalized treatment, and family planning benefits.
Oculocutaneous Albinism Type 6: Genetic Testing's Role in Diagnosis and Management
Unlock the potential of genetic testing for precise diagnosis and personalized management of Oculocutaneous Albinism Type 6, enhancing quality of life.
Optic Atrophy 9: Illuminating the Path with Genetic Testing
Onset can come in childhood or adulthood, with optic nerve degeneration slowly reducing vision; genetic testing supports earlier OPA9 diagnosis and family planning.
Osteogenesis Imperfecta Type 17: Signs and Gene Testing
Brittle bones, blue sclera, hearing loss and dental imperfections follow disrupted type I collagen in OI Type 17, and a genetic result can end diagnostic uncertainty.
Pinpointing Parkinson Disease 21: The Promise of Genetic Testing
De novo mutations found in early-onset Parkinson's point to three candidate genes, PTEN, VAPB and ASNA1, and testing can separate this form from other types.
Parkinson Disease 22, Autosomal Dominant: The Genetic Key to Unlocking Early Detection and Treatment
Carriers of the LRRK2 p.L1795F variant, seen mainly in people of European descent, show enhanced kinase activity that can guide monitoring and treatment choices.
Peering into Peeling Skin-Leukonychia-Acral Punctate Keratoses-Cheilitis-Knuckle Pads Syndrome: Genetic Testing Unveiled
Peeling skin, white nails, acral punctate keratoses, cheilitis and knuckle pads make up PLACK syndrome, which has been traced to a recurrent CAST gene variant.