Unlocking the Secrets of Osteogenesis Imperfecta: A Comprehensive Guide
One altered copy of a collagen gene causes dominant OI and gives a 50% chance of passing it on; mutation analysis, linkage analysis and prenatal testing are explained.
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
Cracking the Code: Understanding and Diagnosing Recessive Osteogenesis Imperfecta
Two copies of a mutated gene, one from each parent, cause recessive OI; molecular testing, carrier screening and prenatal diagnosis by CVS or amniocentesis are covered.
Understanding, Diagnosing, and Using Genetic Testing for OTX2-Related Syndromic Microphthalmia
Abnormally small eyes, sometimes anophthalmia, follow OTX2 mutations that may also affect hearing and the pituitary; testing confirms autosomal dominant inheritance.
Decoding the Mysteries of PALB2-Related Disorders: A Comprehensive Guide
When PALB2 cannot repair damaged DNA, breast and pancreatic cancer risk rises; a blood or saliva test guides screening, family planning and treatment decisions.
Decoding the Mysteries of Dominant Parkinson's Disease: Genetic Testing and Beyond
Inheriting one altered copy of SNCA, LRRK2 or VPS35 is enough to cause this form, and carrier, prenatal or preimplantation testing is available to affected families.
Understanding Parkinson's Disease and Its Genetic Factors
Discover the role of genetic testing in diagnosing Parkinson's disease, identifying genetic mutations, informing treatment plans, and monitoring disease progression. Improve…
Recessive Parkinson Disease: Inheritance and Gene Testing
Two copies of a mutated gene, one from each parent, are needed for this form; a blood or saliva sample can be analyzed for PARK2, PINK1 and DJ1 variants.
Unlocking the Mystery of Parkinsonism-plus: Genetic Testing and Diagnosis
Multiple system atrophy, progressive supranuclear palsy, corticobasal degeneration and Lewy body dementia share Parkinson's features plus early falls and dementia.