Osteogenesis Imperfecta Type 16: PLS3 Gene Testing
Mutations in PLS3 weaken bone in OI Type 16, bringing fractures, deformities and in some cases hearing loss; testing tells it apart from other OI subtypes.
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
Understanding Pancreatic Agenesis 2: The Role of Genetic Testing
When a newborn has unexplained diabetes, an absent or underdeveloped pancreas may be the cause, and mutations in PTF1A enhancer elements can be identified by testing.
Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome: Unlocking the Power of Genetic Testing
NLRC4 mutations underlie this rare autoinflammatory disease of recurring fever, gastrointestinal symptoms and systemic inflammation, treated in reports with adalimumab.
Perrault Syndrome 5: Unlocking the Genetic Code for a Better Tomorrow
Cells in the ovaries and inner ear rely on mitochondrial energy, and a homozygous ERAL1 mutation upsets it, leading to ovarian dysgenesis and hearing loss.
Platelet-type Bleeding Disorder 18: Genetic Testing and Modern Treatments
Faulty binding between platelet surface receptors and von Willebrand factor underlies PTBD18; next-generation sequencing separates it from similar bleeding disorders.
Platelet-type Bleeding Disorder 19: GP1BA Gain of Function
A gain-of-function GP1BA mutation makes platelets bind von Willebrand factor abnormally, producing autosomal dominant bleeding that mimics von Willebrand disease.
Polyendocrine-Polyneuropathy Syndrome Signs and Testing
PPS combines autoimmune damage to the endocrine glands with peripheral nerve dysfunction, so hormonal imbalance sits alongside numbness, tingling and muscle weakness.
Polyglucosan Body Myopathy Type 1 and the RBCK1 Gene
PBM1 is a rare muscle disorder tied to mutations in RBCK1, and testing can confirm it early, shape a management plan and support genetic counseling for relatives.