Infantile Myofibromatosis 2: PDGFRB and Benign Tumors
Benign myofibromas in skin, bone and sometimes internal organs appear in infancy; PDGFRB mutations underlie the condition and can be found on prenatal screening.
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
Mapping Myopia: Genetic Testing and Myopia 23, Autosomal Recessive
Genetic testing for Myopia 23 helps identify mutations, guides personalized care, informs families, and advances research, crucial for managing this rare condition.
Nephronophthisis 15: Navigating the Genetic Pathway to Diagnosis and Management
CEP164 mutations disturb the cilia that kidney cells depend on, leading to cysts, fibrosis and, over time, end-stage renal disease in children and adolescents.
Navigating Neuronopathy: Understanding Distal Hereditary Motor Neuronopathy Type 5B Through Genetic Testing
Progressive weakness in the distal limbs makes walking and daily tasks harder; TRPV4 and related findings support earlier diagnosis, therapy planning and counseling.
Nonprogressive Cerebellar Ataxia with Intellectual Disability: Navigating Genetic Testing for a Complex Disorder
Impaired motor coordination with cognitive challenges that do not worsen over time defines this disorder, and a novel AIFM1 mutation has been linked to it.
Obesity due to Congenital Leptin Deficiency: Unraveling the Genetic Puzzle
In congenital leptin deficiency, a mutation leaves the appetite hormone leptin absent or faulty, causing severe early obesity. Leptin therapy has shown promise.
Opening the Genetic Gateway: Understanding Obesity Due to Leptin Receptor Gene Deficiency
When the leptin receptor gene is faulty, the brain misses the signal to curb appetite and severe obesity begins early. Testing and counseling uses are set out here.
Overcoming Osteogenesis Imperfecta Type 13: The Role of Genetic Testing in Understanding and Managing the Disorder
Fracture-prone bones, dentinogenesis imperfecta and craniofacial anomalies characterize OI type 13. Genetic testing can tell it apart from other OI types.