Understanding Multiple Epiphyseal Dysplasia: Decoding the Genetic Blueprint
Abnormal bone and joint development brings pain and stiffness; a COL9A1 mutation is one cause, and MED can arise from several different genetic loci.
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
MSA-C: Balance, Coordination and Genetic Testing
Loss of motor control, speech problems and autonomic issues such as blood pressure and bladder trouble set MSA-C apart from other ataxias, including SCA6.
Neonatal Diabetes Mellitus: Monogenic Causes and Care
Appearing in the first six months of life, NDM comes from a mutation in a single gene, and testing can point to oral sulfonylureas rather than insulin for some infants.
Nephrogenic Diabetes Insipidus: Navigating the Nuances of Genetic Testing
When the kidneys stop responding to antidiuretic hormone, thirst and urination become constant; vasopressin V2 receptor and AQP2 changes explain the inherited form.
Decoding Neurofibroma: The Role of Genetic Testing in Understanding and Managing This Rare Disorder
Most of these nerve sheath tumors are benign but tie closely to Neurofibromatosis Type 1; imaging, NF1 gene testing and the rare Vidian nerve form are described.
NK-Cell Enteropathy and Natural Killer Cell Function
When natural killer cells stop clearing infected and cancerous cells, infections and gut inflammation follow, and testing looks for NK cell deficiency mutations.
Navigating Non-Syndromic Male Infertility Due to Sperm Motility Disorder: The Role of Genetic Testing
Defects in the sperm flagellum, including the axoneme and dynein arms, cut motility, and knowing the mutation shapes choices between IUI, IVF and PGD.
Occipital Encephalocele: Unveiling the Genetic Mysteries Behind a Rare Neural Tube Defect
Explore occipital encephalocele, a rare neural tube defect, with insights on genetic testing, identifying mutations, and assessing family risk for better management.