Epilepsy, Familial Focal, with Variable Foci 3: Decoding a Genetic Puzzle
NPRL3 belongs to the GATOR1 complex that regulates cell growth; variants disturb brain function in FFEVF3, and predictive testing can identify relatives who carry them.
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
Familial Isolated Hyperparathyroidism: Genetic Testing's Role in Diagnosis and Management
Overactive parathyroid glands push blood calcium up, bringing kidney stones, bone pain, fatigue and low mood; MEN1, CDC73 and CASR are the genes typically examined.
Fanconi Anemia Complementation Group R: Unlocking Genetic Testing's Potential
Unlock insights into Fanconi Anemia Group R with genetic testing. Discover how it aids in diagnosis, personalized treatment, family planning, and research.
Fanconi Anemia Complementation Group U: Unraveling Genetic Testing's Potential
Reduced production of every blood cell type marks group U; carrier screening, consent, privacy and counselling are set out alongside what a DNA result can show.
Fanconi Anemia Complementation Group V: Unlocking the Genetic Mysteries
Complementation analysis singled out group V as a distinct form of Fanconi anemia, and a named mutation can open access to clinical trials and closer monitoring.
Frontometaphyseal Dysplasia 2: Genetic Testing's Role in Diagnosing Rare Bone Disorders
Craniofacial changes such as a prominent forehead, hypertelorism and mandibular hypoplasia point to FMD2, and FLNA gene testing can confirm the diagnosis.
Genetic Glimpses: Understanding Glaucoma 3, Primary Congenital, E Through Genetic Testing
Abnormal development of the eye's drainage system raises pressure in infancy, with CYP1B1 the most common gene involved, alongside TEK, ZC2HC1C, VPS13D and PGF.
Glimpsing the Genetic Underpinnings of Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies
Twenty-two new cases of ZNF148 mutation have been reported in a syndrome combining developmental delay, corpus callosum changes and dysmorphic facies.