Decoding the Maze of Primary Microcephaly: Genetic Insights and Diagnostic Approaches
Autosomal recessive inheritance and 25 identified MCPH genes, among them MCPH1, WDR62 and MCM7, underpin diagnosis, carrier testing and prenatal testing.
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
Decoding Pseudocholinesterase Deficiency: Understanding, Diagnosing, and the Role of Genetic Testing
With pseudocholinesterase deficiency, the body breaks down succinylcholine and mivacurium slowly, which can prolong neuromuscular block after anesthesia.
RRQTL1: Recombination Rate and Genetic Testing
A quantitative trait locus, RRQTL1 influences how often genetic material is reshuffled as sperm and egg cells form, which can affect susceptibility to disease.
Unlocking the Mysteries of Adult Refsum Disease: Genetic Testing for Diagnosis and Management
Discover the importance of genetic testing in diagnosing and managing Adult Refsum Disease, type 1. Learn how it guides treatment, family planning, and advances research.
Unlocking the Mysteries of LRAT-Related Early-Onset Severe Retinal Dystrophy
Severe sight impairment from birth, a form of Leber congenital amaurosis, follows LRAT mutations that disrupt the visual cycle; fundus imaging, OCT and ERG come first.
Unlocking the Mysteries of Retinitis Pigmentosa 39: Understanding, Diagnosing, and Utilizing Genetic Testing
Two mutated copies of CERKL, the gene behind ceramide kinase, cause RP39; visual acuity, field testing and ERG are paired with DNA analysis to confirm it.
Unlocking the Mysteries of Retinitis Pigmentosa 7: Genetic Testing for Diagnosis and Management
Two genes, PRPF8 and PRPF31, are both altered in this digenic form of RP. Confirming both mutations supports diagnosis and preimplantation genetic testing.
LRAT-Related Retinitis Pigmentosa: Diagnosis and Testing
The LRAT gene supports the visual cycle and the regeneration of rhodopsin; when it is mutated, retinal degeneration progresses and carriers can be identified.