Perrault Syndrome 4: Pioneering Pathways in Genetic Testing
Carrier screening can show whether parents carry the ERAL1 mutation that disturbs mitochondrial ribosome assembly, causing ovarian dysgenesis and deafness.
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 Phosphohydroxylysinuria: A Genetic Insight
Lysine processing is affected in this rare metabolic condition, usually passed on in an autosomal recessive way, so both parents carry the mutation involved.
Pioneering Pathways: Genetic Testing for Platelet-type Bleeding Disorder 15
Easy bruising, frequent nosebleeds and prolonged bleeding after surgery point to a platelet adhesion defect; GPIbbeta mutations confirm this bleeding disorder.
Pinpointing Polydactyly: Genetic Testing for Postaxial Type A6
Genetic testing can separate isolated polydactyly from syndromic forms; GLI3 mutations are associated with both isolated polydactyly and Pallister-Hall syndrome.
Pinpointing Precocious Puberty: The Promise of Genetic Testing in Central Precocious Puberty 2
Variations in KISS1R, MKRN3, DLK1 and PROKR2 can switch on the puberty axis early, and testing helps separate familial CPP 2 from idiopathic cases.
Pinpointing Primary Ciliary Dyskinesia 20: Genetic Testing's Role in Diagnosis
Where electron microscopy is scarce, as in Brazil, PCD20 is often missed or misdiagnosed; genetic screening can complement existing methods and bring diagnosis forward.
Primary Ciliary Dyskinesia 22 and Next-Generation Sequencing
Sequencing has made PCD22 easier to separate from lookalike respiratory conditions, with a dedicated gene panel reporting 81.1% sensitivity and 100% specificity.
Pinpointing Primary Ciliary Dyskinesia 23: The Role of Genetic Testing
Research in Brazil found severe lung impairment and altered mucus in patients with PCD23; DNA analysis narrows the cause when symptoms overlap other lung diseases.