Decoding Charcot-Marie-Tooth Disease Type 1B with Focally Folded Myelin Sheaths: A Genetic Testing Guide
Ser49Leu and Asn131Lys changes in MPZ have been reported in CMT1B with focally folded myelin sheaths, a pattern genetic testing can confirm.
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 the Mysteries of Chondrodysplasia Punctata 2, X-Linked Dominant
Dot-like calcium deposits in bone growth plates mark CDPX2, caused by EBP gene mutations that impair cholesterol metabolism. Females often have milder symptoms.
Unlocking the Mysteries of Chorioretinal Coloboma: A Guide to Understanding, Diagnosing, and Using Genetic Testing
Incomplete closure of the embryonic fissure leaves a gap in the choroid and retina; chorioretinal coloboma affects about 1 in 10,000 people and can impair vision.
Chronic Adenoiditis: Symptoms, Diagnosis and Genes
Persistent inflammation of the adenoids brings congestion, mouth breathing, snoring and repeated ear infections; nasal endoscopy and gene testing are covered.
Decoding the Enigma: Understanding and Diagnosing Cryptogenic Cirrhosis
Liver scarring with no identified cause is the starting point, with research linking Familial Mediterranean Fever, halothane exposure and gene testing.
Unraveling the Mystery of Coagulation Factor Deficiency Syndrome: Genetic Testing and Diagnosis
Missing or faulty clotting factors cause abnormal bleeding and bruising, as in hemophilia A, hemophilia B and von Willebrand disease; testing uses are covered.
Collapse: Genetic Causes and When Testing Helps
An abrupt loss of strength or consciousness has neurological, cardiovascular, metabolic or psychological causes; DNA analysis sometimes names the disorder behind it.
Decoding the Mystery of Color Vision Defect: Understanding, Diagnosing, and Genetic Testing
Discover the importance of genetic testing in diagnosing color vision defects, including red-green and blue-yellow color blindness, for accurate diagnosis and better management.