Neurofibromatosis, Type 1: Navigating the Path to Precision with Genetic Testing
Cafe-au-lait spots, Lisch nodules and nerve tumors follow from mutations that disrupt neurofibromin; next-generation sequencing can confirm the diagnosis.
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
Neuromuscular Disease: What Genetic Testing Can Show
Weakness and muscle wasting begin when peripheral motor and sensory nerves fail; work on Usp14 and ubiquitin shows how gene findings shape prognosis and treatment.
New Insights into Niemann-Pick Disease, Type C: The Role of Genetic Testing
Two faulty copies of NPC1 or NPC2, one from each parent, let cholesterol build up in cells, producing the neurological, liver and respiratory problems of NPC.
Non-Hodgkin Lymphoma: Navigating Genetic Testing for Better Outcomes
Cytokine variants such as IL-10 and IL-12p40 may alter risk, while tumor genetic markers help match therapy and stratify patients by likely progression.
What Genetic Testing Adds in Non-syndromic Syndactyly
Fingers or toes fuse before birth, and next-generation sequencing can identify the variants involved, letting families plan surgery and weigh recurrence risk.
Non-syndromic X-linked Intellectual Disability: Decoding the Genetic Puzzle
Affecting mainly males, this X-linked condition causes intellectual impairment without physical signs, and whole-exome sequencing or panels can find the mutation.
Navigating Nonsyndromic Genetic Hearing Loss: The Role of Genetic Testing
A MYO15A variant, c.9908A>C; p.Lys3303Thr, is one reported cause of hearing impairment with no other clinical signs. Whole-exome sequencing and counseling follow.
Noonan Syndrome: PTPN11, SOS1, RAF1 and KRAS Testing
Distinctive facial features, heart defects and developmental delays follow mutations in PTPN11, SOS1, RAF1 or KRAS within the RAS/MAPK pathway. Testing uses follow.