HSAN2B Symptoms and Early Genetic Diagnosis
Loss of pain and temperature sensation, autonomic dysfunction and unhealed injuries characterize HSAN2B, a rare neuropathy linked here to a TECPR2 variant.
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
New Genetic Insights into Neutropenia: Severe Congenital, 2, Autosomal Dominant
ELANE encodes neutrophil elastase, and mutations that disrupt the enzyme leave counts dangerously low, so testing supports early diagnosis and PGD decisions.
Understanding Nijmegen Breakage Syndrome-like Disorder: The Role of Genetic Testing
Microcephaly, growth retardation, immunodeficiency and cancer predisposition follow mutations that disrupt the DNA damage response, which sequencing can confirm.
Noise Induced Hearing Loss: Unraveling the Genetic Code to Combat a Silent Threat
Loud, prolonged noise damages hair cells in the inner ear, yet genes influence who is most vulnerable, so testing can guide hearing protection and check-ups.
Navigating Noonan Syndrome 6: The Role of Genetic Testing in Diagnosis and Management
Variants in the LZTR1 gene underlie this form, including a reported biallelic case. High-throughput sequencing, counseling and interpretation limits are discussed.
PPK1: Focal Palmoplantar Keratoderma and Cathepsin Z
Focal thickening of the palms and soles, usually passed on in an autosomal dominant pattern, defines PPK1; defective cathepsin Z variants alter EGFR expression in skin.
Pinpointing Pancreatic Cancer Susceptibility: The Power of Genetic Testing
Germline pathogenic variants appear in 20% of pancreatic cancer patients, and finding BRCA1 or BRCA2 changes can point to PARP inhibitors and testing for relatives.
Pancreatic Cancer, Susceptibility to, 3: The Promise of Genetic Testing
The GENERATE study offered remote genetic education and testing to families with a history of pancreatic cancer, finding high uptake and no significant rise in anxiety.