Hyperekplexia: Harnessing Genetic Testing for Early Diagnosis and Management
An exaggerated startle response with muscle stiffness starts in infancy and can risk apnea; glycine receptor gene results confirm it and inform clonazepam treatment.
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
Hyperinsulinism Due to HNF4A Deficiency: Harnessing Genetic Testing for Better Outcomes
Low blood sugar that persists in infancy can trace back to an HNF4A variant. Genetic testing, its role in tailoring treatment and its limits are outlined.
Hyperphosphatasia-Intellectual Disability Syndrome: Unraveling Genetic Mysteries
Raised alkaline phosphatase and developmental delay point to HPMRS, caused by PGAP2 changes affecting GPI-anchor proteins. Carrier testing is explained.
Harnessing Genetic Insights: Understanding Hypobetalipoproteinemia
Apolipoprotein B is changed by APOB mutations such as c.1468C>T, reported in one Japanese family, which lower LDL cholesterol without complications.
Harnessing Genetic Insights: Understanding Hypohidrotic Ectodermal Dysplasia
The EDA gene guides skin, hair, nail, tooth and sweat gland development. Mutations cause HED, inherited X-linked recessively and mainly affecting males.
Harnessing Genetic Testing for Hypoplastic Pancreas-Intestinal Atresia-Hypoplastic Gallbladder Syndrome
Underdeveloped pancreas, intestinal atresia and gallbladder hypoplasia can bring neonatal diabetes and malnutrition, and DNA testing helps confirm the diagnosis.
Intricacies of Idiopathic Pulmonary Arterial Hypertension: Unveiling the Genetic Tapestry
High pressure in the lung arteries can progress to heart failure; BMP9 mutations, reported in 6.7% of cases, open the way to early detection and family screening.
Illuminating Inherited Prion Disease: The Role of Genetic Testing
Mutations in the PRNP gene underlie familial Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker syndrome and fatal familial insomnia, all autosomal dominant.