Understanding Inherited Erythromelalgia: Diagnosis and Genetic Testing
Burning pain, redness and swelling in hands and feet follow SCN9A mutations that overactivate the Nav1.7 sodium channel; triggers and treatment options are outlined.
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
Unlocking the Mystery: Understanding, Diagnosing, and Using Genetic Testing for Dominant Intellectual Disability
A parent with dominant intellectual disability has a 50 percent chance of passing it on. Diagnosis draws on developmental screening, psychological and genetic tests.
Decoding the Mystery: Understanding and Diagnosing Recessive Intellectual Disability
Two copies of a mutated gene, one from each parent, cause recessive intellectual disability. Assessment pairs developmental and psychological evaluation with DNA testing.
Understanding, Diagnosing, and Using Genetic Testing for Isolated GnRH Deficiency
Low or absent GnRH delays puberty and causes infertility, sometimes with anosmia as in Kallmann Syndrome; more than 25 genes can be screened for mutations.
Understanding Isolated Hyperparathyroidism and the Role of Genetic Testing
Overactive parathyroid glands raise blood calcium and can bring kidney stones and osteoporosis; MEN1, CDC73 and CASR testing guides monitoring and surgery choices.
Unraveling the Mystery: Understanding, Diagnosing, and Using Genetic Testing for Isolated Nonsyndromic Congenital Heart Disease
Septal defects, valve abnormalities and outflow tract obstructions appear at birth without a wider syndrome; echocardiogram, catheterization and MRI are covered.
Understanding Juvenile Polyposis: Diagnosis and Genetic Testing
Multiple gastrointestinal polyps can cause bleeding, anemia and abdominal pain, and may turn cancerous; colonoscopy plus BMPR1A and SMAD4 testing guide care.
Understanding, Diagnosing, and Using Genetic Testing for KAT6B-Related Spectrum Disorders
Genitopatellar syndrome and SBBYSS both trace to KAT6B mutations, which chromosomal microarray, targeted sequencing or whole exome sequencing can identify.