Deciphering Developmental and Epileptic Encephalopathy, 31: The Role of Genetic Testing
Several mutations can lead to DEE31, and the metabolic dysfunction they cause worsens seizures; variants of unknown significance make results hard to interpret.
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 Developmental and Epileptic Encephalopathy, 32: The Role of Genetic Testing
Clinical observation alone often cannot separate DEE32 from similar epilepsy syndromes; DNA analysis identifies the mutation and helps match therapy to the individual.
Decoding Developmental and Epileptic Encephalopathy, 33: The Promise of Genetic Testing
EEF1A2 governs protein synthesis, and mutations disrupt brain function in DEE33, where seizures start early; identifying the variant guides medication and counseling.
Decoding Developmental and Epileptic Encephalopathy, 50: The Role of Genetic Testing
Seizures and developmental regression in DEE50 trace back to the GNB1 gene; a confirmed mutation supports earlier care, drug selection and prenatal testing.
Decoding DOCK2 Deficiency: The Role of Genetic Testing in Unraveling Immune Mysteries
An immunodeficiency that weakens CD8+ T-cell responses and delays clearance of infections such as herpes simplex virus, DOCK2 deficiency is confirmed by DNA analysis.
Dyskeratosis Congenita, Autosomal Dominant 6 (RTEL1)
Skin, nails and mucous membranes are affected in this subtype, which has been linked to RTEL1 mutations and is being studied as a target for gene therapy.
Diving into Dyskeratosis Congenita, Autosomal Recessive 6: Understanding Genetic Testing
Telomere biology disorders include DCAR6, where an OFD1 missense mutation has been reported; monitoring covers bone marrow failure, lung problems and cancer risk.
Decoding Dystonia 27: The Role of Genetic Testing in Diagnosis and Management
Twisting postures and repetitive movements often begin in childhood here; DNA analysis confirms the subtype and informs treatment planning and counseling for families.