Decoding Developmental and Epileptic Encephalopathy, 21: The Role of Genetic Testing
Seizures that begin in infancy and resist conventional drugs mark DEE21; pinpointing the mutation ends diagnostic guesswork and informs reproductive decisions.
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
Deciphering Developmental and Epileptic Encephalopathy, 23: The Role of Genetic Testing
Refractory seizures, cognitive delay and neurological deficits appear in infancy, and identifying the causative mutation helps predict how DEE23 will progress.
Decoding Developmental and Epileptic Encephalopathy, 24: The Role of Genetic Testing
Symptoms overlap with other neurological disorders, so confirming the mutation behind DEE24 avoids misdiagnosis, though variants of uncertain significance remain common.
Decoding Developmental Delay: Understanding Genetic Testing for Autism Spectrum Disorder and Gait Instability
Chromosomal microarray analysis and whole-exome sequencing can find the variant behind delayed milestones, autism spectrum traits and gait instability.
Decoding Diamond-Blackfan Anemia 12: The Role of Genetic Testing
Fatigue, pallor and frequent infections follow the shortfall of red blood cells in DBA12; an RPS7 result guides transfusion and corticosteroid decisions.
Decoding Diffuse Cerebral and Cerebellar Atrophy - Intractable Seizures - Progressive Microcephaly Syndrome: A Genetic Testing Approach
Progressive microcephaly, intractable seizures and brain atrophy define this rare syndrome, where DNA analysis can confirm a diagnosis that imaging alone leaves open.
Decoding Dowling-Degos Disease 4: The Role of Genetic Testing in Unraveling Skin Mysteries
Often underdiagnosed because it resembles other skin conditions, DDD4 causes reticulate hyperpigmentation in flexural areas and involves PSENEN and NCSTN mutations.
Exploring Early-Onset Parkinson Disease 20: The Promise of Genetic Testing
Tremor, rigidity and bradykinesia before age 50 define this form, and de novo mutations in three named genes have been reported as possible contributors.