Decoding Developmental and Epileptic Encephalopathy, 47: The Role of Genetic Testing
Genotype-phenotype correlations are used in DEE47 to anticipate progression, choose among medications and weigh preimplantation genetic diagnosis with IVF.
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, 48: The Role of Genetic Testing
Several different genes can produce DEE48, so results are matched to symptoms before choosing antiepileptic drugs or assessing recurrence risk in a family.
Decoding Developmental and Epileptic Encephalopathy, 49: Genetic Testing's Role
Families facing DEE49 can use a genetic result to anticipate the course of the disorder, weigh antiepileptic options and judge risk in future pregnancies.
Understanding Developmental and Epileptic Encephalopathy, 51: The Promise of Genetic Testing
Linking a specific mutation to symptom severity shapes DEE51 care, from prognosis and drug selection to recurrence-risk counseling for future pregnancies.
Decoding Dias-Logan Syndrome: The Role of Genetic Testing in Modern Medicine
Changes in the BCL11A gene affect central nervous system development and can cause developmental delays, intellectual disability and distinctive facial features.
Decoding Duane Retraction Syndrome 3 with or without Deafness: The Role of Genetic Testing
Type 3 limits both adduction and abduction and can come with hearing loss; HOXA1 mutations were studied but found not to be a common cause of the Duane anomaly.
Decoding Dystonia 28: The Role of Genetic Testing in Childhood-Onset Cases
Muscle rigidity, twisting movements and sustained postures mark this childhood form; a study of 19 Indian families reported 23 variants used in diagnosis and counseling.
Decoding Dystonia: Understanding Childhood-Onset with Optic Atrophy and Basal Ganglia Abnormalities
Vision loss from optic atrophy, basal ganglia changes and muscle contractions appear together early in life; whole exome sequencing found MECR mutations in one child.