Decoding Developmental and Epileptic Encephalopathy 94: The Role of Genetic Testing
Once a mutation is identified in DEE94, care can start sooner and combine medication, physical therapy and educational support tailored to the child's needs.
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 the Heart: Understanding Dilated Cardiomyopathy 1JJ Through Genetic Testing
Carrying a pathogenic variant for DCM 1JJ can be known before symptoms appear, allowing closer monitoring of heart health and testing of relatives who may share it.
Decoding Dilated Cardiomyopathy 1KK: The Role of Genetic Testing in Unraveling Heart Mysteries
Chamber enlargement with impaired contraction characterizes DCM 1KK, an often inherited form whose variants inform screening of relatives and drug development work.
Decoding Distal Arthrogryposis Type 5D: The Role of Genetic Testing in Understanding and Managing This Rare Disorder
Congenital contractures of the hands and feet define DA5D, and compound heterozygous ECEL1 variants were identified as the cause in one affected family.
Deciphering Dowling-Degos Disease 2: Genetic Testing's Role in Understanding a Rare Skin Disorder
Reticulated hyperpigmentation in the armpits, neck and groin defines this rare skin disorder, traced to PSENEN and NCSTN mutations in the Notch signaling pathway.
Decoding the Mysteries of Dyschromatosis Universalis Hereditaria 3: The Role of Genetic Testing
Mixed hyperpigmented and hypopigmented macules that can spread from early childhood, including to the palms, define this autosomal dominant pigmentation disorder.
Decoding Dyskeratosis Congenita: The Role of Genetic Testing in Autosomal Recessive Type 5
Because both parents must carry the mutated gene, carrier screening matters here; telomere defects, an OFD1 finding and prenatal testing options are set out.
Decoding Dystonia 24: The Role of Genetic Testing in Unraveling the Mystery
GNAO1 variants are linked to this form; one reported case of dystonic cerebral palsy responded to levodopa, showing how a genetic result can steer treatment.