Deciphering Dopa-Responsive Dystonia: The Role of Genetic Testing
Childhood muscle contractions and tremors that respond to levodopa are linked to the GCH1 gene, where a novel missense mutation was found in the Chinese Han group.
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
Dyskeratosis Congenita: Unraveling the Genetic Threads of a Rare Disorder
Oral leukoplakia, nail dystrophy and skin pigmentation changes come from faulty telomere maintenance, with DKC1, TERC, TERT and newly reported ZCCHC8 mutations.
Early Myoclonic Encephalopathy: Unraveling the Genetic Code for Better Diagnosis
Frequent myoclonic seizures beginning in the first months of life are often tied to three genes, and the variant found can shape which medication is tried first.
Exploring Genetic Insights into Early-Onset Autosomal Dominant Alzheimer Disease
Inheriting one copy of a mutation from an affected parent can bring symptoms in the 30s or 40s; APP triplication on chromosome 21, PSEN1 and PSEN2 are covered here.
Genomic Glimpses: Understanding Ehlers-Danlos Syndrome, Kyphoscoliotic Type 1 Through Genetic Testing
PLOD1 mutations leave lysyl hydroxylase activity deficient and collagen affected, producing severe scoliosis and joint hypermobility in this recessive form.
Epilepsy Syndrome: Unraveling the Genetic Tapestry
A spectrum rather than one disorder, epilepsy syndrome has causes ranging from brain injury to SMC1A variants seen in Cornelia de Lange syndrome.
Facial Cleft: Unraveling the Genetic Threads of a Complex Condition
Cleft lip and cleft palate form when the lip or palate fails to close during fetal development; syndromic and non-syndromic types and genetic risk assessment are covered.
Familial Hemophagocytic Lymphohistiocytosis: Diagnosis
Two faulty copies of an immune-regulating gene leave T cells and macrophages overactive, causing persistent fever, enlarged liver and spleen, and low blood counts.