Decoding Dystonia 25: Genetic Testing and Its Role in Diagnosis and Treatment
Caused by a change in a single gene, this dystonia is confirmed by naming the variant, which separates it from other movement disorders and shapes therapy choices.
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
Exploring Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2: The Role of Genetic Testing
Skeletal abnormalities and vascular problems add to the hypermobility and tissue fragility of EDS in EDSSPD2, a subtype connected to a THBS2 mutation.
Exploring Genetic Testing for Epidermolysis Bullosa Simplex 3: A Gateway to Understanding BP230 Deficiency
Hemidesmosomes lose the BP230 protein that anchors epidermis to dermis, so skin blisters after minor trauma; testing, care planning and counseling limits are set out.
Exploring Epidermolysis Bullosa Simplex 4: Genetic Testing's Role in Diagnosis and Management
Recessive BPAG1e mutations, among them a homozygous nonsense change, underlie EBS4; testing for diagnosis, management and reproductive planning is weighed here.
Epilepsy, Familial Adult Myoclonic, 4: Unlocking Genetic Mysteries for Better Diagnosis
Non-coding repeat expansions drive this dominantly inherited epilepsy, in which myoclonus and seizures start in adulthood; diagnosis and counseling uses are outlined.
Epileptic Enigmas: Understanding Familial Adult Myoclonic Epilepsy 5
Clinical exams and EEG show epilepsy but not which inherited form it is; for FAME 5, testing confirms the diagnosis, guides medication and informs family planning.
Estrogen Resistance Syndrome: Puberty and Bone Effects
Delayed puberty, infertility and reduced bone density follow when the estrogen receptor gene is altered; testing confirms ERS and informs reproductive planning.
FDILSS: Facial Dysmorphism, Livedo and Short Stature
Distinctive facial features, weakened immunity, livedo and short stature define FDILSS; DNA analysis pinpoints the mutation and informs management and family planning.