Understanding, Diagnosing, and Using Genetic Testing for Blepharophimosis
Narrowed eye openings, ptosis and epicanthus inversus show up at or soon after birth. FOXL2 testing separates isolated cases from BPES type I and type II.
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
Understanding, Diagnosing, and Using Genetic Testing for Breast Lobular Carcinoma
Invasive lobular carcinoma grows in single-file lines that mammograms can miss; ultrasound, MRI and biopsy confirm it, while BRCA1 and BRCA2 results shape treatment.
Understanding, Diagnosing, and Using Genetic Testing for Cardiac Arrest
When the heart's electrical system malfunctions, collapse and loss of pulse follow; ECG, imaging and testing for Long QT, Brugada and CPVT help explain the cause.
ICF Syndrome: Centromeric Instability and Immunity
Recurrent infections, facial dysmorphisms and growth retardation point to ICF syndrome; DNMT3B analysis and cytogenetic study of chromosomes 1, 9 and 16 confirm it.
Unraveling Cerebellar Ataxia: Understanding, Diagnosing, and the Role of Genetic Testing
Unsteady gait, poor coordination, slurred speech and nystagmus follow cerebellar damage, which may stem from inherited mutations, stroke, tumors or other causes.
Understanding, Diagnosing, and Utilizing Genetic Testing for Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1
Strokes, migraines and cognitive decline follow NOTCH3 mutations that thicken small brain arteries; MRI white matter changes and a blood test support the diagnosis.
Understanding, Diagnosing, and Using Genetic Testing for Cerebral Cavernous Malformation
Clusters of dilated vessels in the brain or spinal cord may cause headaches, seizures or bleeding; familial cases trace to the CCM1, CCM2 or CCM3 genes.
Unraveling Cerebral Creatine Deficiency Syndrome: Understanding, Diagnosing, and the Role of Genetic Testing
GAMT deficiency, AGAT deficiency and creatine transporter deficiency each disrupt creatine in the brain; MRS, biochemical tests and gene analysis tell the three apart.