Understanding Holoprosencephaly Sequence: The Role of Genetic Testing
Forebrain and midface development stops short in this condition, which has also been linked to trisomy 13 and to deletions on chromosome 7q.
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
Harnessing Genetic Insights: Understanding Hypertrophic Cardiomyopathy 26
Sudden death events were more frequent in genotype-positive HCM26 patients than genotype-negative ones in one study, which bears on ICD decisions.
Harnessing Genetic Testing for Hyperuricemic Nephropathy, Familial Juvenile Type 4
Faulty uromodulin made from UMOD mutations damages the kidneys and impairs uric acid excretion, usually surfacing in childhood or adolescence.
Harnessing Genetic Insights: Understanding Hypotonia, Ataxia, and Delayed Development Syndrome
Explore the connection between EBF3 gene mutations and the low muscle tone, ataxia, and developmental delay associated with HADDS.
Illuminating Ichthyosis: Understanding Congenital Autosomal Recessive 12 through Genetic Testing
Scales build up when skin cannot shed dead cells; next-generation sequencing, which found 43 mutations across 12 genes in one study, helps pinpoint this recessive form.
Immunodeficiency 49: Unraveling the Genetic Mysteries Behind a Rare Disorder
Low serum immunoglobulins, autoimmune disease and granulomatous-lymphocytic interstitial lung disease can follow CTLA-4 deficiency, which testing can confirm.
Illuminating Infantile-onset Periodic Fever-Panniculitis-Dermatosis Syndrome: The Promise of Genetic Testing
Periodic fevers, painful skin nodules and joint pain starting in infancy have been tied to an NLRC4 variant that keeps the inflammasome active and raises IL-18 levels.
Investigating Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis: The Role of Genetic Testing
Developmental delay, distinctive facial features and drooping eyelids define IDDDFP; BRPF1 variants studied in a Chinese family show how testing can confirm it.