Arthrogryposis Multiplex Congenita: Genetic Insights for Improved Outcomes
Explore arthrogryposis multiplex congenita, its causes, and how genetic testing aids in diagnosing, personalizing treatment, and guiding family planning.
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
Atypical Coarctation of Aorta: Unveiling the Genetic Blueprint
Segmental narrowing of the aorta, also called middle aortic coarctation, can raise blood pressure sharply. Genetic testing may point to hereditary patterns.
Advancements in Understanding Atypical Hemolytic-Uremic Syndrome: Genetic Testing as a Diagnostic Tool
Hemolytic anemia, acute renal failure and thrombocytopenia form the triad of aHUS, which is tied to faults in the complement system rather than to E. coli infection.
Autosomal Dominant Distal Hereditary Motor Neuropathy: Unraveling Genetic Mysteries
Weakness and wasting in the hands and feet can begin in adolescence or adulthood. A recurrent WARS mutation, affecting tryptophanyl-tRNA synthetase, is one cause.
Addressing Autosomal Dominant Non-Syndromic Intellectual Disability: The Role of Genetic Testing
Cognitive impairment without physical or developmental anomalies makes ADNSID hard to diagnose. Whole exome sequencing found a de novo ZBTB18 variant behind it.
Advancing Understanding: Genetic Testing for Autosomal Dominant Rhegmatogenous Retinal Detachment
Fluid seeping through a retinal tear lifts the retina and can cost sight permanently. In the autosomal dominant form, carriers can be monitored more closely.
Advancing Understanding: Genetic Testing for Autosomal Recessive Cerebellar Ataxia
Balance, coordination and speech decline as the cerebellum is affected in ARCA. Long-read sequencing detects repeat expansions that short-read methods can miss.
Unraveling the Mysteries of Autosomal Recessive Complex Spastic Paraplegia: A Genetic Testing Perspective
Leg stiffness and weakness, mental impairment and a thin corpus callosum define ARCSP, which a study in a Tunisian family traced to the SPG46 locus.