Understanding, Diagnosing, and Using Genetic Testing for Achondroplasia
An overactive FGFR3 protein slows growth of the long bones, giving short limbs with a normal-sized torso; X-rays, carrier and prenatal testing and PGD are explained.
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
Acrocephalosyndactyly Type I: FGFR2 Gene and Signs
Premature fusion of skull bones and webbed or fused fingers and toes follow FGFR2 mutations in acrocephalosyndactyly type I, also known as Apert syndrome.
Understanding, Diagnosing, and Using Genetic Testing for Acrodysostosis 1 with or without Hormone Resistance
Short stature, brachydactyly and distinctive facial features suggest acrodysostosis 1; X-rays and PRKAR1A or PDE4D testing confirm it and flag hormone resistance.
Understanding, Diagnosing, and Using Genetic Testing for Acrokeratosis Verruciformis of Hopf
Flat-topped, wart-like lesions on the hands and feet mark acrokeratosis verruciformis of Hopf; ATP2A2 testing confirms it when biopsy findings are inconclusive.
Understanding, Diagnosing, and Using Genetic Testing for Acromicric Dysplasia
Bone growth is restricted in acromicric dysplasia, producing short hands and feet and a round face; FBN1 testing confirms it and enables carrier and prenatal testing.
Understanding, Diagnosing, and Using Genetic Testing for Acute Coronary Syndrome
Chest pain from reduced blood flow can mean a heart attack or unstable angina; acute coronary syndrome is assessed with ECG, troponin levels and genetic risk factors.
Understanding, Diagnosing, and Using Genetic Testing for Adams-Oliver Syndrome
AOS is a rare congenital disorder of missing scalp skin (aplasia cutis congenita) and limb defects, linked to ARHGAP31, DOCK6, EOGT and RBPJ gene mutations.
Understanding Adenylosuccinate Lyase Deficiency: Diagnosis and the Role of Genetic Testing
Adenylosuccinate lyase deficiency (ASLD) is a rare metabolic disorder. Learn about its diagnosis, symptoms, and the crucial role of genetic testing in guiding treatment.