Cracking the Code: Understanding and Diagnosing Cleidocranial Dysplasia 2
Absent or underdeveloped collarbones, late-closing fontanelles and dental problems follow RUNX2 mutations passed on in an autosomal dominant pattern.
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
Clopidogrel Efficacy: CYP2C19 Metabolizer Status
Testing sorts people into normal, intermediate and poor metabolizers, shaping whether clopidogrel, ticagrelor or prasugrel is used and how care is monitored.
Unraveling the Mystery: Understanding, Diagnosing, and Using Genetic Testing for Cocaine-Related Disorders
Intoxication, dependence and withdrawal bring effects from euphoria and paranoia to a raised heart rate; assessment and genetic risk markers are described.
Unlocking the Mysteries of Cone-Rod Dystrophy 24: Genetic Testing and Its Implications
Color perception and central vision go first in CRD24 as cones degenerate, with rods and low-light vision following; ERG, OCT and DNA testing confirm the diagnosis.
Understanding, Diagnosing, and Using Genetic Testing for Congenital Heart Defects, Multiple Types, 9
Several defects can occur together in CHD9, from ASD and VSD to tetralogy of Fallot and hypoplastic left heart syndrome. Echocardiography, ECG and DNA testing assess it.
Understanding, Diagnosing, and Using Genetic Testing for Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies
POMGNT1 mutations disturb alpha-dystroglycan and produce the muscle weakness, seizures and vision problems of MEB disease, which passes on in an autosomal recessive way.
Understanding Congenital Myopathy 20: A Comprehensive Guide
Also called MYH7-related myopathy, it brings muscle weakness and developmental delay. EMG and biopsy help, while MYH7 testing supports carrier and prenatal testing.
Unlocking the Mystery of Congenital Myopathy 21: Understanding, Diagnosing, and Genetic Testing
TTN mutations alter titin, weakening skeletal muscle and the muscles used to breathe. Clinical exam, MRI or CT imaging and TTN testing together confirm CM21-ERF.