Decoding the Mysteries of Coenzyme Q10 Deficiency and Spinocerebellar Ataxia Type
COQ4 and COQ8A defects tie CoQ10 shortage to childhood-onset spinocerebellar ataxia. MRI, gene testing, counseling and prenatal options are set out for families.
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
Unlocking the Mysteries of CHIME Syndrome: Understanding, Diagnosing, and Using Genetic Testing
Coloboma, heart defects, ichthyosiform skin, intellectual disability and ear anomalies define CHIME syndrome, which stems from defects in the GPI biosynthesis pathway.
Unlocking the Mysteries of Non-Polyposis Colorectal Cancer: Genetic Testing and Beyond
Hereditary colorectal cancer without widespread polyps divides into Lynch syndrome and other forms; MLH1 methylation, MSI and NTHL1 testing help tell them apart.
Unlocking the Mystery: Understanding, Diagnosing, and Using Genetic Testing for Combined Pituitary Hormone Deficiency
Short stature, delayed puberty, low blood sugar and poor muscle tone can signal CPHD, inherited in dominant or recessive form and treated with hormone replacement.
CDG Type II: N-Glycan Profiling and Counseling
Mass spectrometry of plasma N-glycans can detect abnormal glycan structures in CDG type II, after which gene testing and counseling clarify the subtype and management.
Decoding the Genetic Mysteries of Nonsyndromic Congenital Heart Defects
Exome studies link GDF1, LRP1 and HAND2 to heart defects that occur without a syndrome; testing informs recurrence risk, surgical planning and prenatal decisions.
Decoding the Complexities of Alpha-Dystroglycan Related Congenital Muscular Dystrophy
Impaired glycosylation of alpha-dystroglycan weakens the link between muscle fibers and the matrix around them; biopsy and gene testing, including FKRP, identify it.
Understanding, Diagnosing, and Using Genetic Testing for CHKB-Related Congenital Muscular Dystrophy
Reduced choline kinase activity affects muscle cell membranes in this autosomal recessive CMD; biopsy may show abnormal mitochondria, and CHKB sequencing confirms it.