Decoding COG5-Constitutional Disorder of Glycosylation: The Promise of Genetic Testing
Explore how genetic testing aids in diagnosing COG5-CDG, offering insights for early detection, personalized treatment, and informed family planning strategies.
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
Cracking the Code: Genetic Testing and Combined Oxidative Phosphorylation Defect Type 7
Neurological impairment, muscle weakness and developmental delay follow the energy defect in COXPD7, and carrier testing shows whether parents share the mutation.
Cracking the Code: Genetic Testing and Complement Component 3 Deficiency
Without enough C3 protein, infections with Streptococcus pneumoniae and Neisseria meningitidis recur and autoimmune conditions such as lupus become more likely.
Cracking the Code: Genetic Testing and Complement Component 9 Deficiency
C9 helps build the membrane attack complex that destroys bacteria, so a shortage raises Neisseria infection risk; one study found no added susceptibility to lupus.
Complement Component C1s Deficiency: Unraveling the Genetic Mysteries
Weakened complement defense from C1S gene mutations is linked with lupus; a reported case describes diagnosis by gene testing and treatment with rituximab.
Comprehending Congenital Adrenal Hyperplasia Due to Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia at birth or adrenal insufficiency can both stem from POR gene mutations, the cause of CAH-PORD; testing confirms it and guides hormone therapy.
Understanding Congenital Adrenal Insufficiency with 46, XY Sex Reversal: The Role of Genetic Testing
CYP11A1 mutations block steroid biosynthesis, producing adrenal insufficiency alongside atypical sex development in a 46,XY child; testing guides treatment.
Cracking the Code: Genetic Testing for Congenital Dyserythropoietic Anemia Type 4
Unlock the potential of genetic testing in diagnosing CDA Type 4. Explore its role in detecting mutations, guiding treatments, and managing iron overload effectively.