Cobblestone Lissencephaly: Genetic Testing Illuminates a Path Forward
Explore genetic testing for cobblestone lissencephaly, a neurological disorder. Gain insights on diagnosis, management, and family planning with tailored genetic guidance.
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
Colorectal Cancer, Susceptibility to, 12: Risk and Tests
Rare inherited variants found in unexplained adenomatous polyposis and early-onset colorectal cancer can flag people who need earlier colonoscopy and tailored prevention.
Cracking the Code: Genetic Testing for Combined Oxidative Phosphorylation Defect Type 17
Severe infantile hypertrophic cardiomyopathy, muscular hypotonia, developmental delay and raised serum lactate mark COXPD17, which gene testing can confirm.
Cracking the Code: Understanding Combined Oxidative Phosphorylation Deficiency 19 Through Genetic Testing
Disturbed pre-mRNA splicing from a GTPBP3 mutation underlies COXPD19, where muscle weakness, developmental delay and neurological problems reflect low energy output.
Complex Cortical Dysplasia (CDCBM3): Signs and Testing
Malformed cerebral cortex underlies CDCBM3, a rare disorder with developmental delays, seizures and intellectual disability; testing can identify the variants involved.
Complex Cortical Dysplasia with Other Brain Malformations 4: Unveiling the Genetic Mysteries
Within the group known as malformations of cortical development, CDCBM4 causes seizures and developmental delays, and TUBB gene variants have been linked to it.
Cracking the Code: Understanding Congenital Muscular Dystrophy with Intellectual Disability and Severe Epilepsy
Muscle weakness and hypotonia combine with brain malformations, seizures and intellectual disability here; LAMA2 variants correlate with how motor function progresses.
Congenital Myasthenic Syndrome 8: Unraveling the Genetic Threads
Ptosis, swallowing difficulty and breathing problems are common in CMS8. RAPSN variants differ between populations, so testing is what separates it from lookalikes.