PLA2G6-associated Neurodegeneration: Unlocking Mysteries with Genetic Testing
Movement disorders, cognitive decline and psychiatric symptoms mark PLAN, an inherited condition within the NBIA group caused by mutations in the PLA2G6 gene.
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
Understanding Polymerase Proofreading-Related Adenomatous Polyposis: The Role of Genetic Testing
Mutations in the proofreading domains of POLE and POLD1 drive adenomatous polyps that can progress to colorectal cancer, and PPAP overlaps Lynch syndrome and FAP.
Pioneering Paths: Genetic Testing in Pseudo-TORCH Syndrome 2
Microcephaly, developmental delay and seizures mimic congenital infection, yet USP18 mutations, not a virus, lie behind this syndrome, which testing can identify.
Pioneering Pathways: Genetic Testing in Pseudohypoaldosteronism
When the body cannot respond to aldosterone, sodium is lost and potassium builds up; NR3C2, SCNN1A, SCNN1B and SCNN1G results separate renal from systemic PHA1.
Pioneering Pathways: Genetic Testing for PURA-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Profound muscle weakness, seizures and encephalopathy appear soon after birth when the PURA gene is altered, and confirming it opens the way to early therapy.
Decoding Pure or Complex Autosomal Recessive Spastic Paraplegia: The Role of Genetic Testing
Progressive stiffness and weakness in the legs define ARHSP, with more than 70 genes implicated; testing separates pure from complex forms and clarifies inheritance.
Peering into Pyridoxine-Dependent Epilepsy: Unraveling the ALDH7A1 Mutation
Seizures that resist standard antiepileptic drugs but improve with vitamin B6 point to ALDH7A1 mutations, which raise toxic metabolites such as alpha-AASA.
Revealing Radioulnar Synostosis: The Role of Genetic Testing in Unveiling Hidden Hereditary Mysteries
Fusion of the radius and ulna limits forearm rotation and is often noticed when a child struggles to turn a doorknob. Genetic testing can confirm the diagnosis.