Frontiers of Genetic Testing in Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3
C9orf72 is the most common genetic cause of FTD and ALS; testing can confirm FTD/ALS 3, flag relatives at risk and point to NLRP3 inflammasome research.
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
Frontiers in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis 4: The Role of Genetic Testing
Shared mutations in C9orf72, TARDBP and SOD1 drive protein aggregation in FTD/ALS4, and testing informs risk assessment, treatment choices and counseling.
Glioma Susceptibility 9 Risk, Testing and Diagnosis
For people with a family history of gliomas, genetic markers can inform surveillance, treatment planning and more accurate glioma classification.
Genetic Insights into Glutamate Pyruvate Transaminase 2 Deficiency: A Pathway to Precision Medicine
The GPT2 enzyme drives part of amino acid metabolism, and when it works poorly, developmental delay, neurological problems and metabolic imbalance can result.
Harnessing Genetic Insights: Understanding Hereditary Spastic Paraplegia 73
Reports of a novel CPT1C variant link HSP73 with a relatively benign course, meaning slower progression than in some other hereditary spastic paraplegias.
Hereditary Spastic Paraplegia 74: Unlocking Genetic Mysteries for Better Management
Clinical signs of HSP74 overlap with other neurological conditions, so whole exome sequencing is used to confirm which gene change is responsible before care is planned.
Harnessing Hope: Genetic Testing and Hypomyelinating Leukodystrophy 10
PYCR2 mutations leave the myelin sheath underdeveloped, bringing developmental delay, motor dysfunction and cognitive impairment in this rare leukodystrophy.
Harnessing Hope: Genetic Testing for Hypomyelinating Leukodystrophy 11
White matter forms abnormally when POLR3K, a gene regulating ribosomal RNA, is mutated. Confirming that change supports earlier diagnosis and family counseling.