Neurodegeneration: Mechanisms, Diagnosis and Genetic Tests
Oxidative stress and impaired proteostasis damage neurons; single-gene tests for APP, PSEN1 and PSEN2, gene panels, exome and genome sequencing are compared.
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, Diagnosing, and Using Genetic Testing for Neurofibromatosis, Type 2
Loss of merlin lets Schwann cells grow unchecked into vestibular schwannomas, causing hearing loss and balance trouble; MRI and NF2 gene testing confirm the disorder.
Understanding, Diagnosing, and Using Genetic Testing for Nonpersistence of Intestinal Lactase
Lactase production falls after weaning, so dairy brings bloating, diarrhea and abdominal pain; breath, blood and stool tests and the LCT C/T-13910 variant identify it.
Understanding, Diagnosing, and Using Genetic Testing for Orthostatic Hypotension
A drop of at least 20 mm Hg systolic or 10 mm Hg diastolic within three minutes of standing defines OH, which brings dizziness, blurred vision and fainting risk.
Hip Osteoarthritis: Diagnosis and Genetic Risk Factors
Cartilage breakdown in the hip joint brings pain, stiffness and reduced range of motion; the page covers X-ray and MRI diagnosis and what genetic markers may add.
Understanding, Diagnosing, and Using Genetic Testing for Ovarian Serous Cystadenocarcinoma
Ovarian serous cystadenocarcinoma is a type of epithelial ovarian cancer that originates in the cells lining the ovaries.
Understanding, Diagnosing, and Using Genetic Testing for Pancreatic Adenocarcinoma
Jaundice, weight loss and abdominal pain usually appear late. NCCN guidelines recommend genetic screening for every patient, covering BRCA1, BRCA2 and PALB2 mutations.
Understanding, Diagnosing, and Using Genetic Testing for Parathyroid Gland Adenoma
Excess parathyroid hormone raises blood calcium, bringing fatigue, kidney stones and bone pain; blood tests, sestamibi scans and MEN1 analysis shape the work-up.