Poor Response to Eculizumab: C5 Gene Variants in PNH
Some people treated for paroxysmal nocturnal hemoglobinuria respond poorly to this drug; C5 variants such as c.2654G→A and p.Arg885His have been linked to it.
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
Encephalocardiomyopathy: Mitochondrial Disease Testing
Brain and heart are both affected in this rare mitochondrial disease, where pinpointing the causative mutation can confirm a diagnosis and shape a care plan.
Enhancement of the C-reflex: The Cutaneous Silent Period
The cutaneous silent period becomes more pronounced in this condition, which the page links to circular RNA Cdr1as and to chromosome and mutation analysis.
Cracking the Code of Epidermolysis Bullosa Pruriginosa: Understanding, Diagnosing, and Using Genetic Testing
COL7A1 mutations reduce type VII collagen, producing chronic pruritus and prurigo-like nodules; biopsy, immunofluorescence and gene testing confirm the recessive form.
Decoding Mitochondrial Epilepsy: A Guide to Understanding, Diagnosing, and Genetic Testing
Mutations in nuclear or mitochondrial DNA disrupt the respiratory chain, causing seizures, developmental delays and muscle weakness; how testing confirms it.
Decoding the Mystery of Severe Multiple Epiphyseal Dysplasia 1: Understanding, Diagnosing, and Using Genetic Testing
Joint pain, stiffness and limited motion follow abnormal epiphyseal growth; COMP, COL9A1, MATN3, SLC26A2 and SMOC2 variants are what genetic testing looks for.
Unlocking the Mysteries of Exercise Intolerance and Complex III Deficiency
Energy production falters when mitochondrial complex III is deficient, causing fatigue, muscle pain and breathlessness with activity; DNA testing can trace the mutations.
Exercise Intolerance, Muscle Pain and Lactic Acidemia
Mitochondrial problems leave muscles painful and lactate raised after exertion; blood lactate levels, muscle biopsy and genetic testing all feed into the diagnosis.