Innovations in Identifying Immunodeficiency 18: The Role of Genetic Testing
One FNIP1 mutation links weakened immunity with cardiomyopathy, so confirming it early lets care address both the infection risk and the heart muscle disease.
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
Immunodeficiency 19 (ID19): What Genetic Testing Finds
Recurrent infections and autoimmune disorders mark ID19, a rare genetic disorder of the immune system. Genetic testing can pinpoint the mutations and guide treatment.
CVID10: NFKB2 Mutations, Symptoms and Diagnosis
Repeated infections, autoimmune disorders and raised cancer risk follow a mutation in NFKB2, which testing can find in patients and in at-risk relatives.
Illuminating Intellectual Disability, Autosomal Dominant 27: The Promise of Genetic Testing
Clinical assessment alone rarely settles ID-AD 27, so whole exome sequencing is used; it has identified a de novo ZBTB18 variant in reported cases.
Intellectual Disability-Facial Dysmorphism Syndrome Due to SETD5 Haploinsufficiency: Unlocking the Genetic Code
Reduced SETD5 expression disturbs chromatin remodeling and produces intellectual disability with distinctive facial features, hypotonia, feeding difficulties and autism.
Illuminating Insights: Genetic Testing for Intellectual Disability-Feeding Difficulties-Developmental Delay-Microcephaly Syndrome
Developmental delay, feeding difficulties and an unusually small head mark this rare syndrome. A genetic diagnosis guides speech therapy and nutritional support.
Illuminating Intellectual Disability-Hypotonia-Spasticity-Sleep Disorder Syndrome: The Role of Genetic Testing
Reduced muscle tone, muscle stiffness, sleep disturbance and intellectual disability occur together here; a novel NSUN2 variant was found in a Chinese family.
Joubert Syndrome 21: Genetic Testing as a Gateway to Understanding and Managing the Condition
Balance, coordination and intellectual development are affected by this rare disorder; a molecular analysis of 30 families shows how testing confirms a diagnosis.