MIRAGE Syndrome: Understanding the Genetic Landscape
Explore how genetic testing is transforming the diagnosis and management of MIRAGE syndrome, a rare disorder affecting adrenal function and growth. Early intervention is key.
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
Mitochondrial Mysteries: Understanding DNA Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Reduced mitochondrial DNA damages heart muscle in this cardiomyopathic form, and its autosomal dominant pattern means one copy of the altered gene causes the disorder.
Mapping the Mysteries: Understanding Mitochondrial DNA Depletion Syndrome 15 (Hepatocerebral Type)
Two copies of the altered gene, one from each parent, cause MDDS15, which presents in infancy with developmental delay, seizures, liver dysfunction and failure to thrive.
Mapping the Mystery: Understanding Mucopolysaccharidosis-like Syndrome with Congenital Heart Defects and Hematopoietic Disorders
VPS33A mutations sit behind MPSPS, which pairs features of the mucopolysaccharidoses with congenital heart defects and blood disorders; no specific therapy exists.
Hunter Syndrome (MPS II), Severe Form: IDS Gene Testing
Hunter syndrome affects mainly males, and its severe form begins early and progresses quickly; IDS gene testing supports prenatal or newborn diagnosis and care planning.
Neonatal Intractable Myoclonus: Diagnosis in Newborns
Hard-to-control involuntary muscle jerks in newborns define MIN, and DNA sequencing can shorten a long diagnostic path and inform recurrence risk for families.
Myofibrillar Myopathy 7: Genetic Testing as a Gateway to Understanding and Managing This Rare Disorder
MFM7 breaks down myofibrils, the rod-like units inside muscle cells, causing weakness and atrophy; a novel LDB3 mutation has been reported in recent research.
Myofibrillar Myopathy 8: Symptoms and the LDB3 Gene
Weakness, pain and atrophy of the skeletal muscles progress in MFM8, which has been linked to a novel mutation in LDB3, a gene that organizes muscle cell structure.