Severe Combined Immunodeficiency Due to CORO1A Deficiency: A Genetic Testing Perspective
Faulty CORO1A blocks T-cell and B-cell development and leaves repeated infections; identifying the mutation supports earlier treatment and family counseling.
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
Shedding Light on Severe Congenital Hypochromic Anemia with Ringed Sideroblasts: The Role of Genetic Testing
Explore the genetic factors behind severe congenital hypochromic anemia with ringed sideroblasts and learn how genetic testing aids in diagnosis and personalized treatment.
Severe Intellectual Disability-Strabismus-Long Fingers
Limited language, crossed eyes, a grimacing expression and unusually long fingers accompany the intellectual disability here, and DNA analysis can end the search.
Severe Intellectual Disability-Progressive Spastic Diplegia
Motor and speech delays arrive with hypotonia, spasticity, microcephaly and facial differences; pinpointing the mutation supports early therapy and family planning.
Smith-McCort Dysplasia 2: Unveiling the Genetic Mysteries of a Rare Skeletal Disorder
RAB33B mutations underlie SMC2, and four novel nonsense variants found in seven patients widen the genetic picture used for diagnosis and family counseling.
Spermatogenic Failure 11: X-Chromosome SNPs in Infertility
X-chromosome anomalies disrupt sperm cell development in SPGF11, and SNP analysis across ethnic groups has been used to trace the genetic variation involved.
Spotlight on Spermatogenic Failure 12: Unraveling the Genetic Mysteries of Male Infertility
Whole exome sequencing reads the protein-coding part of the genome, where most known disease-causing mutations sit, to find the variants behind SPGF12 infertility.
Unraveling Steel Syndrome: The Promise of Genetic Testing in Diagnosis and Management
Explore the role of genetic testing in diagnosing Steel syndrome, personalizing treatment, and guiding family planning, enhancing life quality and medical outcomes.