Decoding the Mystery of SCID due to ADA Deficiency: Delayed Onset Unveiled
Residual adenosine deaminase activity can delay symptoms into later childhood or adulthood. Enzyme assays, metabolite screens and ADA gene testing confirm 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
Decoding SCN2A-related Generalized Epilepsy with Febrile Seizures Plus: A Comprehensive Guide
Febrile and afebrile seizures, often starting before six months with a family history of epilepsy, point toward this spectrum disorder of a brain sodium channel gene.
Nijmegen Breakage Syndrome: Signs, NHEJ1 and Inheritance
Microcephaly, recurrent infections and a raised risk of lymphoma mark this autosomal recessive condition, caused by NHEJ1 variants that carrier testing can detect.
SH3TC2-Related Disorders and CMT4C: Testing and Care
Peripheral nerve function depends on SH3TC2, and variants cause CMT4C and related neuropathies with muscle weakness, sensory loss and foot deformities.
Skeletal Muscle Glycogen QTL: PHKG1, ACSL1 and PRKAG3
PHKG1, ACSL1 and PRKAG3 variants influence muscle glycogen content and meat quality, and testing for them is aimed at animal breeding and management decisions.
Somatostatin Analog Resistance in Neuroendocrine Tumors
When neuroendocrine tumors stop responding to somatostatin analogs, receptor expression and signaling pathways often change, and tumor testing can track that shift.
Decoding the Enigma: Understanding Sporadic Abdominal Aortic Aneurysm Through Genetic Testing
Enlargement of the aorta can develop without any family history; research cited here links sporadic abdominal aortic aneurysm to 24 genetic loci.
Sulfate Transporter-Related Osteochondrodysplasia Testing
Faulty sulfate transport disturbs cartilage and bone growth in this rare osteochondrodysplasia, causing short stature and joint pain; testing can confirm the mutation.