Fanconi Anemia Complementation Group L: Unraveling the Genetic Threads
Bone marrow failure, physical abnormalities and cancer risk mark group L, where FANCL mutations break the pathway that repairs DNA interstrand crosslinks.
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
Genetic Testing: A New Frontier in Understanding Focal Segmental Glomerulosclerosis 6
Telling hereditary FSGS 6 apart from sporadic disease changes how it is treated; genetic profiling also informs counseling, though not every mutation is detectable.
Genetic Insights: Understanding Geleophysic Dysplasia 2
Joint limitations and a broad nose can be mistaken for Weill-Marchesani syndrome, but a homozygous ADAMTSL2 variant identifies GD2 and guides genetic counseling.
Genetic Insights into Glutathione Peroxidase Deficiency: A Pathway to Personalized Health
Cells lose some protection against oxidative damage when glutathione peroxidase genes are altered, leaving greater vulnerability to infections and hemolytic anemia.
Genetic Insights into Glycogen Storage Disease Due to Lactate Dehydrogenase H-Subunit Deficiency
Uncover how genetic testing aids in diagnosing LDH-B deficiency, a rare glycogen storage disease. Learn about symptoms, treatment guidance, and genetic counseling.
Genetic Insights into Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 3
Recurrent infections and granulomas follow defects in the NADPH oxidase complex; identifying the mutation confirms the cytochrome b-positive form of CGD.
Harnessing Genetic Insights: Understanding Heme Oxygenase 1 Deficiency
Mutations in HMOX1 leave the HO-1 enzyme unable to break heme down, which can bring anemia, liver dysfunction and greater vulnerability to infection.
Harnessing Genetic Testing: A Deeper Dive into Hemoglobin H Disease
Losing three of the four alpha-globin genes produces this form of alpha-thalassemia; pinpointing the mutations shapes transfusion and iron chelation decisions.