
Decoding the Genetic Mysteries of Juvenile-Onset Primary Open-Angle Glaucoma
Passed on in an autosomal dominant pattern with a 50% chance to each child, this form has been linked to GLC1A, CYP1B1, T1GR/MYOC and OPTN gene variants.

MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
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).
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.

Passed on in an autosomal dominant pattern with a 50% chance to each child, this form has been linked to GLC1A, CYP1B1, T1GR/MYOC and OPTN gene variants.

Up-regulation of the NALP3 inflammasome and CASP1 cleavage of the glucocorticoid receptor are among the mechanisms described, along with cortisol and hGR gene testing.

Symptoms overlapping with Cushing's syndrome make relative glucocorticoid resistance hard to spot; hGR gene testing and CRLF2 findings in Ph-like ALL are explained.

Glycerol normally leaves fat stores to fuel exercise; when release is impaired, blood glycerol measured around exercise and gene analysis help pin down the cause.

When corticosteroids fail to control GVHD after a stem cell transplant, HLA typing, SNPs and gene expression patterns help gauge risk and point to new targets.

Dozens of genes can cause deafness when mutated, and 44 were found in one cochlear implant cohort. Gene panels, exome and genome sequencing are the methods compared.

Discover the importance of genetic testing in diagnosing and managing Hemoglobin Constant Spring Disease, a rare blood disorder, and learn how new PCR assays improve accuracy.

Point mutations and small insertions or deletions in the alpha-globin gene cause a more severe anemia, with added risk in pregnancy; ARMS assays help identify them.