
Decoding the Genetic Enigma: Understanding Chronic Pancreatitis Susceptibility
Variants in TRPV6 contribute in about 10% of patients, while CPA1 mutations act through endoplasmic reticulum stress, and alcohol, smoking and diet interact with both.

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.

Variants in TRPV6 contribute in about 10% of patients, while CPA1 mutations act through endoplasmic reticulum stress, and alcohol, smoking and diet interact with both.

Bradykinesia, rigidity, tremor and postural instability overlap with other forms of parkinsonism, so analysis of PARK2, PINK1 or DJ-1 helps confirm PD6.

Mutations in the ADA gene reduce an enzyme that clears toxic molecules, leaving the immune system vulnerable; enzyme replacement and cell transplant are options.

The PEX10 gene sits behind this subtype of peroxisome biogenesis disorder, where mutations can bring vision loss, developmental delays and multisystem effects.

Discover the genetic trait of phenylthiocarbamide tasting, its diagnosis, and the role of genetic testing in understanding its health implications and disease connections.

Some people carry an increased likelihood of benign pituitary tumors; testing MEN1, PRKAR1A and AIP can point to MEN1, Carney complex or FIPA and guide monitoring.

An autosomal recessive shortage of plasminogen leaves fibrin clots poorly broken down, with reported complications including pulmonary involvement and Coats' disease.

Genetic changes let the malaria parasite survive antimalarial drugs; studies of crt and mdr1 genes and PvDBP polymorphism track resistance and guide treatment.