A couple of common mutations can cause you to build up iron, leading to iron overload or hemochromatosis. It is one genetic disease where knowledge is really powerful – you can completely prevent hemochromatosis through blood donations.
Pyruvate Dehydrogenase is central to cellular energy production. Learn about its role in energy production, genetic mutations, association with ME/CFS and Long Covid, and strategies to manage its deficiencies.
Gilbert’s syndrome is an inherited condition where the body doesn’t break down bilirubin efficiently. Discover the benefits of higher bilirubin levels in this syndrome and some possible risks.
Wondering what is important in your raw genetic data? Check out this list of 10 genes in your 23andMe or AncestryDNA data.
Fragile X Syndrome is a genetic disorder that can cause changes in a person’s ability to learn and causes alterations in behavior. It is caused by mutations in the FMR1 gene.
Malignant hyperthermia is a serious reaction to inhaled anesthetics caused by rare mutations in the RYR1 gene.
Primary sclerosing cholangitis (PSC) is a life-altering condition that damages the bile ducts, thus impacting the liver. Learn about the research and heritability of this disabling disease.
New research shows that hereditary transthyretin amyloidosis (hATTR) may be more common, especially in people of African ancestry. Understand your genetic risk before irreversible damage.
Phenylketonuria, also called PKU, is a genetic metabolic disorder that can cause neurological issues if left untreated.
Often referred to as ‘fish odor disease’, trimethylaminuria causes a strong odor in sweat, urine, and breath. This article explores the FMO3 gene, which encodes the enzyme that breaks down trimethylamine.
Being a carrier of a cystic fibrosis mutation increases the risk of several diseases including pneumonia from respiratory viruses, pancreatitis, and male infertility. (Member’s article)
A genetic mutation in the SERPINA1 gene causes alpha-1 antitrypsin deficiency. This increases a person’s susceptibility to COPD (chronic obstructive pulmonary disease) and, in some cases, cirrhosis of the liver. Knowing that you carry this mutation can be a great incentive to avoid smoking and to be kind to your liver.
A list of the common Ashkenazi Jewish mutations that can be determined from 23andMe and AncestryDNA raw genetic data files.
The term “carrier status” when applied to a genetic disease usually means looking at whether or not you are heterozygous (have one copy) for a mutation that causes a Mendelian genetic disease. While genetic information from 23andMe or a similar DNA test is generally accurate, always re-confirm with a clinical test before making a major health decision. Your results on these variants could be a false positive or a false negative. (Member’s article)