Polycythemia Vera: Understanding Inherited and Somatic Mutations behind This Rare Blood Disorder
Polycythemia vera: See how your genetics and environment contribute to this rare blood disorder. Understand the causes, risks, and role of inheritance.
Genetic Disorders
Carnitine: Genetic Variants Affecting Mitochondrial Energy and Health
Learn how carnitine powers cellular energy, supports organ health, and influences metabolism. Discover its benefits for brain, liver and immune function, plus how genetics affect your carnitine needs.
Building Up Iron: Hemochromatosis Mutations
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 Deficiency – Mitochondrial Dysfunction and Lactate Production
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: A Genetic Disorder Causing High Bilirubin
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.
Top 11 Genes to Check in Your Genetic Raw Data
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 and FMR1 Premutation Carriers
Fragile X syndrome comes from an FMR1 repeat expansion. What full mutations and premutations mean, and why typical raw data can’t measure it.
Malignant Hyperthermia: RYR1 Gene Mutations and Anesthesia
Malignant hyperthermia is a life-threatening reaction to certain anesthetics. What RYR1 variants mean and what to talk to your anesthesiologist about.
Primary Sclerosing Cholangitis
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.
TTR gene: Amyloidosis, Cardiomyopathy, hATTR CM
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.
Phenylalanine and Phenylketonuria: Mutations, Carrier Impact
Phenylketonuria, also called PKU, is a genetic metabolic disorder that can cause neurological issues if left untreated.
Trimethylaminuria: FMO3 mutations that cause malodorous body odor
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.
Cystic Fibrosis: How to check to see if you are a carrier of a CFTR mutation
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)
Alpha-1 Antitrypsin Deficiency: Genetic Raw Data, Carrier Effects, Interactions with TNF
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.
Mutations common in Ashkenazi Jewish populations
A list of the common Ashkenazi Jewish mutations that can be determined from 23andMe and AncestryDNA raw genetic data files.
Checking Your Carrier Status for Rare Genetic Diseases
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)