BRCA1 and BRCA2 mutations: Interactions with environment, other genetic variants
Women with BRCA1/2 mutations may face additional risk from certain environmental toxins or other genetic variants.
Unusual and Rare
Uncommon and rare mutations can impact your health. Knowing about these can give you a heads-up as to whether you need to talk with your doctor.
Please keep in mind that most direct-to-consumer genetic tests aren’t guaranteed to be clinically accurate. If a rare mutation shows up in your data, there is a possibility that it is a false positive. Before acting on the information, consider doing a second, clinically accurate test to confirm. Talk with your doctor and consider your family health history and current health in deciding whether to pursue further testing to confirm a rare mutation.
Latest articles on Rare Diseases:
Familial Mediterranean Fever: Mimics fibromyalgia, arthritis, inflammation
Familial Mediterranean fever (FMF) is a genetic condition of inflammatory episodes that cause painful joints, pain in the abdomen, or pain in the chest. It is most often accompanied by a fever. FMF is often misdiagnosed as various pain-related conditions such as fibromyalgia, myofascial pain syndrome, or gouty arthritis.
Fragile X Syndrome
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.
Wilson’s disease: ATP7B gene mutations and copper in the brain
Mutations in ATP7B can cause copper dysregulation and Wilson’s disease. People carrying one copy of the mutation may also have subtle changes.
Malignant hyperthermia: RYR1 gene mutations and anesthesia
Malignant hyperthermia is a serious reaction to inhaled anesthetics caused by rare mutations in the RYR1 gene.
Fructose Intolerance: Hereditary or Dietary?
Fructose intolerance can be due to a rare mutation in the ALDOB gene or it can be due to reduced intestinal absorption.
Ehlers Danlos Syndrome: Genes, Types, and Treatments
Ehlers-Danlos Syndromes causes changes in the way that collagen forms in the joints, ligaments, and skin. Explore the research on EDS and the genetic mutations that cause some of the subtypes of the disorder.
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.
Prions: Genetic mutations that increase prion disease risk
Prions are able to infect, causing the normal protein around them to also misfold. These misfolded proteins aggregate to cause neurogenerative disease. Susceptibility to prion diseases depends in part on your genes.
Phenylalanine and Phenylketonuria: Mutations, Carrier Impact
Phenylketonuria, also called PKU, is a genetic metabolic disorder that can cause neurological issues if left untreated.
MSH3 gene: Cancer risk and DNA repair
The MSH3 gene helps protect the body from cancers. Learn more about MSH3 and the possible genetic variants that impact cancer risk.
Genetic risk and Guillain-Barré syndrome
This article dives into the research on Guillain-Barré syndrome, explaining the course of the disease, and covering the genetic variants that increase the relative risk of this serious autoimmune disease.
DEC2 Gene: Short Sleep Mutation
Are you naturally a short sleeper? Mutations in the DEC2 gene decrease the need for sleep.
G6PD Deficiency: How to check your genes
People who carry the genetic mutations that cause G6PD deficiency are at an increased risk for hemolytic anemia when taking quinine-based medications. This article is intended to be a ‘heads up’ for anyone who is considering using quinine or chloroquine without a doctor’s advice for COVID-19.
Cystic Fibrosis: Check to see if you are a carrier
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 other genes
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.
Cancer Prevention Strategies for Lynch Syndrome Mutations
Lynch Syndrome increases the risk of certain cancers. The cause relates to inherited mutations in the genes responsible for stopping the replication of cancerous cells. Learn how cancer occurs, risks involved with this particular syndrome, and prevention strategies to implement for risk reduction
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.
What can I learn on this website?
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. In general, these are the rare genetic diseases that you would need two copies of the mutation in … Read more
Pyruvate Dehydrogenase Deficiency – Mitochondrial dysfunction
Pyruvate dehydrogenase is involved in the production of cellular energy in the mitochondria. People with pyruvate dehydrogenase deficiency have many health effects. Learn more about this deficiency and its genetic mutations.
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)