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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.

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.

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.

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)

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

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

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)