Sickle Cell disease is an autosomal recessive disorder that causes anemia, joint pain, a swollen spleen, and frequent, severe infections. It illustrates balanced polymorphism because carriers are ...

Wilson's disease is a rare genetic disorder where the body cannot properly eliminate excess copper, causing it to build up in ...

Autosomal dominant single-gene diseases occur ... Therefore, females with an X chromosome-linked recessive disease inherit one copy of the mutant gene from an affected father and the second ...

In genetics terms, sickle-cell anemia is an autosomal recessive disease, which means that an affected individual has inherited a defective hemoglobin gene from both parents, so every one of his or ...

In these instances, patients inherit the disease in an autosomal recessive manner, meaning they must inherit two copies of the mutated FMO3 gene — one from each parent — to develop the condition.

Autosomal dominant polycystic kidney disease rates in the Military Health System are comparable to the general population, ...

Increased adoption of expanded carrier screening, improved access to cutting-edge DNA sequencing, and rising demand for early genetic disease detection are reshaping the global carrier screening ...

THE REVISED EASL-ERN Clinical Practice Guidelines on Wilson’s disease offer a comprehensive update on the diagnosis, ...

Parkinson disease (PD) is the primary and most common ... Similar to the caveats with the testing of autosomal recessive genes, it is strongly recommended that LRRK2 testing be performed only ...

While autosomal dominant forms of ... This study is the first to uncover a strong recessive component in Alzheimer's disease. The very high risk in R47H homozygotes underscores the necessity ...

(2:41) Researchers recently set out to learn which factors predict rapid decline in patients with autosomal dominant polycystic kidney disease (ADPKD), and how this information could help ...