"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

Rare genetic diseases such as ataxia telangiectasia and cystic fibrosis lack strong commercial incentives, prompting ...

In many countries, newborn screening programmes test babies for certain inherited conditions shortly after birth.

[2] A rare, inherited neurodegenerative disorder in infants and young children caused by a gene mutation causing progressive nerve cell damage and destruction. [3] Newborn conditions fall into five ...

EADaily, March 2nd, 2026. Tomsk geneticists summed up the results of a large-scale three-year study covering the Siberian ...

An autoimmune disorder that affects the thyroid gland, called autoimmune hypothyroidism (AIHT), is the most common autoimmune ...

Noncancerous blood disorders are conditions that affect blood cells, such as red blood cells, white blood cells, and platelets. Blood disorders may cause symptoms and complications, but most are ...

In India, rare diseases are not so rare. It is estimated that around 70 million Indians live with one of more than 7,000 rare ...

— The genetic roots of a disease or disorder do not always grow into clear cut, easily diagnosed clinical features. Even if a parent and child have the same genetic marker implicated in an outcome, ...

People understand that someone can be predisposed to mental illness by inheriting certain genes or gene variants, but new research is revealing that inherited mental illnesses are also promoted by ...