Gaucher disease is a rare inherited disorder in which fatty substances accumulate inside certain cells, gradually damaging organs such as the spleen, liver and bones. The condition occurs due to a ...

Adrenal insufficiency encompasses a spectrum of disorders in which the adrenal glands fail to produce adequate amounts of steroid hormones, notably glucocorticoids and, in some cases, ...

Gaucher disease, a rare genetic disorder, often goes undiagnosed due to symptoms mimicking common ailments. Affecting the spleen, liver, and bones, it's also linked to an increased risk of Parkinson's ...

Shane DiGiovanna was born with epidermolysis bullosa, or EB, a condition he said is described as "the worst disease you’ve ...

Despite modern high-throughput sequencing, the genetic cause of most rare movement disorders remains unclear. A research team ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life.

Right now, approximately 20 billion red blood cells are busy traveling through your blood vessels. They are delivering oxygen to all the different tissues in your body and removing carbon dioxide to ...

If you haven’t heard of the genetic disorder Heterotaxy, a new children’s book released by a Connecticut teacher and her ...