Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...

A patient report submitted to the FDA provides insights on living with ARPKD and unmet medical needs. An “ARPKD Therapeutic Development Roadmap” is forthcoming. Current treatments for autosomal ...

In a recent study published in the Journal of Experimental Medicine, researchers identified that individuals with a deficiency of myeloid differentiation primary response 88 (MyD88) and interleukin-1 ...

Organoids - lab grown cells or tissues that resemble organs - serve as a new tool for disease modeling, but researchers often have difficulty replicating the biophysical conditions in which the organs ...

The medical student, who grew up near Chester, said he wants to become a transplant surgeon due to his own experience ...

For the first time researchers from Hebrew University of Jerusalem, Radboudumc, Maastricht UMC+ and international colleagues have gained insight into the "hidden genetic defects" of the general ...

Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...

There are about 20 known “Ashkenazic diseases,” though more are being discovered all the time. Here are diseases that are commonly screened for in Jewish couples who are planning to have children. In ...

Researchers have gained insight into the 'hidden genetic defects' of the general European population. This is important because these defects, if inherited from both father and mother, can lead to all ...