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

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 ...

In this case we call it a 'hidden genetic defect' (in scientific terms: an autosomal recessive gene). Such a hidden genetic defect can cause problems if a child inherits the same hidden defect, the ...

Chronic kidney disease (CKD) is a public health challenge that affects more than 800 million people worldwide. 1 CKD can be caused by a variety of disease processes. Many causes are difficult to ...

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 ...

What nephrologists and obstetrician-gynecologists should know when caring for pregnant patients with Alport syndrome.

A research group led by Professor Hannes Lohi at the University of Helsinki and Folkhälsan Research Center has uncovered a new skeletal disease in dogs. The disease was recognized in the Karelian Bear ...

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 ...

Data from this Australian study showed a higher prevalence of intracranial aneurysms (ICAs) in patients with ADPKD compared with the general population. Many patients in the study had no known risk ...

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 ...