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

Families underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used ...

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 ...

AAVB-039 addresses the root cause of the disease, benefitting patients with any ABCA4 mutation AAVB-039 is currently being assessed in the ...

JCR and MEDIPAL announced that the Ministry of Health, Labour and Welfare of Japan has granted orphan drug designation to ...

Sickle cell disease advocates in East Texas say raising awareness and expanding education are critical steps toward improving ...

Washington, DC -- New research has uncovered a process that is defective in patients with autosomal dominant polycystic kidney disease, a common cause of kidney failure. The findings, which appear in ...

Causes: Butterfly disease refers to a group of rare, inherited diseases that cause the skin to be very fragile and to blister ...

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 ...

A gene defect identified in Karelian Bear Dogs causes a severe bone disease. A gene test has been developed for diagnostic and breeding purposes. A research group led by Professor Hannes Lohi at the ...

Niemann-Pick disease is a rare genetic medical condition. There are four variants of this disease, categorized as type A, type B, type C, and type D. Niemann-Pick disease causes a variety of medical ...

A gene defect identified in Karelian Bear Dogs causes a severe bone disease. A gene test has been developed for diagnostic and breeding purposes. A research group led by Professor Hannes Lohi at the ...