Cystic kidney diseases, when broadly defined, have a wide differential diagnosis extending
from recessive diseases with a prenatal or pediatric diagnosis, to the most common …

Obesity-related ciliopathies, as a group of ciliopathies including Alström Syndrome and
Bardet–Biedl Syndrome, exhibit distinct genetic and phenotypic variability. The …

Cell therapy offers hope, but it also presents challenges, most particularly the limited ability
of human organs and tissues to regenerate. Since many diseases are associated with …

Cilia are cellular signaling hubs. Given that human kinases are central regulators of
signaling, it is not surprising that kinases are key players in cilia biology. In fact, many …

Introduction: Pediatric cystic kidney disease (CyKD) includes conditions characterized by
renal cysts. Despite extensive research in this field, there are no reliable genetics or other …

Renal cysts are often regarded as the most common abnormality associated with kidney
disease (1, 2). They are encountered in both adults and children, as isolated findings or as …

Background/aim: Autosomal recessive polycystic kidney disease is an inherited kidney
disease. This study aims to detect rare and common DNA variants of the PKHD1 gene using …

Managing rare genetic diseases with organ centric focus presents a challenge in linking
genotypes to phenotypic traits. Ayurveda on the other hand, diagnose diseases with …

The R2TP chaperone complex, consisting of the AAA+ ATPases RUVBL1 and RUVBL2
along with RPAP3 and PIH1D1 proteins, acts as a chaperone responsible for assembling …

Part I Established in 2015 and based at The Royal Brompton Hospital, the Clinical Genetics
and Genomics Laboratory (CGGL) offers diagnostic genetic testing for families and …