Plus, Turba Labs aims to optimize AI infrastructure; regulators propose new crypto rules ...

Researchers report the first known case of Cohen–Gibson syndrome caused by a mosaic EED variant, expanding the mutational ...

Mayo Clinic researchers report encouraging early results from an experimental therapy targeting the genetic cause of a rare ...

A major analysis suggests Phelan-McDermid syndrome, a genetic disorder closely linked to autism, may affect about 1 in 7,300 ...

The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic ...

Myelodysplastic syndromes (MDS) are a group of disorders that typically arise in adulthood, especially after the age of 70, and their five-year survival rate is around 30%. MDS are characterized by ...

The Florida Institute for Pediatric Rare Diseases (IPRD) at Florida State University has enrolled its first families in the ...

Children with rare genetic disorders often face years of uncertainty before receiving a diagnosis, leaving families without clear information about disease progression, treatment options, prognosis, ...

A Mumbai family is grappling with Von Hippel-Lindau syndrome, a rare genetic disorder causing recurring tumours. KEM Hospital ...

Kamal's family has been affected by Von Hippel-Lindau syndrome, leading to multiple tumors. Recently, urban enthusiasts have ...

Next door is the newborn screening laboratory. This is where the Delhi government’s free screening programme for newborns, ...