Fifth-class students at St Matthew's National School, Ballymahon recently marked Rare Disease Awareness Day by showing solidarity and support for one their class-mates.

A 17-year-old boy with a rare condition has spent more than five months in hospital because there is no long-term care placement available for him.

To help children like Adley, you can donate to Arkansas Children’s Northwest’s “Champion for Children Giveathon” on the ...

Jakob Tindle has a very rare condition called distil 5-Q deletion syndrome. The 17-year-old has been at Rotorua Hospital for more than five months - as he's become unpredictable and a danger to the ...

A disabled teenager with the developmental age of a 13-month-old Rotorua Hospital for more than five months after his mother had “nowhere else to turn” for ...

Integration of genomic research yields targeted surgical intervention and personalized care program for a young patient ...

A local mother and son will soon embark on one of the most exhilarating experiences of their lives – all in the good name of ...

Objective: 3p deletion syndrome is a rare monosomal disease that encompasses deletions throughout the short arm of chromosome 3. It is often in the distal region (3p25-pter), but variations in ...

What Is 22q11.2 Deletion Syndrome (DiGeorge Syndrome)? 22q11.2 deletion syndrome is a genetic condition that some babies are born with. A genetic condition happens when there is a problem with a part ...

Harmony Biosciences has paused a mid-stage trial of ZYN002 in 22q11.2 deletion syndrome after the THC-free cannabinoid drug failed to significantly improve social avoidance in a late-stage study in ...