Using whole-exome sequencing (WES), researchers have identified underlying variants in children with rare genetic paediatric diseases. Rare genetic paediatric diseases […]
Arti Patel is an Information Officer at Unique, where she acts as the first point of contact on the helpline […]
A team of researchers from Hong Kong have developed a proof-of-concept RNA-sequencing approach to analyse amniotic fluid to diagnose rare […]
Genomics England have partnered with the NHS to implement the Newborn Genomes Programme. Whole genome sequencing (WGS) will be used […]
Marshall Summar is Director of the Rare Disease Institute at the Children’s National Hospital. He runs the genetics and metabolism […]
A study published in Nature by scientists from the Wellcome Sanger Institute and elsewhere, indicates that some rare cases of […]
Although Kay Parkinson is officially retired, she volunteers at the Rare Disease Nurse Network where she is the Founder and […]
A recent meta-analysis has identified rare exonic variants that play a role in eczema susceptibility. Eczema Eczema is a chronic […]
David Edward Rose works for a rare disease magazine called Rare Revolution Magazine. He is also an ultra-rare disease patient […]
Vaila Morrison is an architect focused on sustainable and inclusive design as well as a mother to a child with […]
