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WES uncovers mutations for rare paediatric diseases

Using whole-exome sequencing (WES), researchers have identified underlying variants in children with rare genetic paediatric diseases. Rare genetic paediatric diseases […]

Providing Information And Support to Families Affected by Rare Genetic Diseases – Interview with Arti Patel, Unique

Arti Patel is an Information Officer at Unique, where she acts as the first point of contact on the helpline […]

RNA-sequencing of amniotic fluid cells for prenatal diagnosis of rare disorders

A team of researchers from Hong Kong have developed a proof-of-concept RNA-sequencing approach to analyse amniotic fluid to diagnose rare […]

Healthy newborns offered whole genome sequencing to screen treatable rare genetic disorders

Genomics England have partnered with the NHS  to implement the Newborn Genomes Programme. Whole genome sequencing (WGS) will be used […]

A Spotlight On: Rare Disease – Marshall Summar, Director of the Rare Disease Institute at the Children’s National Hospital

Marshall Summar is Director of the Rare Disease Institute at the Children’s National Hospital. He runs the genetics and metabolism […]

Rare cases of high genetic mutation linked to fathers’ chemotherapy

A study published in Nature by scientists from the Wellcome Sanger Institute and elsewhere, indicates that some rare cases of […]

Patient Perspectives: Kay Parkinson, Founder and Company Secretary, Rare Disease Nurse Network

Although Kay Parkinson is officially retired, she volunteers at the Rare Disease Nurse Network where she is the Founder and […]

Rare variants involved in eczema susceptibility

A recent meta-analysis has identified rare exonic variants that play a role in eczema susceptibility. Eczema Eczema is a chronic […]

Patient Perspectives: David Edward Rose – Ultra-Rare Disease Patient Speaker

David Edward Rose works for a rare disease magazine called Rare Revolution Magazine. He is also an ultra-rare disease patient […]

Patient Perspectives: Vaila Morrison – Architect, Mother and Rare Disease Advocate (KAT6A syndrome)

Vaila Morrison is an architect focused on sustainable and inclusive design as well as a mother to a child with […]