BENGALURU: Awareness about rare diseases can sometimes prevent serious conditions from being overlooked. One such condition ...

B, a transcription factor, is essential for maintaining X chromosome inactivation in T cells, connecting immune activation to ...

London hospital opens Europe’s first children’s clinic for rare genetic condition - Centre at the Evelina Children’s Hospital ...

Researchers have found that motor delay and low muscle tone were common signs of an underlying genetic diagnosis in children with neurodevelopment disorders.

Opinion: An upcoming FDA ad comm on a treatment for the ultra rare Barth syndrome can’t use the normal measuring sticks for ...

Inaccurate naming of genetic diseases is resulting in some rare genetic diseases needlessly being undiagnosed, University of ...

Researchers identified key clinical factors like motor delays and hypotonia that predict genetic diagnoses in children with ...

The Fragile X Society said there is a ‘surprising lack of awareness’ around the most common genetic cause of learning ...

At 3 1/2 years old, she was diagnosed with a chromosome disorder known as 17Q12 microdeletion syndrome. According to the National Library of Medicine, the lack of chromosome No. 17 can mean ...

Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and ...

Taysha Gene Therapies' TSHA-102 shows promise for Rett syndrome with miRARE technology. Read why I reiterate my Buy rating ...

In recent years, it’s been estimated that 10% to 28% of patients with myeloid disorders develop adult onset inflammatory and ...