A-Z of Rett Syndrome
BENGALURU: Awareness about rare diseases can sometimes prevent serious conditions from being overlooked. One such condition ...
studyfinds12d
Rare genetic disorders much more common than scientists thought, study reveals
A new study has uncovered a startling revelation: rare genetic disorders caused by repetitive DNA sequences may be up to ...
London hospital opens Europe’s first children’s clinic for rare genetic condition
London hospital opens Europe’s first children’s clinic for rare genetic condition - Centre at the Evelina Children’s Hospital ...
News Medical on MSN1d
Motor delays and hypotonia differentiate neurodevelopmental disease patients with and without genetic diagnoses
Researchers identified key clinical factors like motor delays and hypotonia that predict genetic diagnoses in children with ...
Cutting corners results in rare genetic diseases being undiagnosed, say scientists
Inaccurate naming of genetic diseases is resulting in some rare genetic diseases needlessly being undiagnosed, University of ...
STAT6d
Traditional randomized trials don’t work for ultra-rare diseases like Barth syndrome
Opinion: An upcoming FDA ad comm on a treatment for the ultra rare Barth syndrome can’t use the normal measuring sticks for ...
Science Daily1d
Researchers identify neurodevelopmental symptoms that indicate genetic disorders
Researchers have found that motor delay and low muscle tone were common signs of an underlying genetic diagnosis in children with neurodevelopment disorders.
GPs should test for genetic condition affecting one in 250 women, charity says
The Fragile X Society said there is a ‘surprising lack of awareness’ around the most common genetic cause of learning ...
Taysha Gene Therapies: Unjustified Sell-Off - Enough Cash Runway And Promising Rett Syndrome Data
Taysha Gene Therapies' TSHA-102 shows promise for Rett syndrome with miRARE technology. Read why I reiterate my Buy rating ...
The Fayetteville Observer5d
How a young Fayetteville singer is raising awareness about autism and chromosome disorders
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 ...
The American Journal of Managed Care10d
JAK Inhibitors Show Promise in Concurrent Myeloid Disorders, IADs
In recent years, it’s been estimated that 10% to 28% of patients with myeloid disorders develop adult onset inflammatory and ...