A-Z of Rett Syndrome
BENGALURU: Awareness about rare diseases can sometimes prevent serious conditions from being overlooked. One such condition ...
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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 ...
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Integral T Cell Pathway Linked to X Chromosome Inactivation, Shedding Light on Sex-Based Immune Responses
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
London hospital opens Europe’s first children’s clinic for rare genetic condition - Centre at the Evelina Children’s Hospital ...
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 ...
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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.
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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 ...
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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 ...
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 ...
UK GPs encouraged to screen for Fragile X syndrome amid rising concerns
Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and ...