Human ‘Domainome’ Reveals Root Cause of Heritable Disease

by Centre for Genomic Regulation

1 year ago
missense mutations, Rett Syndrome, MECP2, Human Domainome 1

Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a massive study of human protein variants published today in the jou...

Research in Pitt-Hopkins at Sant Joan de Déu, a neurodevelopmental disorder

by Fundació Sant Joan de Déu

2 years ago
Pitt-Hopkins syndrome, TCF4 gene, MECP2 gene, Rett syndrome

Pitt-Hopkins syndrome is a rare genetic disorder, with an incidence of 1/11,000 to 1/41,000, caused by mutations in the TCF4 gene. This gene is crucial for the normal development of the nervous system...

Connecta Therapeutics raises €1.7 M in a round led by Inveready to develop new treatment for fragile X syndrome

by Inveready

6 years ago
Inveready, Prous Institute for Biomedical Research, CDTI, Connecta Therapeutics, FXS, neuroplasticity, autism, Rett syndrome, Down syndrome

Connecta Therapeutics has closed a €1.7 million round of investment led by Inveready that will allow the company to take its first drug through to phase IIa clinical trials in patients who have frag...

Crowdfunding for research into new treatments for Rett syndrome

by IBEC - Institut de Bioenginyeria de Catalunya

11 years ago
Rett Syndrome, Crowdfunding, MECP2 gene

It affects approximately 1 in 10.000-15.000 children and is usually due to the presence of a mutation in the MECP2 gene, an epigenetic gene that controls the activity of many other genes of the cell

Researchers discover that effective drugs for Parkinson's reduce symptoms of Rett syndrome in mice

by Professional Newco

12 years ago
Rett syndrome, Parkinson

IDIBELL researchers have shown that a combination of effective drugs for Parkinson's disease in mice that are used as a model of human Rett syndrome reduces some of the symptoms associated with this d...