INTERNATIONAL RETT SYNDROME ASSOCIATION
PERMANENT RESEARCH FUND
SUBMISSION DEADLINES: JANUARY 15, JULY 15
In most circumstances, IRSA grants will be up to $40,000 with two competing renewals possible. For larger grants, special permission should be obtained prior to submission.
- Hypothesis based proposals
- Can be high-risk, high-reward
- To obtain pilot data
- A traditional NIH type proposal
- To enhance and extend existing NIH funded studies
- To add a student, fellow or staff to ongoing RS studies
- To add a RS component to related studies
- Studies to enable basic research findings to move towards clinical application and treatment
- Need not be hypothesis-based
For further information, go to:
RETT SYNDROME is a brain disorder which appears primarily girls after a period of early normal development until six to 18 months of age. A period of regression follows during which acquired speech and hand skills are lost, and seizures, repetitive hand-wringing or hand-washing movements, irregular breathing and motor-control problems develop. Individuals with RS can live to adulthood, but most never regain the ability to use their hands or to speak.
In October of 1999, the discovery of a genetic mutation (MECP2) on the X chromosome (Xq28) revealed significant insight into the cause of Rett syndrome,. Continued research is now focused on still unidentified genetic factors which may contribute to RS. The gene instructs cells throughout the body to make a protein known as methyl-CpG binding protein-2 or MeCP2. In the nuclei of cells, the head of the MeCP2 protein attaches directly to the methylated DNA in control regions of target genes, while the tail fastens to a large complex of proteins that compact the target gene and keep it silent. This is the first instance of a human disease caused by defects in a protein whose function it is to silence other genes.
Message posted by: Frank S. Zollmann
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