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International Rett Syndrome Foundation awards $2M for cutting-edge Rett syndrome research
Date:10/1/2009

mRNA is an ideal target for drug discovery because it is a key regulatory molecule in the cell.

Annamaria Lilienkampf PhD, University of Illinois at Chicago (Mentor Alan Kozikowski, PhD)
The Role of Histone Lysine Methylation Marks in Rett Syndrome Identification of Novel Histone Lysine Methyltransferase Modulating Agents

Dr. Lilienkampf will conduct a novel drug discovery project based on interactions between MeCP2 and key enzymes called histone lysine methyltransferases (HKMTs) which are known to regulate transcription. Small molecules that can manipulate this interaction called HKMT inhibitors will be studied to better understand if they alter the developmental course and rescue the pathology of Rett syndrome. The first series of HKMT inhibitors could eventually be tested as new drugs for intervention in Rett syndrome but they could also help guide the process of identifying new therapeutic agents within the same lead series.

Additional Grants Awarded in 2009

Omar Khwaja, MD, PhD Children's Hospital Boston - ANGEL AWARD RECIPIENT
Pharmacological Treatment of Rett Syndrome by Stimulation of Synaptic Maturation with IGF1

The study will test an experimental treatment based on the administration of insulin like growth factor 1 (IGF1) in a pilot clinical study in 30 patients with Rett syndrome. The trial is based on preliminary findings in mice which suggest that targeting the IGF1 signaling axis may partially reverse Rett symptoms by boosting synaptic maturation of neurons in the brain. The treatment to be used in the study is an FDA approved drug called Increlex, a bioengineered form of the IGF1 protein. The study drug has previously been used to treat growth and has a known safety and tolerability profile in a pediatric population. Although this is a pilot clinical trial in 30 patients, if successful the study will have significant impact on the field and may lead to a new diseas
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Contact: Dr. Antony Horton
212-459-2608
International Rett Syndrome Foundation
Source:Eurekalert

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