Friday, September 11, 2015


The month of October is marked as “Rett Syndrome Awareness Month” all around the world. Indian Rett syndrome Foundation have been organizing the awareness programs for Indian Rett families and healthcare professionals from last four years and these have proved to be great success because of support of Rett Families, Doctors, Scientists and Researchers.
            This year IRSF is organizing and sponsoring its 8th annual Awareness meeting and symposium on “25th October 2015”. In this meeting, parents will be coming from all parts of India and the parents will get a chance to connect and interact with each other and share their views/suggestions/queries with each other and with Doctors/Scientists/therapists who will also be taking part in this meeting.
Date: 25th October 2015 (Sunday)
Time: 09.00 am – 6.00pm
Lecture Theater 1, Teaching block, First Floor, 
Safdarjung Hospital-Vardhman Mahavir Medical College, Mahatama Gandhi Mrag, Raj Nagar, Ansari nagar west, New Delhi-110029
Who can Attend:
Parents, Doctors, Scientists, Researchers, Caregivers, Therapists, Relatives, Students
We hope that this year again, the meeting will get your support. So kindly join us for this cause. We are also looking forward for participation of Volunteers and Sponsors for this event. Please do reach us at below mentioned contacts to register for the event. 

Thanks, Regards,

Monday, June 29, 2015

RSRT Awards $5.8 Million For Research and Two Clinical Trials

Research from Harvard University Points to Potential New Avenue for Treatment of Rett Syndrome

Every cell in our body contains the same genes. Yet a brain cell is distinctly different from a heart cell or a liver cell. What differentiates these cells are the genes that are either silenced or active and the degree of activation of the genes, also known as expression.
Scientists have known for many years that the “Rett protein”, MeCP2, regulates the expression of other genes. The big question has been, which genes?
Michael Greenberg of Harvard University, and his lab members Harrison Gabel and Benyam Kinde, may have an answer: long genes. The journal, Nature, is publishing this finding today.
Genes are made up of nucleotides (think back to high school biology: A,T,C,G) The average gene has about 20,000 nucleotides, but some have as many as a million. The scientists in the Greenberg lab found that the MeCP2 protein acts as a dimmer switch, dampening the expression of long genes. When the MeCP2 protein is absent, as in the case of Rett, with no dimmer switch to regulate it, long gene expression goes up. Any deviation from the normal expression pattern causes problems.
From this finding, the scientists suggest that Rett Syndrome may be caused by a widespread overexpression of long genes.
You may be asking yourself, why does this matter? It matters because there is a drug that can rebalance the expression levels of long genes. The Greenberg lab has already tested this drug in cells missing the MeCP2 protein with encouraging results. Experiments are now underway to test the drug in Rett mice.
This is a promising development. We are providing the following resources to help you understand the progress being reported today.

Source/Courtesy: Rett Syndrome Research Trust Blog

RSRT Awards $530,000 to Neurolixis for Clinical Development of NLX-101

Rett Syndrome Research Trust (RSRT) recently awarded $530,000 to Neurolixis, a small biotech firm in southern California that is developing the drug, NLX-101, to treat breathing abnormalities in people affected by Rett Syndrome. The drug targets a specific serotonin receptor (5-HT1A) located in regions of the brain that affect respiration, mood and cognition.  It’s possible that, beyond breathing, the drug may also improve other core symptoms such as anxiety and movement disorders.
Neurolixis has already obtained Orphan Drug status for NLX-101 in both the US and in Europe. This designation provides the company with certain financial incentives as part of the Orphan Drug Act.  
Previous RSRT funding to Neurolixis focused on studies to determine dosage levels for human studies. The next step is for Neurolixis to file an Investigational New Drug (IND) application with the FDA before clinical testing of the drug can begin.
The current award will be used to manufacture and characterize clinical supplies of NLX-101, and to prepare regulatory documents for submission to the FDA. The goal is to have the IND submitted to the FDA within a year.  Once the IND is open, Neurolixis will test the safety, tolerability and pharmacokinetics (the time course of the drug’s absorption, bioavailability, distribution, metabolism and excretion) in healthy volunteers and in people with Rett.
By supporting this program, RSRT will help Neurolixis “de-risk” the project and make it more attractive to investors, who can support the next stage of development and expedite the process.

Source/courtesy: Rett Syndrome Research Trust Blog