Description of the project and research questions being asked

You might be wondering, "What is Rett Syndrome?"   A neurodevelopmental disorder on the autism spectrum, Rett Syndrome is unlike most cases of autism in that it is caused by an alteration in a single gene rather than hundreds of genes. Another striking difference between Rett Syndrome and most other types of autism is that is almost exclusively affects girls.  The first symptoms of Rett Syndrome tend to develop between the ages of 6-18 months, and include handwringing, slow development or underdevelopment, and social problems. The communcation that lacks between these children and their families is unbearable.  In addition, the life expectancy may have a wide range, but we need to keep in mind that this is an issue of the quality of their lives.  Because this disorder is so rare, it has gone undiagnosed or misdiagnosed for many years.   At the world-renowned Cold Spring Harbor Laboratory (CSHL), Dr. Keerthi Krishnan is conducting research on Rett Syndrome aimed at providing a better understanding of the genetic causes of Rett Syndrome in order to develop new therapies for those afflicted with this devastating disorder.  Using genetically engineered mice that accurately mimic Rett Syndrome in humans, Dr. Krishnan hopes to understand how  brain’s integration during the  critical period is altered in Rett Syndrome.  Having these mouse models and cutting-edge technology available at CSHL, Dr. Krishnan will be able to study and observe this disorder at an unprecedented level. Some of the research questions that she seeks to answer with her project include:

• What occurs during the critical period of development and how does it relate to Rett Syndrome?
• What other characteristics does the Rett Syndrome gene (MeCP2) code for?
• How greatly is vision affected for those who have Rett Syndrome?

Why this matters and should be exciting to backers

As mentioned above, Rett Syndrome is caused by a mutation in a single gene – the MeCP2 gene Because Rett Syndrome is a monogenetic disease, it is much easier to understand, target, and hopefully treat.  With the help of Petridish.org, we hope to raise awareness and funding for research at CSHL that will lead to new behavioral interventions and treatments for Rett Syndrome.  Children with Rett Syndrome are not the only ones suffering; the families lack all communication with these children.   Right now parents feel overwhelmed by the news that their child has Rett Syndrome, especially because a cure is so far out of reach; however, the work that Dr. Krishnan is conducting will bring relief to children and families affected by Rett Syndrome .  A better understanding of the disorder is will enable early diagnoses, and development of treatment, and therapies that can improve the quality of the lives affected.

Potential discoveries

Dr. Krishnan’s research promises to provide information that will enable early interventional treatments that will bring a greater sense of normalcy to these households affected by Rett Syndrome. 

What your money can do

Projects like this are able to happen because of private funding.  Now, public grants are so limited and restricted that scientists are no longer able to depend on them for their cutting-edge research.  Private donors have made many of the discoveries groundbreaking at Cold Spring Harbor Laboratory’s possible.

Biography

My name is Keerthi Krishnan and I am currently a postdoctoral researcher in the Department of Neuroscience in Cold Spring Harbor Laboratory. I received my Ph.D. in Pharmaceutical Sciences and Pharmacogenomics from University of California- San Francisco and my B.Sc. in Molecular and Integrative Physiology from University of Illinois, Urbana-Champaign.  The goal of my research at Cold Spring Harbor Laboratory  is to determine the pathogenesis of Rett Syndrome, an Autism Spectrum Disorder, by integrating molecular, developmental, physiological and behavioral approaches. 

Additional Links

http://www.cshl.edu

http://huanglab.cshl.edu/

http://www.youtube.com/cshldevelopment

http://www.rettsyndrome.org/content/view/767/944#krishnan

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