Posts Tagged ‘research’

Co-Founders Suzanne and Bob Wright on MSNBC

April 12, 2011 4 comments

On Monday April 11th Suzanne and Bob Wright, Founders of Autism Speaks, were interviewed by MSNBC’s Andrea Mitchell in recognition of April as the nation’s month for autism awareness.  Key points discussed – funding for research and adults with autism.

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State of Autism Science Webinar and Podcast Series

April 1, 2011 1 comment

The Science Webinar and Podcast Series is a new service from Autism Speaks to help keep our community informed about the latest in autism research. Each month we will feature a leading expert to share with us the exciting progress being made and what it means for individuals and families affected by autism. Our goal is to help our community better understand all the new and exciting science being supported by Autism Speaks and other funders. We plan to be comprehensive in our coverage, including everything from genetics and environmental sciences to medical care and clinical trials. Occasionally, we will also feature special topics, like awareness and family support, that while not part of the Autism Speaks science program, are informed by our research and development efforts.

We are very pleased that our inaugural episode of the Autism Speaks Science Webinar and Podcast Series features Autism Speaks’ Chief Science Officer, Dr. Geri Dawson. Dr. Dawson will share with us two new exciting science initiatives at Autism Speaks aimed to deliver better medical care and develop novel treatments for our community.

Please find the webinar video below this post, or you may access the audio-only podcast here:

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The Phelan-McDermid Syndrome Foundation

January 11, 2011 46 comments

Guest Blogger Geraldine Bliss is the Chair of the Research Support Committee for the Phelan-McDermid Syndrome Foundation.

Six years ago, my son, Charles, was diagnosed with Phelan-McDermid Syndrome (PMS), a rare genetic condition caused by damage to chromosome 22 (22q13).  Charles has a chromosome break in the middle of the SHANK3 gene, which codes for the crucial post-synaptic protein, Shank3, mutations of which cause autism.  Charles has a rather small deletion by PMS standards, and he was one of the first patients to be diagnosed with PMS through chromosomal microarray.

Once we learned the diagnosis, our family quickly connected with the Phelan-McDermid Syndrome Foundation (PMSF), where we met, both on-line and in person, other families facing the same challenges.  Just as in the larger autism community, some individuals with PMS were “just like Charles,” while others were very different.  The foundation members were quick to embrace us and make us feel like extended family.  Through PMSF’s biennial conference, regional get-togethers, newsletters, family discussion group, and social networking, our 600+ families are able to stay connected and support each other.

PMSF has grown quickly, but our membership numbers reflect only the very tip of the PMS iceberg.  In the U.S. alone, we estimate there are about 8,000 children with PMS.  Many of these children have never been tested with a chromosomal microarray (the most common test for PMS), either because their doctors have not referred them or because the cost is not covered by their health plans.

Charles is now 12 years old.  Just before his 9th birthday, he started having seizures.  As his seizures spiraled out of control, and we began to exhaust one treatment option after another, I promised Charles to do whatever I could to help him get better.  I became the chair of the PMSF’s Research Support Committee.  Our family crisis, and my new role in the Foundation, occurred at a critical juncture in autism research.  There has been growing scientific interest in SHANK3, a gene on chromosome 22 along with several other autism-related genes, which portend a new era of understanding and medical treatment.

While only about 1% of people with autism spectrum disorders (ASD) have SHANK3 mutations, Shank3 research has broad implications for many people with ASD.  It plays an important and central role in synaptic structure, learning, and memory in autism.  It interacts with many other proteins critical to neurological functioning, and some of these proteins are already implicated in other genetic forms of autism.  A number of researchers have developed mouse knockout models that turn off different parts of the Shank3 protein.  These models have led to behavioral, chemical and physiological assays to study the underlying molecular problems in ASD and to rapidly test candidate drugs for future clinical studies.  Unlocking the mystery of Shank3 will open the door to understanding its partner proteins, providing a research path towards effective drug treatments for many ASDs.

While Shank3 research is very promising, laboratory science by itself will not lead to effective treatments. In January 2010, the PMSF’s Research Support Committee met to develop its first strategic plan for science.  As a result, we prioritized several initiatives aimed at promoting all of the steps needed to ensure that research will lead to clinical gains.  One of the most exciting initiatives is the Phelan-McDermid Syndrome International Registry.   The Registry will collect and catalog information about the developmental, behavioral, and health profiles of individuals with PMS.  The Registry will better characterize PMS, inform clinical care guidelines, and facilitate the discovery and development of therapeutics for PMS.

Our Foundation is also organizing the First International Phelan-McDermid Syndrome Symposium, which will be held on March 3 and 4, 2011.  Our co-investigator is Joseph Buxbaum, Ph.D., Mt. Sinai School of Medicine.  Our goal is to bring together our stakeholders to develop a plan to maximize scientific resources through coordinated efforts and to find the fastest pathways from bench to bedside.  The discussions from the symposium will inform PMSF’s funding decisions as we begin to award grants and fellowships.

Charles’ seizures continue to be poorly controlled.  He has social, behavioral, and communication challenges that affect every aspect of his life.  After all these years, you might think I would have come to terms with all of this, but every day I feel grief.  Sometimes I wonder how much more fear and heartache I can take, but Charles inevitably straightens me out!  Charles has retained a joy that seems incompatible with the suffering he has endured.  Every day his smile and great big dimples tell me he wants to live life and live it joyfully.  How could I not pledge myself to accelerating translational PMS research?  Now that I am involved, I truly appreciate the role that patient advocates can have in both supporting research and helping to steer its course.

We are now at the beginning of a very exciting time for research related to disorders like PMS and other genetic causes of autism.  Advances in science, including the mapping of the human genome, new research tools, and new high-throughput drug discovery paradigms, are reshaping expectations about understanding and treating genetic conditions.  Our group’s goal is not just finding medications to treat some of the manifestations of PMS, but having therapeutics that will target the underlying molecular causes.  Just a few years ago, I had little reason to expect significant help from medical science, but promising new scientific work on Shank3 is inspiring hope that perhaps we will one day have a cure for PMS and related ASDs.

To learn more about the Phelan-McDermid Syndrome Foundation, please visit:

Why is international research on the prevalence of autism important?

December 28, 2010 5 comments

“Got Questions?” is a new weekly feature on our blog to address the desire for scientific understanding in our community.  We received over 3000 responses when we asked what science questions were on your mind. We answered a few here and the Autism Speaks Science staff will address the other themes we received in this weekly post.

Evidence suggests that autism knows no cultural, ethnic, or geographic boundaries.  It affects 1 in every 110 children (or about 1% of children) in the United States and converging research findings from around the world suggest that autism may affect 1% of the global population.  However, most autism epidemiology studies to date have taken place in select areas of relatively developed nations and communities and have used strikingly different study designs that complicate comparison across studies.  Further, very little is known about the occurrence of autism in low-resource territories with limited to no public health capacity and infrastructure.  By working to address these barriers and to facilitate well-designed epidemiology research around the world, investigators can begin to answer questions surrounding the occurrence of autism globally.

International research can help address questions regarding the causes of autism and changes in its occurrence rates over time.  Specifically, by comparing autism prevalence across nations, researchers can generate clues about the involvement of genetic risk factors or environmental exposures. International studies create opportunities to study autism in different ethnic groups, in special populations (e.g., those that are genetically closely related), and among populations with specific or uncommon environmental exposures (e.g., certain pollutants) not found elsewhere.

Additionally, some nations have special resources, such as health registries and surveillance systems that can generate large datasets and make previously impossible studies on the causes of autism possible. Autism Speaks is currently supporting the iCARE project which combines data from Norway, Sweden, Denmark, Finland, Israel, and Australia to investigate pre- and peri-natal risk factors for autism.

Just as autism’s high prevalence rate drove its emergence as a public health priority in the United States, children in nations around the world will benefit when their governments recognize that autism is not a rare disorder.  Epidemiology research can help increase awareness about autism and help government agencies develop informed policies regarding care of individuals and families with autism and other developmental disorders within their country.

In addition to epidemiology, it is vitally important to investigate additional areas relevant to public health research and dissemination.  Specifically, understanding the economic impact of autism can help researchers and advocates gauge the impact of autism on societies, including the quality of life of affected individuals and families.  Equally important, this information can serve as a means to promote increased access to low-cost and widely available services, such as through healthcare insurance reform in the United States.  Additionally, the impact of early diagnosis and early intervention on the economic burden of autism can be assessed to further make the case for increased service support to both general and underserved populations in the U.S. and aboard.

International autism research will not only shed light on the scope of the autism challenge around the world but will also serve to raise global awareness of autism. As this increased awareness can help galvanize communities, epidemiologic findings have the potential to influence government, public health agency, and medical organization policies and practices, thus benefiting previously underserved communities. In low-resource countries in particular, these efforts will function to enhance the infrastructure and capacity necessary for ongoing autism research as well as for services. International research may also help uncover previously undiscovered genetic and environmental factors that contribute to the development of autism spectrum disorders, thereby further benefiting the scientific community and ultimately, affected individuals and their families.

Why is autism more common in boys?

December 21, 2010 4 comments

“Got Questions?” is a new weekly feature on our blog to address the desire for scientific understanding in our community.  We received over 3000 responses when we asked what science questions were on your mind. We answered a few here and the Autism Speaks Science staff will address the other themes we received in this weekly post.

In 2009, researchers discovered an autism risk gene on chromosome 17 called CACNA1G that is more common in boys than girls. The gene is partially responsible for regulating the flow of calcium in brain cells. Calcium is very important in transmitting information and having too much of the mineral may cause the overexcitability of neural circuits that we have seen in autism. This is a promising finding, though there have been other suggestions. Some researchers have suggested that females are less vulnerable to developmental disorders because of their neurochemistry. Also, autism risk genes have been found on the X chromosome. Since girls carry two X chromosomes, they have two copies of these genes, and one of the genes may not carry the mutation. This may help to protect them against the effects of an X-linked mutation. Although we don’t have a firm answer yet, the gender imbalance in autism diagnoses is a clue that researchers are pursuing actively.

Are you aware of any research being done on diet and its affect on children w/ autism? If so, what has been learned?

December 21, 2010 3 comments

“Got Questions?” is a new weekly feature on our blog to address the desire for scientific understanding in our community.  We received over 3000 responses when we asked what science questions were on your mind. We answered a few here and the Autism Speaks Science staff will address the other themes we received in this weekly post.

To date, there have only been a few published rigorous clinical trials examining the efficacy of dietary treatment (specifically, the gluten-free, casein-free diet) for improving symptoms of ASD. These have been negative or inconclusive, but were based on very small samples. More recently, Dr. Susan Hyman at the University of Rochester reported the results of a double-blind, randomized trial in which children who were on the diet were challenged with foods containing casein and gluten. Dr. Hyman examined factors such as attention, sleep and the stool of 22 children with ASD both challenged and unchallenged and found no benefit from the diet. Dr. Hyman stressed that her findings don’t rule out the possibility that there may be subgroups of children who benefit. Autism is a very heterogeneous condition. More research is needed.

How can families participate in research studies?

December 21, 2010 Leave a comment

“Got Questions?” is a new weekly feature on our blog to address the desire for scientific understanding in our community.  We received over 3000 responses when we asked what science questions were on your mind. We answered a few here and the Autism Speaks Science staff will address the other themes we received in this weekly post.

Great question! We hope more families wish to get involved in research. One easy way to get started is through an online portal called the Interactive Autism Network (IAN) at This site allows you to participate in research from your home. You can also find studies and participate in programs supported by Autism Speaks. If you are interested in a clinical trial (which is not just about treatment, but also diagnosis, identifying subtypes, etc.) you can find more information at


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