Posts Tagged ‘autism research’

If breakthroughs take time, how can research help families today?

February 9, 2012 10 comments

Posted by Autism Speaks Chief Science Officer Geri Dawson, Ph.D.

Dear friends,

Recently, someone posed a question that made me think hard about the immediate relevance of our research to those affected by autism. I had been explaining Autism Speaks’ new focus on developing medicines that, one day, will target autism’s core symptoms in ways that reduce disabilities and improve learning abilities. Someone commented that this would likely take years to accomplish. I had to agree. His follow-up question: So, how does research help families today?

For the answer, I found myself thinking about how the Cystic Fibrosis Foundation faced this same question decades ago. Like Autism Speaks, the Cystic Fibrosis Foundation was grappling with a disorder in its medical infancy. Cystic fibrosis was defined as a medical condition in 1938. The Foundation followed in 1955. At that time, the median age of survival for those affected by the disorder was just ten years.

The leadership of the Cystic Fibrosis Foundation knew they were grappling with a complex disorder that would take years to fully understand. So they developed parallel research efforts. One focused on the immediate development of improved diagnosis and treatments that could ease symptoms. The other focused on basic science with the goal of ultimately revolutionizing treatment with therapies that target the disorder’s root causes.

Their short-term efforts included support for a network of clinical care and research centers, a patient registry and studies that focused on improving treatment of chronic symptoms and associated medical conditions. Within a relatively short time, diagnostic methods improved and physicians began adopting new gold-standard practices, including new methods for fighting lung infections and improving lung function – all made possible through research that the Cystic Fibrosis Foundation helped support. The median age of survival jumped from 10 years to 37 years!

Meanwhile, long-term research efforts focused on understanding the causes and biology of cystic fibrosis. In 1989, scientists made major breakthroughs in genetic understanding. This, in turn, led to tremendous insights into the disorder’s underlying biology. Then, just last week, the FDA approved the first drug to treat the underlying cause of cystic fibrosis, rather than its symptoms. One doctor described how his patient was able to “shovel snow for the first time.” Not coincidentally, the Cystic Fibrosis Foundation had contributed millions of dollars to the development of this drug (Kalydeco). Its early funding had been essential to convince drug companies to make the larger financial investment needed to bring any successful drug to market. In the process, the foundation negotiated a deal to earn drug royalties, which will now be reinvested in further research advancements. Just as exciting, other “disease-modifying” cystic fibrosis drugs are moving through the research pipeline.

This is the same strategy that Autism Speaks is taking with investments in both research that improves quality of life in the short term and longer-term research that promises to transform how autism is treated.

Here are just a few examples of funded research projects with the potential to improve quality of life in the near future:

  • Identification of preventable environmental risk factors for autism spectrum disorder (ASD)
  • Validation of questionnaires that pediatricians can use to screen babies for ASD and, so, offer earlier intervention that will improve outcomes
  • Biomarkers (e.g. immune alterations) that could identify infants at risk for ASD
  • Development of effective early interventions for babies before the full syndrome develops
  • Support of technological inventions to enhance communication in nonverbal persons
  • Development of physician guidelines for assessment and treatment of medical conditions associated with ASD
  • Development of more effective treatments for associated conditions, including sleep disturbances, GI disorders, seizures and anxiety
  • Development of interventions to improve employment success and relationship skills in adults
  • Development of cognitive rehabilitation interventions for adults

Even as we support the development of these improved services, we are also investing in research that can identify the most effective ways to broadly implement new gold-standard practices to produce positive changes in community healthcare, education and support services for all persons who struggle with autism. This type of “dissemination research” also tells us how to best target limited resources.

Meanwhile, our long-term investments are advancing the understanding of autism’s underlying biology and the genetic and environmental factors that contribute to its development. These investments are exploring the role of the immune system, brain signaling pathways and the GI system, among other topics. Over the last five years, tremendous progress in these areas has advanced research to the point where we are now collaborating with industry to develop novel drugs with the potential to ease severe and disabling core symptoms – in adults as well as children. Fortunately, the tools we have available today will make drug discovery and development much faster than before.

Connecting the dots
At Autism Speaks, the research we fund interconnects with all parts of our mission, including awareness, advocacy and family services. Our awareness campaign, for example, is shaped by research that has revealed great disparities in access to services by communities such as ethnic-minority and low-income families.

Our advocacy of insurance reform, in turn, critically depends on research that demonstrates how early intervention improves outcomes. Research also plays a critical role in bolstering our advocacy for adolescents and adults. For example, a recent study demonstrated that adults with ASD face greater challenges in employment and social participation than do adults with other common disabilities. More importantly, this same study suggests that providing transition services immediately after high school is the most cost effective way to improve outcomes. We can use this information to advocate for improved services during the transition from high school to adulthood. Other currently funded studies promise to help us advance insurance reform to assure coverage of other interventions with proven benefits for school-age children and adults.

Similarly, Autism Speaks is funding research aimed at determining the real-world effects of proposed changes in the diagnostic criteria for autism. Will these new criteria exclude people previously diagnosed with ASD? Will they affect access to vital services? These answers will be crucial to our ability to advocate for any necessary changes in the proposed criteria.

While we see our research improving lives now, we remain committed to our long-term goals of revolutionizing treatment of ASD. I know in my heart that someday we will be making the kind of breathtaking announcement that we heard from the Cystic Fibrosis Foundation last week. The day is coming. In the meantime, we will ensure that our scientific mission remains relevant to our families today.

Warmest wishes,

Geri Dawson
Chief Science Officer, Autism Speaks

The Year in Review from Autism Speaks’ Chief Science Officer

January 9, 2012 2 comments

Dear friends,

When I was a college student starting to explore autism research, one of the first studies I read provided strong evidence that autism was mostly a genetic condition. That study, by Michael Rutter and Susan Folstein, looked at 21 pairs of twins, at least one of each pair being affected by autism. It compared identical twins, who share all of their genetic makeup, with fraternal twins, who share around half their genes. It found that when one identical twin had autism, so did the other 83 percent of the time. By contrast, this was true of only 10 percent of the fraternal twins. For the next three decades, it was taken as fact that the causes of autism were almost completely genetic.

That changed this past year with the largest ever autism twin study, made possible by  your support for Autism Speaks and its Autism Genetic Resource Exchange (AGRE). Read more …

It’s Here! Announcing 2011’s Top Ten Advances Autism Research

December 20, 2011 10 comments

Every year, Autism Speaks documents progress toward its mission to discover the causes and best treatments for autism spectrum disorders (ASD) and identifies the most important autism research achievements of the year. Our “Top Ten” list for 2011 includes discoveries on how frequently autism recurs in families and the extent to which “environmental,” or non-genetic influences, increase the risk of autism.  All of the research described in this list will profoundly shape the future of autism research in 2012 and beyond. Some of these remarkable findings are already delivering real-world benefits to individuals and families struggling with autism.

“Not only has the research community continued to make significant progress towards effective treatments, 2011 offered some game-changing discoveries that help us understand underlying causes of ASD,” says our Chief Science Officer Geraldine Dawson, Ph.D. “Some of these discoveries will have direct and immediate impact on quality of life of people with autism.”

Our Top Ten list comes about through the recommendations of our science leadership and the members of our scientific advisory committee. It reflects the exponential rate of discovery we’re now seeing in autism research—progress made possible by the joint commitment of government health agencies and private organizations such as Autism Speaks. In other words, made possible by YOU—our families, donors and supporters.  We thank you for your commitment to research, both in terms of your financial donations and your participation in research.

To read about the major autism research discoveries of the past year, please see our Top Ten Autism Research Advancements of 2011.

Table of Contents

(Order does not imply relative importance.)

More than Just Genes…
Population Screening Reveals Dramatically Higher Autism Rates…
Baby Siblings at Risk…
De Novo Genetic Changes Provide New Clues for Autism…
Different Forms of Autism Share Striking Brain Similarities…
Prenatal Vitamins Before and After Conception May Decrease Autism Risk…
Gene Knockout Mouse May Offer Leap Forward in Autism Animal Models…
Tweaking Electrical Activity in the Brain Impairs & Restores Mouse Social Behaviors…
More Evidence Linking Immune System to Some Forms of Autism…
Earlier Autism Screening Shows Promise…


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