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Interview with Dr. Alan Guttmacher
Newly Named Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

Click here to read the full interview

Highlighted Quotes from this Interview:
“Our knowledge of the genome continues to unfold and get more sophisticated, and we are coming to understand epigenetic phenomenon. Those kinds of things will be very important in terms of finally beginning to understand what are the specific causes of autism”

“We historically tend to label conditions by symptoms, rather than by cause, but if you want to treat something and prevent it from getting worse, you really want to understand the biology. If you try to treat the symptom you won’t be as effective as if treat the underlying biological causation.”

 “We know that there are genetic and other biological factors that have to do with (autism). We haven’t identified all of them so it is hard to prove that something is not involved, but there is no evidence at this point whatsoever that vaccination plays a role”

 “I haven’t had family members with autism but I have certainly had both friends and patients with autism and I have some sense of what that means for peoples’ lives. I think the reason why most of us who work at NIH work here, is the fact that we get to go to work and do something that we think can improve peoples lives”

Click here to read the full interview

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Visit the photo gallery from our August 2 "Fore Autism" golf event.  Click here.

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ASF Launches YouTube Channel Featuring Interviews with Top Autism Scientists

(July 13, 2010) The Autism Science Foundation announced today that it had launched its new "Autism Science Foundation Channel on YouTube" which will feature interviews with top autism researchers, ASF grantees, autism book authors, and others.

Among the inaugural videos are interviews with Dr. Joe Buxbaum (Mount Sinai School of Medicine); Dr. Eric Courchesne (UCSD); Dr Connie Kasari (UCLA); Dr. David Mandell (Univ of Pennsylvania); Dr. Jennifer Pinto-Martin (Univ of Pennyslvania); Dr. Brian Freedman (Kennedy Krieger Inst.); Dr. Jonathan Green (University of Manchester): and Dr. Lisa Eyler  (UCSD).  

Also included are presentations by Autism Science Foundation's pre-doctoral grant recipients from our May 2010 Science & Sandwiches program.

Visit the site, leave a comment, and tell us who you'd like to hear from next.

New Autism Susceptibility Genes Identified

By Joseph Buxbaum, PhD

(June 9, 2010) Researchers of the Autism Genome Project Consortium (AGP) announced today that they have identified new autism susceptibility genes that may lead to the development of new treatment approaches.

The study results are based on analysis of copy number variants (CNVs) — rare submicroscopic insertions and deletions — identified in high-density genotyping data collected from 1,000 individuals with autism spectrum disorder (ASD) and 1,300 without ASD. The findings were published today in Nature by the international consortium of researchers who make up AGP.

There are several important results from this study. First, the findings provide further support for an emerging consensus within the scientific community that autism is caused in part by many “rare variants,” or genetic changes found in one percent or less of the population. While each of these variants may only account for a small fraction of the cases, collectively they are starting to account for a greater percentage of individuals with autism.  More importantly, they are also providing insights into possible common pathological mechanisms.

Second, the findings show that CNVs disrupting genes are more common in ASD than in controls. Some of the more compelling findings include CNVs in SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53–PTCHD1 locus.

Third, the AGP explicitly tested whether genes previously implicated in intellectual disabilities but not in autism represented autism genes. The evidence was quite clear that such genes are also autism genes. The overlap between autism susceptibility genes and genes previously implicated in intellectual disabilities further supports the hypothesis that at least some genetic risk factors are shared by different psychiatric developmental disabilities.

Finally, the AGP carried out pathway analyses and noted that many of the autism genes that were identified belong primarily to synapse-related pathways, while others are involved in cellular proliferation, projection and motility, and intracellular signaling. Identification of these biological pathways points to new avenues of scientific investigation, as well as potential targets for the development of novel treatments.

Therapies specifically targeted to identified genetic causes (“personalized medicine”) are now being tested in several neurodevelopmental syndromes associated with autism, including Fragile X syndrome, tuberous sclerosis, and Rett syndrome. The identification of additional autism genes will expand such approaches and lead to new therapies.

 Joseph D Buxbaum, PhD is Director of the Seaver Autism Center for Research and Treatment at Mount Sinai and serves as Editor-in-chief of the journal Molecular Autism.  Dr. Buxbaum is one of the leading contributors to the design, analysis, and writing of this study and is a lead AGP investigator.

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June 2, 2010: ASF has some new job openings at its NYC office. Click here to learn more

Check out new photos from our May 2010 events; Science and Sandwiches at IMFAR in Philadelphia and our Mother's Day Brunch in New York.


Headlines from IMFAR
--GFCF Diet Not Beneficial
--Potential Autism Biomarker Identified
--Potential New Psychopharm Autism Treatment Identified
--80% Divorce Rate Myth Debunked

May 19, 2010--The International Meeting for Autism Research (IMFAR) officially gets underway tomorrow in Philadelphia, but already there is significant discussion about several studies that were presented at today’s IMFAR press conference.

Dr. Susan Hyman of the University of Rochester reported on her study that shows the gluten free casein free (gfcf) diet does not appear beneficial for children with autism.

"It would have been wonderful for children with autism and their families if we found that the gluten-free, casein-free diet could really help, but this study didn't show significant benefits," said Dr. Hyman

"The removal of gluten and casein from the diet of a controlled group of young children with autism did not demonstrate a change in sleep habits, bowel habits, activity or core symptoms of autism," Hyman said.

Dr. Eric Courchesne of UCSD spoke at the press conference about his study showing a simple brain scan performed in infants and toddlers may be a biomarker for autism leading to early detection and early intervention.

The test involved using functional MRI to measure brain responses to spoken words in sleeping children.

“We discovered that autistic infants and toddlers displayed a pronounced abnormality of language activation and cortical development” said Courchesene.  “At each age studied from infancy to young childhood, most autistic subjects had greater activation on the incorrect side, namely, the right temporal cortex, compared to the left side and this incorrect activation pattern did not change or “normalize” even by 3 or 4 years of age.  The abnormal pattern was strong in a substantial percentage of autistic infants and toddlers suggesting that with further testing refinements, clinical tests revealing this abnormal activation pattern in individual cases could serve as a biomarker for risk for autism.”

Dr. Joseph Buxbaum of the Seaver Center at Mt. Sinai School of Medicine described a potential new treatment for individuals with autism who carry a Shank3 gene mutation (approximately 1% of the autistic population). “We have developed mice with a mutant Shank3 gene and observed deficits in the communication between nerve cells in the brain, which can lead to learning problems” said Buxbaum.  “Some changes we observed implicate a neurotransmitter for which several classes of drugs have been developed and we are now testing those classes of drugs in the mice. These changes, as well as other changes in the mice, indicated that the nerve cells were not maturing at the normal rate, so we gave the mice an experimental compound to help the nerve cells. This compound, which is formed as a natural derivative of insulin-like growth factor-1, is known to cross into the brain. After two weeks of injections, the communication between nerve cells was normal. Moreover, adaptation of nerve cells to stimulation, considered a key part of learning and memory, which is reduced in the mice, is restored following treatment. This indicates that similar approaches might be helpful in children with Shank3 deletions or mutations”.

Another study described today shows that divorce rates are similar for parents with and without children with autism, debunking the myth that families raising children with autism have a higher than average divorce rate.

Parents of autistic children often hear that the divorce rate in families with is 80%, but Brian Freedman of the Kennedy Krieger Institute reported that “there really weren't any significant differences in terms of family structure when you consider children with autism and those without.”  'What we found is that children with autism remained with both biological or adoptive parents 64% of the time, compared with children in families without autism, who remained [with both biological or adoptive parents] 65% of the time.”

In Memoriam
May 16, 2010--All of us at the Autism Science Foundation mourn the loss of Caryn Schwartzman. Caryn was an amazing mother, wife and friend.  She was a trailblazing autism advocate and served as the first walk chair of the inaugural autism walk on Long Island.  Our thoughts are with Caryn’s husband Marty and their children Alison and Robert.  May Caryn’s memory be a blessing.  

SECRETARY SEBELIUS APPOINTS FIVE NEW IACC PUBLIC MEMBERS

Health and Human Services Secretary Kathleen Sebelius has announced the appointment of five new public members to the Interagency Autism Coordinating Committee (IACC), a federal advisory committee created in an effort to accelerate progress in autism spectrum disorder (ASD) research and services.

The committee is composed of a diverse group of federal officials from HHS agencies and the Department of Education, as well as public members that include people with ASD, parents of people with ASD, and leaders of national ASD advocacy and research organizations.  The new members are Dr. Geraldine Dawson of Autism Speaks, Dr. Gerald Fischbach of the Simons Foundation, Ari Ne'eman of the Autistic Self Advocacy Network, Denise Resnick of the Southwest Autism Research and Resource Center (SARRC) and Dr. Marjorie Solomon of the M.I.N.D. Center at UC Davis. Autism Science Foundation co-founder and president Alison Singer also serves as a public member on the IACC, having been appointed in 2007 by then HHS Secretary Michael Leavitt.

In January 2009, the IACC released its first strategic plan for autism research. The IACC released a second edition of its strategic plan in January 2010.

“Today I am pleased to announce new members of the IACC, who will bring additional points of view and expertise to the committee,” Secretary Sebelius said. “I look forward to hearing from the committee members on important matters that affect people with autism and their families as we continue our efforts to address this urgent public health challenge.”

ASDs are a group of developmental disabilities that cause major social, communication and behavioral challenges with symptoms that present before age 3. ASDs affect each person in different ways and can range from very mild to severe. People with ASDs share some similar symptoms, such as problems with social interaction. The Centers for Disease Control and Prevention estimates that an average of 1 in every 110 children in the United States has some form of ASD. 

For more information on the IACC, visit http://www.iacc.hhs.gov/.  The full committee roster is available here.

AUTISM SCIENCE FOUNDATION CELEBRATES FIRST ANNIVERSARY

 

This week, every dollar counts twice!

(April 19, 2010) One year ago today we launched the Autism Science Foundation with the primary goals of supporting great autism research and sharing research findings with clinicians and families. We knew it was time to create an organization that focused completely on science and evidence. And thanks to all of you, our volunteers, our donors and our friends, we are on our way.

In just one short year we are already funding outstanding autism science that has the potential to change the way we think about diagnosing and treating autism.  We have awarded our first round of predoctoral grants in early diagnosis, treatment, epidemiology, and genetics. We are providing scholarships to autism stakeholders, including parents, siblings, medical students and special education teachers, so that they can attend the International Meeting for Autism Research this May and then share what they've learned with others in the broader autism community. Our highly trafficked website provides daily news about the latest autism research to families. We are frequently called upon to participate in major media on autism issues. Our board members and volunteers are actively working with families who have received an autism diagnosis to make sure they find the path to progress.  Our unwavering commitment to evidence-based science has earned us the respect of the American Academy of Pediatrics, the National Institutes of Health and the Centers for Disease Control. 

The Autism Science Foundation offers donors the most effective way to get their contributions to the scientists whose work will make a difference in people's lives. Our organization is extremely lean and efficient, and our costs are remarkably low. We truly make every dollar count. 

And this week, in honor of our anniversary, every dollar will count twice, because a very generous donor has agreed to match every dollar we raise through our first anniversary campaign.

So please click on this link to make your tax deductible donation in honor of our first year.Donate online or mail your donation to:  

Autism Science Foundation
419 Lafayette Street, 2ndfloor
New York, NY 10003  

BANDING TOGETHER FOR AUTISM RAISES FUNDS, AWARENESS FOR AUTISM

Banding Together for Autism was held on Saturday April 10. Guests were treated to outstanding music from The Instant Classic and Rubix Kube, while raising critical funds for autism research. The event was sponsored by the Autism Science Foundation's Young Professionals Committee and hosted by Stefanie Skinner of BravoTV's hit show "Kell on Earth". View photos

AUTISM'S FALSE PROPHETS, BY DR. PAUL OFFIT,             NOW IN PAPERBACK

(April 5, 2010) The award winning “Autism’s False Prophets: Bad Science, Risky Medicine and the Search for a Cure” by Dr. Paul Offit, was released today in paperback. 

Opponents of vaccines have taken the autism story hostage,” Dr. Offit says
. “They don’t speak for all parents of autistic kids, they use fringe scientists and celebrities, they’ve set up cottage industries of false hope, and they’re hurting kids. Parents pay out of their pockets for dangerous treatments, they take out second mortgages to buy hyperbaric oxygen chambers. It’s just unconscionable.”

The paperback edition includes a great new preface by Dr. Offit in which he describes parent reaction to the book. “After publication-an event that I thought would only galvanize those who disliked me-I received hundreds and hundreds of letters and emails from parents of children with autism thanking me. Some had been on the fence and were now convinced by the science presented in the book. But many never believed that vaccines had caused their children’s autism and were angry at those who did. “Jenny McCarthy presumes to represent me,” one mom wrote, “but she doesn’t.”
They were the Silent Majority of autism parents-a group that the media had consistently ignored.” 

If you haven’t read this book yet you need to! And if you have, order a lightweight paperback copy or give one as a gift, because Dr Offit, who serves on ASF’s board of directors, has generously agreed to donate all royalties from this book to the Autism Science Foundation.
  Order yours today! 

IMFAR STAKEHOLDER AWARDS ANNOUNCED

(April 2, 2010) We’re pleased to announce that the Autism Science Foundation has awarded  IMFAR stakeholder travel awards to the following individuals to support their attendance at this year’s International Meeting for Autism Research.  Our thanks to everyone who applied.   We hope to expand this program next year to better match the level of interest. 

Recipients will each receive up to $1000 in expense reimbursement to support attendance at IMFAR.

2010 Recipients:
Christie Buchovecky    PhD Candidate, Baylor College of Medicine
Louise Capps              Parent
Kate & John Fox           Parents
Stephanie Millman      Sibling/Undergraduate, Columbia University
Judy Omidvaran          Parent
James S                       Parent
Jessica Yablow          Special Education Teacher

VACCINE COURT RULES CONNECTION BETWEEN VACCINATION AND AUTISM IS "SCIENTIFICALLY UNSUPPORTABLE"

(March 12) A federal court has ruled that the vaccine additive thimerosal does not cause autism.

The court expressed sympathy for parents coping with their autistic children, but concluded that they had not proved the children's illness was a result of the mercury-containing preservative in the vaccine.

Last year, the same court rejected claims that the autism was caused by a combination of vaccines with thimerosal and other vaccines.

Additional coverage from:
Autism Science Foundation blog
ABC World News Tonight  (includes interview with ASF Board Member Dr. Paul Offit)
USA Today
New York Times
National Public Radio
Reuters
LA Times

CBS Evening News (includes interview with ASF President Alison Singer)

View scientific studies regarding autism and vaccines here

GRANTS AVAILABLE TO SUPPORT IMFAR ATTENDANCE

(February 11, 2010 -- New York, NY) The Autism Science Foundation today announced that is offering a limited number of grants to parents of children with autism and other stakeholders to support attendance at the International Meeting for Autism Research (IMFAR), to be held in Philadelphia, May 20-22, 2010. Awards of up to $1000 can be used to cover registration, travel, accommodations, meals and other directly related expenses, including childcare. After the conference, grant recipients will be expected to share what they've learned with families in their local communities and/or online.  Read more

AUTISM SCIENCE FOUNDATION ANNOUNCES
2010 DOCTORAL TRAINING AWARD RECIPIENTS

(February 8, 2010—New York, NY)--The Autism Science Foundation, a not-for-profit organization founded in April 2009 and dedicated to supporting and funding autism research, announced today that it had awarded doctoral training fellowships to six pre-doctoral students committed to pursuing careers in basic and clinical scientific research relevant to autism spectrum disorders.  In all, $180,000 in grants will be distributed to student/mentor teams conducting research in autism treatment, biomarkers, animal models, and epidemiology.

“We are thrilled to be funding grants after only ten months of fundraising and operations,” said Autism Science Foundation co-founder Karen London.  “Outstanding research is the greatest gift we can offer our families. We are so grateful to all our donors and volunteers who have come together to support autism research.”

“Too much time has been spent looking backwards at the now debunked theory that vaccines caused autism,” said Alison Singer, president of the Autism Science Foundation. “We need to regroup; we need to look forward and invest in discovering biomarkers that can lead to earlier diagnosis, in animal models that can illuminate biological pathways, and in treatments that target the most debilitating aspects of autism. This round of grants is aimed in that direction.”

Grant applications were reviewed by members of the Autism Science Foundation’s Scientific Advisory Board (SAB) as well as by outside scientific experts in specific subject areas. Grants were also reviewed by ASF’s Stakeholder Review Committee, comprised of parents, individuals with autism, a special education teacher and other stakeholders.

The following projects were selected for funding (student/mentor):

  • Sarita Austin/Dr. Rhea Paul; Yale Child Study Center:  
    Enhancing Understanding and Use of Conversational Rules in School-Aged Speakers with Autism Spectrum Disorder
  • Karen Burner/Dr. Sara Jane Webb; University of Washington, Seattle:
    Observational and Electrophysiological Assessments of Temperament in Infants at Risk for Autism Spectrum Disorders
  • Rhonda Charles/Dr. Joseph Buxbaum; Mount Sinai School of Medicine:
    A Preclinical Model for Determining the Role of AVPR1A in Autism Spectrum Disorders
  • Sarah Hannigen/Dr. Mark Strauss; University of Pittsburgh:
    Defining High and Low Risk Expression of Emotion in Infants at Risk for Autism
  • Matthew Maenner/Dr. Maureen Durkin; University of Wisconsin, Madison:
    Phenotypic Heterogeneity and Early Identification of ASD in the United States
  • Michael Sidorov/Dr. Mark Bear; MIT:
    Investigation of Postnatal Drug Intervention’s Potential in Rescuing the Symptoms of Fragile X Syndrome in Adult Mice

Learn more about Autism Science Foundation's Grant Program

The Lancet Retracts Landmark MMR/Autism Paper

(Feb 2, 2010) The medical journal which originally published the research linking autism and MMR vaccine has now issued a full retraction of the paper. The Lancet says claims made by the researchers were "false". It comes after Dr Andrew Wakefield, the lead researcher in the 1998 paper, was ruled last week to have broken research rules by the General Medical Council. The publication caused vaccination rates to plummet, resulting in a rise in measles.

Read more at CNN.com
Read Autism Science Foundation president Alison Singer's Op/Ed about the Lancet retraction,"Time to Regroup on Autism"  on CNN.com

GMC Ruling: Wakefield Acted Dishonestly and was Misleading, Irresponsible in the way he described Autism/MMR research

From the UK Daily Mail: The doctor at the center of the MMR controversy faces being struck off after the General Medical Council today ruled he 'failed in his duties as a responsible consultant',  and went against the interests of children in his care. Dr Andrew Wakefield - who believed he had uncovered a link between the jab and bowel disease and autism - was told he 'acted dishonestly' and had been misleading in the way he described his research, which was published in The Lancet in 1998.
Read more

Evidence Lacking for Special Diets in Autism

An expert panel says there's no rigorous evidence that digestive problems are more common in children with autism compared to other children, or that special diets work, contrary to claims by celebrities and vaccine naysayers.

Read more in the New York Times.
Read the full report in Pediatrics

What an Amazing First Year!

During this season of joy and giving, we wanted to thank you for the support and friendship you've shown the Autism Science Foundation. The Autism Science Foundation was established last April with the primary goals of supporting great autism research, and sharing research findings with clinicians and families. It was time to create an organization that focused completely on science and evidence.

Click here to make an online year-end donation today

Thanks to the generosity of so many of you, we are on our way toward funding the science that will help us understand what causes autism and develop new, effective treatments for people of all ages. There is a long road ahead, but this is a critical time for autism research and your support now will help accelerate the pace of this important work. The Autism Science Foundation offers donors the most effective way to get their contributions to the scientists whose work will make a difference in people's lives. Our organization is extremely lean and efficient, and our costs are remarkably low. We truly make every dollar count.

We have accomplished so much in the eight months since our launch! Our first round of grant proposals exceeded our expectations and our Scientific Advisory Board is now hard at work reviewing them all. We can't wait to make our first funding announcements next  February. Our website provides daily news about the latest autism research to families, and our board members and volunteers are actively working with families who have received an autism diagnosis to make sure they find the path to progress.  Our unwavering commitment to evidenced-based science  has earned us the respect of the American Academy of Pediatrics, the American Academy of Family Physicians, the National Institutes of Health and the Centers for Disease Control.

We are so grateful to all of our donors and volunteers.  We couldn't have come this far so fast without you. But there is so much more we need to do. We hope we can fund every worthy proposal we received and need your continued support to be able to do so. As an organization and a community, we aspire to fund all the research our children deserve.

Please consider a year-end gift to support the Autism Science Foundation. We are a 501c3 non-profit corporation and donations are deductible to the full extent permitted by law.

To make a donation, please click on this link or mail your donation to:
Autism Science Foundation
3 Continental Road
Scarsdale NY 10583.

Thank you so much for supporting the autism community with the gifts of hope and science. 

Wishing you a warm and wonderful holiday season,
Alison Singer and Karen London
Co-founders, Autism Science Foundation

Recent News

  • Chicago Tribune Publishes Multi-Part Series Exposing Dangers of Non Evidence Based Autism Treatments
  • Risky Treatments Have No Basis in Science
  • Researchers Say Their Data were Hijacked to Support Alternative Treatments
  • Dangerous Treatments Amount to "Uncontrolled Experimentation" on Children

Click here to read these stories

Autism Science Foundation Agrees with Decision to Keep Vaccine Research Out of the IACC Autism Plan

(November 11, 2009—New York, NY) Autism Science Foundation President and Interagency Autism Coordinating Committee member Alison Singer joined her colleagues on the IACC in voting to eliminate references in the autism strategic plan that could imply that vaccines cause autism or that call for additional vaccine research.  "Draft materials submitted to the IACC suggesting vaccines and/or vaccine components were implicated in autism were rejected by the committee because the IACC determined that they were not based on good science," said Singer.  In addition, the two research objectives proposed that specifically called for additional vaccine research were not approved.   
 
Two initiatives in the plan, one old and one new, could allow for vaccines to be studied as part of larger environmental initiatives if circumstances warranted.  First, the IACC voted to retain language from the 2009 plan calling for studies of environmental exposures outlined in the 2007 IOM report "Autism and the Environment", which could include vaccines. The IACC also voted unanimously to add a new objective to study whether or not there are certain subpopulations that are more susceptible to environmental exposures such as immune challenges (including naturally occurring infection, vaccines, and/or immune disorders). 
 
"More than a dozen studies indicate that neither vaccines nor any specific ingredients in vaccines cause autism.  The IACC affirmed that there is no reason to call out vaccines as a specific area worthy of further study in relation to autism," said Singer.  "Vaccine safety research is an ongoing process at the CDC.  If some new science were uncovered that brought vaccines into question, then new studies could be done under the auspices of this strategic plan. But there is nothing in the plan that specifically calls for additional vaccine research because there are no data implicating vaccines as a possible cause of autism. While research on environmental factors is important, it makes little sense to pursue a specific study of vaccines, the one environmental factor that science has already ruled out."  
 
Singer added that some groups seem to be misinterpreting the inclusion of the word “vaccines” in the list of examples of immune challenges as a mandate for vaccine research, and have issued misleading statements. “Based on the votes taken yesterday, the IACC was clear in its position about autism and vaccines.  But if there is public confusion about this new research objective then I will try to make sure we clarify it at our next meeting,” Singer said. The IACC will continue its work on the plan at a meeting on December 11, 2009 with the goal of finalizing the revised plan by January, 2010.
 
Singer was appointed to the IACC in 2007 by HHS Secretary Michael Leavitt. 

NIH Awards More than 50 Grants to Boost Search for Causes, Improve Treatments for Autism
Recovery Act Funds Support Strategic Goals
for Autism Research

(Nov 4, 2009) The National Institute of Health has awarded more than 50 autism research grants, totaling more than $65 million, which will be supported with American Recovery and Reinvestment Act funds. These grants are the result of the largest funding opportunity for research on autism spectrum disorders (ASD) to date announced in March 2009.

Awards were based on the quality of the proposed study and how well it addressed short-term research objectives detailed in the Interagency Autism Coordinating Committee's (IACC's) Strategic Plan for Autism Spectrum Disorder Research.

"These studies currently hold the best promise of revealing what causes autism, how it might be prevented, what treatments are effective, and how service needs change across the lifespan — questions noted in the IACC strategic plan as critically important to improving the lives of people with ASD and their families. The Recovery Act funding makes it possible to do the type of innovative research necessary to find these answers more quickly," said Thomas R. Insel, M.D., director of the National Institute of Mental Health (NIMH), part of NIH, and IACC chair. 

Read examples of grants funded here

For older news, visit the archive.

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