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MSSNG study expands understanding of autism’s complex genetics

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>Largest-ever whole genome autism study yields clues on how autism-linked gene changes arise in sperm, eggs and embryos.

Largest-ever whole genome autism study yields clues on how autism-linked gene changes arise in sperm, eggs and embryos

August 04, 2016
 
A new study out of Autism Speaks’ MSSNG program expands understanding of autism’s complex causes and may hold clues for the future development of targeted and tailored treatments.
 
Learn more about MSSNG, Autism Speaks’ historic whole genome sequencing project here.
 
The new research focuses on newly arising, or de novo, gene changes in the germline cells that produce a parent’s eggs or sperm. Previous studies have shown that these mutations can be major contributors to autism through their effects on early brain development.
 
The report, appearing in npj Genomic Medicine, is the largest-ever whole genome study of autism, involving 200 children with the condition and both their unaffected parents.
 
These 600 fully sequenced genomes came from MSSNG (pronounced “missing”), the world’s largest collection of autism genomes and a collaborative effort of Autism Speaks and The Hospital for Sick Children (SickKids), in Toronto. More than halfway to its goal of sequencingmore than 10,000 autism genomes, MSSNG has made this unprecedented resource freely available for worldwide research into the causes and personalized treatments for autism.
 
Geneticists Stephen Scherer and Ryan Yuen, of SickKids, led the study team, which also included scientists with the University of Toronto, Google, BGI-Shenzhen (China) and Autism Speaks.
 
In their analysis, the researchers found:
 

* An abundance of autism-linked changes in DNA outside of the gene-coding regions of the genome. Traditional genetic testing largely ignores the non-coding regions of the genome – which make up 98 percent of our DNA. Coding DNA spells out our genes. Non coding DNA had long been considered “junk,” with no known function. Geneticists now appreciate that it helps regulate the activity of our genes. This regulation is particularly crucial for healthy brain development, which involves genes turning on and off at precisely the right times. This represents the most comprehensive assessment to date on the contribution of non-coding variants to autism,” Dr. Yuen says. “As such, it provides an important road map on how whole genome sequencing can advance autism research in the future.”

 
* A clear difference between the de novo mutations that come from the mother versus the father. The study confirmed previous findings that most autism-linked de novo mutations come from the father and tend to increase with his age.
 
However, the researchers also found that clustered, or concentrated, stretches of de novo mutations tend to come from the mother. “This new finding may be evidence that different types of gene-change and gene-repair mechanisms are at work in men versus women,” Dr.Yuen says. Indeed, the clustered mutations from the mother tended to occur near stretches of deleted or repeated DNA called copy number variations (CNVs) – a type of mutation that the research team had previously linked to autism.
 
In addition to genetic changes in egg and sperm, the analysis turned up autism-associated mutations that likely occurred in the embryo soon after fertilization. “These genetic changes can arise due to environmental insults [such as exposure to toxic chemicals],” Dr. Yuen says.
 
* A new way to explore epigenetic risk factors for autism. The team also developed new methods to look at changes in the epigenetic control of gene expression. Epigenetics is the study of proteins that wrap around our DNA to help regulate gene activity. These epigenetic controls can be disrupted by some – perhaps many – of the environmental influences suspected of increasing autism risk. Examples include exposure to certain pollutants, nutritional deficiencies and inflammation during pregnancy. Using their new test, the researchers found significantly disrupted epigenetic patterns in just over 1 percent of the genomes they analyzed.

To learn more, see “What is epigenetics and what does it have to do with autism.”

* A cascade effect, with one altered gene affecting the expression of many other genes involved in brain development.“Using new statistical methods and the whole genome sequence as a framework, we found genes with mutations that led to a cascade of changes in gene expression,” Dr. Yuen says. This may help explain how the hundreds of rare gene changes associated with autism may converge to affect a few vital pathways in early brain development, he notes.

“These findings advance our efforts to improve diagnostics and precision healthcare for autism,” says geneticist Mathew Pletcher, Autism Speaks interim chief science officer and a co-author on the report. “There’s so much about the causes of autism that we would miss if we focused only on the gene-coding regions of the genome. This demonstrates again why whole genome sequencing is so important.”
 
“These findings represent a step toward better understanding the interplay between the genetic and non-genetic factors that contribute to autism risk,” Dr. Scherer adds. “But we need to analyze many more whole genomes – such as the number being sequenced through MSSNG – to fully understand these intriguing findings.” Dr. Scherer is project director for the Autism Speaks MSSNG program and directs the Centre for Applied Genomics at Toronto’s Sick Children’s Hospital.
 
Dr. Yuen’s research was supported by an Autism Speaks Meixner Postdoctoral Fellowship in Translational Research. Read more about Autism Speaks research fellowships here.
 

 


Unraveling the mystery of autism: one person at a time

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Newsweek spotlights revolutionary research on the genetics that make each person’s autism unique – with a special nod to Autism Speaks MSSNG project

Newsweek spotlights revolutionary research on the genetics that make each person’s autism unique – with a special nod to Autism Speaks MSSNG project

August 11, 2016

“If you’ve seen one person with autism, you’ve seen one person with autism.” So begins Newsweek science writer Aimee Swartz’s in-depth look at a new wave of research into autism’s complex genetics with the aim of developing more personalized treatments.

Unraveling the mystery of autism: one person at a time” shines a spotlight on the Autism Speaks MSSNG (pronounced “missing”) project and the Simons Foundation’s SPARK project. Autism Speaks is also supporting SPARK through recruitment efforts at ten of its 14 Autism Treatment Network (ATN) sites and at many of its major Walks.

Ms. Swartz writes:

MSSNG goes beyond SPARK’s plan of sequencing the exome—it will look at all 3.2 billion letters of genetic code in the human genome to get a more “holistic” view of the genetic underpinnings of autism, says Mathew Pletcher, interim chief scientific officer at Autism Speaks.

With more than 5,000 [now 7,000] genomes already fully sequenced, the MSSNG data set has allowed scientists to discover new parts of the genome involved in autism that were previously missed, using techniques that look at only parts of the DNA. “It also revealed that the disorder’s genetic underpinnings are way more complex than previously thought,” Pletcher says.

Read the full Newsweek feature story here

Diabetes drug counters weight gain associated with autism medicines

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Study offers hope for children and teens who struggle with common a side effect of medications for reducing autism-associated agitation

Study offers hope for children and teens who struggle with a common side effect of medications for reducing autism-associated agitation

August 29, 2016

In a small new study, a commonly used diabetes drug curbed the troublesome weight gain that is a common side effect of the only two medicines approved for reducing agitation in children and teens with autism.

The promising results of the study– which took place at four centers in the Autism Speaks Autism Treatment Network (ATN) – appear in the latest issue of JAMA Psychiatry. The research was made possible by the ATN’s federally funded role as the nation’s Autism Intervention Research Network for Physical Health.

Risperidone (brand name Risperdal) and aripiprazole (Abilify) are the only medicines approved by the U.S. Food and Drug Administration for reducing agitation and irritability in children with autism spectrum disorder (ASD). These medicines become important when serious agitation – including aggression – does not respond to non-drug, behavioral therapy. However, both risperidone and aripiprazole commonly produce significant weight gain – a worrisome side effect given obesity’s many associated health risks.

Controlling a serious side effect of autism medications
"It's critically important that we investigate new ways to support healthy outcomes as early as possible for those who are on these medications," says pediatric neurologist Evdokia Anagnostou, the study’s principal investigator and co-director of the Autism Speaks ATN at Toronto’s Holland Bloorview Kids Rehabilitation Hospital. "Use of antipsychotics to help manage irritability associated with ASD can sometimes be long­-term, which means we need to provide families with solutions that support lasting optimal health in their children," she emphasizes.

Over the course of 16 weeks, the researchers tracked changes in body mass and performed blood work on 60 study participants, ages 6 to 17. Twenty-eight of the children and teens took the diabetes drug metformin in addition to their usual dose of risperidone or aripiprazole. The rest took an inactive placebo pill along with their behavioral medicines. Neither the researchers nor the participating families knew who received the metformin and who received the dummy treatment until the end of the study.

A clear difference in weight control
As a group, those taking the placebo continued to gain weight over the course of the trial. By contrast, the group taking metformin saw an overall reduction in weight. Most remarkably, three participants taking metformin experienced an 8 to 9 percent decrease in body mass. The researchers saw no changes in obesity-associated metabolic measures such as insulin sensitivity and cholesterol. The 16-week study period may not have been long enough to detect such health benefits, they write.

Overall, the metformin was “well-tolerated,” the researchers report. However, as a group, those taking metformin had more days of gastrointestinal issues such as constipation and diarrhea than did those taking the placebo. (This side effect was not associated with individual weight loss.) In addition, the researchers discontinued metformin in five children because of increased agitation or sedation that may or may not have been caused by the drug.

Given the promising results of this small pilot study, the researchers call for follow-up studies enrolling more children for longer periods.

“Medications such as risperidone and aripiprazole are appropriate only for severe behavioral problems when non-drug approaches have not been adequate,” adds developmental pediatrician Paul Wang, Autism Speaks’ head of medical research. “It’s good to know that metformin has the potential to help manage the weight gain that often accompanies these medications.” (Dr. Wang was not directly involved in the study.)

The Autism Speaks ATN centers participating in the study included the Holland Bloorview Kids Rehabilitation Hospital, in Toronto; Ohio State University Wexner Medical Center and Nationwide Children’s Hospital, in Columbus; the University of Pittsburgh; and Vanderbilt University, in Nashville.

For more on this study, see the video below, courtesy The Ohio State University Wexner Medical Center.

 

 

* Learn more about the Autism Speaks Autism Treatment Network here.
* Find the ATN center nearest you 
here.
* Explore our archive of ATN expert-advice blogs and news stories 
here.

Podcast on including the minimally verbal in autism research

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Autism Speaks-funded researcher Helen Tager-Flusberg describes ways to broaden autism research to include a neglected population

Autism Speaks-funded researcher Helen Tager-Flusberg describes ways to broaden autism research to include a neglected population

September 06, 2016

In this month’s Autism Matters podcast, host Laura Crane interviews Autism Speaks-funded researcher Helen Tager-Flusberg about innovative ways to include nonverbal and minimally verbal children and adults in autism research.

“In part [this is] because of the challenging behaviors they present alongside their very limited means for communication,” Dr. Tager-Flusberg writes in this month’s issue of Autism.

In the podcast and its related article, Dr. Tager-Flusberg discusses some of the methods she has successfully used to include this often-neglected group in her studies. She also discusses some of the advances in understanding autism that have resulted from involving those who have little or no language.  

* Listen to the podcast here:

* Read about Dr. Tager-Flusberg’s Autism Speaks funded research and fellowships here.

* Learn more about the Autism Matters podcast series – and listen to past podcasts here.

Also see “Autism Speaks (and signs)

 

You’re invited: Free webinar on autism and epilepsy

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Sponsored by Autism BrainNet, the world’s largest repository of postmortem brain tissue for autism research

September 22, 2016

Autism BrainNet invites the Autism Speaks community to attend a free webinar: “Epilepsy and Autism Seen through the Brain,” on Friday, Oct. 14, from noon to 1 pm Eastern.

An estimated one third of people with autism also have epilepsy. The potentially dangerous seizures are not always obvious without testing.

The webinar will feature behavioral child neurologist Shafli Spurling Jeste, of the UCLA Geffen School of Medicine, and neuroimmunologist David Menassa, of the University of Oxford. Dr. Jeste will discuss medical issues affecting children with autism and epilepsy. Dr. Menassa will discuss his research investigating how inflammatory cells in the brain may influence the development of both disorders.

To register for the free webinar, click here.

Autism BrainNet is dedicated to advancing the highest quality research on autism through the generous post-mortem donation of brain tissue from families affected by the disorder. To learn more about the program – including information about registering your family – click here.

 

You’re invited: Oct 26 meeting of the Interagency Autism Coordinating Committee

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Make your views known in person or in writing; watch the live webcast as IACC addresses national priorities in autism research and services

Make your views known in person or in writing; watch the live webcast as IACC addresses national priorities in autism research and services

October 10, 2016


The federal Interagency Autism Coordinating Committee (IACC) invites the autism community to participate in its next quarterly meeting – Wednesday, October 26, from 9 to 5 Eastern, at the National Institutes of Health, in Bethesda, Maryland. The meeting will also be available via live webcast.

Read the full meeting agenda here.

Join remotely by live webcast or conference call here.

Under the mandate of the Autism CARES Act, the IACC coordinates all autism research and service activities within the US Department of Health and Human Services. It is charged with ensuring that a wide range of ideas and perspectives are considered and discussed in a public forum.

Interested in presenting comments at the July meeting or sending written comments on an issue important to you? Send them to iaccpublicinquiries@mail.nih.gov. The deadline to register to give in-person comments is 5 pm ET October 12, with submission of a written copy of remarks by 5 pm ET October 18. Submission of written comments for distribution to IACC members is likewise 5 pm ET October 18.

For more information, also visit the IACC Events page.

View past IACC meetings and their agenda’s here.

Read Autism Speaks coverage of past IACC meetings here

Folinic acid improves communication, eases autism symptoms in small study

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Benefit greatest in kids who have antibody that might block vitamin’s transport into brain cells – a potential indicator of who will respond to treatment

Benefit greatest in kids who have antibody that might block vitamin’s transport into brain cells – a potential indicator of who will respond to treatment

October 18, 2016

In a small pilot study funded by Autism Speaks, treatment with folinic acid – a naturally occurring form of folate – improved communication and eased autism symptoms in language-impaired children who have autism. The gains were greatest in a subgroup of children who tested positive for an autoantibody that may partially block this vitamin from entering brain cells.

Folinic acid is a more metabolically active form of folate (also known as B9) than is folic acid, the synthetic form of folate found in many prenatal and children’s vitamins.

The findings appear today in the scientific journal Molecular Psychiatry.

“Though caution is needed with any small study, we hope these results will lead to the kind of large trial needed to fully validate a promising experimental treatment for a subset of individuals with autism,” comments Autism Speaks Interim Chief Science Officer Mathew Pletcher. “If confirmed by further research, this would exemplify the promise of personalizing treatments for autism’s many causes and subtypes.”

In the study, the researchers randomly selected 48 nonverbal or minimally verbal children with autism (average age 7 years) to take either two daily doses of folinic acid (up to 50 mg per day depending on body weight) or a look-alike dummy pill. Folinic acid occurs naturally in many foods (lentils, liver and many green vegetables), but at much lower levels.

Neither the researchers, the children nor their families knew who received the actual treatment (23 children) and who received the placebo (25 children) until after the 12-week trial concluded. Before and after the trial, the researchers administered standardized tests to measure verbal communication and behavioral symptoms of autism.

As a group, the children who took the folinic acid showed greater improvements in both verbal communication and behavioral symptom severity. However, the improvements were significantly greater among a subset of ten children in the folinic acid group who tested positive for an autoantibody. According to the researchers' theory, the antibody may interfere with the transport of the nutrient into brain cells.

The researchers propose that high doses of folinic acid helped improve brain function by overcoming this blockade and restoring normal folate levels inside brain cells. The theory is based on previous research by the group, which detected this folate-blocking autoantibody in 60 percent of children who have autism, but just 3 percent of children with developmental delays that do not involve autism.

The findings are also in line with a large body of research, by other scientists, showing that women who take prenatal vitamins containing folate have a lower risk of having children affected by autism.

“These observations suggest that identifying autism and the presence of folate receptor autoantibodies early in life may present an opportunity to prevent at least some of autism’s developmental deficits with folinic acid treatment,” says senior researcher Edward Quadros, of the State University of New York Downstate Medical Center. Before such treatment can be recommended, larger studies are needed to confirm safety and effectiveness. 

MSSNG in the news: ‘Study aims to crack autism code’

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CBC’s The National spotlights MSSNG researchers and families – sharing hopes for global and personal solutions

CBC’s The National spotlights MSSNG researchers and families – sharing hopes for global and personal solutions

October 27, 2016

 

 

This week, The National – the nightly news program of Canada’s CBC network – spotlights the Autism Speaks MSSNG project, the world’s largest open-access genomic database on autism. MSSNG is producing ground-breaking discoveries into the causes and biology of autism, while providing meaningful information for families.

In the 15-minute segment – “Study Aims to Crack Autism Code” – we meet two families profoundly affected by their participation in MSSNG. They describe how the results of their genome sequencing give them perspective and hope for their children’s future.

The segment also features geneticists Mat Pletcher, Autism Speaks’ interim chief science officer and vice president for genomic discovery, and Steve Scherer, MSSNG research director and head of the Centre for Applied Genomics at the Hospital for Sick Children, in Toronto.

Learn more about MSSNG here


MSSNG Supporters

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Autism Speaks is immensely grateful for the supporters, who have made this cutting-edge research a reality.

Autism Speaks is immensely grateful for the supporters, who have made this cutting-edge research a reality.

December 01, 2016

MSSNG is made possible by donors who understand the promise of investing in the breakthroughs of tomorrow, today. Autism Speaks thanks our sponsors for being visionaries in support of the autism community.

Autism Speaks is immensely grateful for the supporters, who have made this cutting-edge research a reality.

  • Frank Benneck
  • Bloomberg Philanthropies
  • Carbonell Family Foundation
  • Barry Cohen
  • Cuong Do
  • Barry Feirstein
  • Vincent Forlenza
  • Thomas Garfinkel
  • The Gordon and Llura Gund Foundation
  • The Hearst Foundation
  • Matt Higgins
  • The Homestead Foundation, Inc.
  • Allen Jefferson
  • Mel Karmazin
  • Brian Kelly
  • KRG Children's Charity
  • The Albert & Tammy Latner Family Foundation
  • Leonard & Judy Lauder Fund
  • Daniel Lewis
  • Charles Lorimer
  • Michael Lukacs
  • Gary Mayerson
  • Michael Moser
  • NFP Canada
  • Reuter Foundation
  • Stuart Savitz
  • David & Allison Scharf
  • Henry J & Kathleen Singer Family Foundation
  • AJ Vaynerchuk
  • Stephen and Diane Volk
  • Wasily Family Foundation
  • Bob Wright

Join as a MSSNG supporter today

Thomas Frazier to join Autism Speaks as Chief Science Officer

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Renowned clinical psychologist and autism researcher to lead science program focused on life-enhancing research with real-world benefits

Renowned clinical psychologist and autism researcher to lead science program focused on life-enhancing research with real-world benefits

January 19, 2017

Autism Speaks is pleased to announce that clinical psychologist and autism researcher Thomas Frazier II, PhD, is joining the organization as its chief science officer effective April 1, 2017.

Dr. Frazier comes to Autism Speaks from Cleveland Clinic Children's, where he has directed its Center for Autism since 2013. Previously, he was the autism center’s research director.

Dr. Frazier’s clinical interests include the assessment and behavioral treatment of children with autism spectrum disorder. His research includes pioneering work on the potential under-diagnosis of autism in girls and women, and the development of new and more-effective screening methods for identifying autism risk in babies.

Dr. Frazier has published more than 100 research articles in peer-reviewed journals and presented more than 150 scientific abstracts and invited talks at national and international research conferences. Among the most recent of his many awards is a National Institute of Health Career Developmental Award supporting his multidisciplinary clinical research on the biological effects of autism-linked gene changes.

Dr. Frazier is also the father of a son on the autism spectrum.

“I am excited to join Autism Speaks as chief science officer,” said Dr. Frazier. “As a parent and researcher, I have valued Autism Speaks since its inception as a driving force in advocacy and science for the autism community. I look forward to advancing research that will increase understanding of autism’s causes, improve screening and diagnosis and develop effective interventions.”

“With a career at the forefront of autism care and research, Dr. Frazier is uniquely suited to guide Autism Speaks as it embarks on its second decade with a powerful focus on life enhancing research with real world benefits,” said Angela Geiger, president and CEO of Autism Speaks.

Dr. Frazier received his undergraduate degree magna cum laude in psychology from John Carroll University, in University Heights, Ohio, and completed both his master’s and doctoral degrees in clinical psychology at Case Western Reserve University. His postgraduate training includes an internship in clinical neuropsychology at Ann Arbor VA Medical Center and a fellowship in clinical neuropsychology at The Cleveland Clinic’s Department of Psychiatry and Psychology, Section of Neuropsychology.

World’s largest autism genome database shines new light on many ‘autisms’

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Latest study from the Autism Speaks MSSNG program identifies 18 new autism-linked genes, deepening understanding of autism’s broad spectrum

Latest study from the Autism Speaks MSSNG program identifies 18 new autism-linked genes, deepening understanding of autism’s broad spectrum

March 06, 2017

Eighty percent of the 61 gene variations discovered through MSSNG to date affect biochemical pathways that have clear potential as targets for future medicines

The newest study out of the Autism Speaks MSSNG project– the world’s largest autism genome sequencing program – identified an additional 18 gene variations that appear to increase the risk of autism. The new report appears this week in the journal Nature Neuroscience. It involved the analysis of 5,205 whole genomes from families affected by autism – making it the largest whole genome study of autism to date.

The omitted letters in MSSNG (pronounced "missing") represent the missing information about autism that the research program seeks to deliver.

“It’s noteworthy that we’re still finding new autism genes, let alone 18 of them, after a decade of intense focus,” says study co-author Mathew Pletcher, Ph.D., Autism Speaks’ vice president for genomic discovery. “With each new gene discovery, we’re able to explain more cases of autism, each with its own set of behavioral effects and many with associated medical concerns.”

Identifying subtypes to advance personalized treatment

To date, research using the MSSNG genomic database has identified 61 genetic variations that affect autism risk. The research has associated several of these with additional medical conditions that often accompany autism. The goal, Dr. Pletcher says, “is to advance personalized treatments for autism by deepening our understanding of the condition’s many subtypes.”

The findings also illustrate how whole genome sequencing can guide medical care today. For example, at least two of the autism-associated gene changes described in the new paper are also associated with seizures. Another has been linked to increased risk for cardiac defects, and yet another with adult diabetes. These findings illustrate how whole genome sequencing for autism can provide additional medical guidance to individuals, families and their physicians, the investigators say.

Many genes; a few key pathways
The researchers also determined that many of the 18 newly identified autism genes affect the operation of a small subset of biological pathways in the brain. All of these pathways affect how brain cells develop and communicate with each other. "In all, 80 percent of the 61 gene variations discovered through MSSNG affect biochemical pathways that have clear potential as targets for future medicines, Dr. Pletcher adds.

Increasingly, autism researchers are predicting that more-effective, personalized treatments will come from understanding these common brain pathways – and how different gene variations alter them.

Not one autism, but many

“The unprecedented MSSNG database is enabling research into the many ‘autisms’ that make up the autism spectrum,” says the study’s senior investigator, Stephen Scherer, Ph.D.

For instance, some of the genetic alterations found in the study occurred in families with one person severely affected by autism and others on the milder end of the spectrum, Dr. Scherer notes. “This reinforces the significant neurodiversity involved in this complex condition,” he explains. “In addition, the depth of the MSSNG database allowed us to identify resilient individuals who carry autism-associated gene variations without developing autism. We believe that this, too, is an important part of the neurodiversity story.”

Dr. Scherer is the research director for the MSSNG project and directs The Centre for Applied Genomics at the Hospital for Sick Children (SickKids), in Toronto. MSSNG is a collaboration between the hospital, Autism Speaks and Verily (formerly Google Life Sciences), which hosts the MSSNG database on its cloud platform.

Beyond traditional genetics
Traditional genetic analysis looks for mutations, or “spelling changes,” in the 1 percent of our DNA that spells out our genes. By contrast, the MSSNG database allows researchers to analyze the entire 3 billion DNA base pairs that make up each person’s genome.

In their new study, the investigators went even further – looking beyond DNA “spelling” variations to find other types of genetic changes associated with autism. These included copy number variations (repeated or deleted stretches of DNA) and chromosomal abnormalities. Chromosomes are the threadlike cell structures that package and organize our genes.

The researchers found copy number variations and chromosomal abnormalities to be particularly common in the genomes of people affected by autism.

In addition, many of the copy number variations turned up in areas of the genome once considered “junk DNA.” Though this genetic “dark matter” exists outside of our genes, scientists now appreciate that it helps control when and where our genes switch on and off. The precise coordination of genetic activity appears to be particularly crucial to brain development and function.

An unprecedented resource
Through its research platform on the Google Cloud, Autism Speaks is making all of MSSNG’s fully sequenced genomes directly available to researchers free of charge, along with a toolbox of analytic tools. In the coming weeks, the MSSNG team will be uploading an additional 2,000 fully sequenced autism genomes, bringing the total to over 7,000.

Currently, more than 90 investigators at 40 academic and medical institutions are using the MSSNG database to advance autism research around the world.

Autism Speaks is also funding the creation of a community portal that will allow study participants to explore their genomic information and share experiences with others who have similar genetic profiles. 

For more about the MSSNG, visit www.mss.ng

Populations in movement: Addressing the needs of migrants with autism

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In recognition of World Autism Awareness Day, United Nations panel discusses challenges and solutions to providing services to refugees and other migrants

In recognition of World Autism Awareness Day, United Nations panel discusses challenges and solutions to providing services to refugees and other migrants

March 31, 2017


In recognition of World Autism Awareness Day 2017, a panel of international leaders convened at the United Nations Headquarters in New York City to discuss challenges and opportunities for the delivery of care and services to migrants with autism and other developmental disabilities. The event’s co-hosts included the permanent UN missions of Qatar, Bangladesh, China, India and Turkey, together with Autism Speaks.

Held annually at the UN headquarters, the event brings together international leaders to develop solutions for the most-pressing issues facing the global autism community. This year’s panel focused on the largely unmet need for autism services and supports in an increasingly mobile world – with more individuals and families moving in search of security and opportunities than ever before.

Moderated by CBS News foreign affairs analyst Pamela Falk, the panelists included:

Werner Obermeyer, deputy to the executive director of the World Health Organization (WHO) Office at the United Nations;

Suzanne Sheldon, senior advisor and team leader for the Global Compact on Migration, International Organization for Migration to the UN;

Donald Wertlieb, of the Tufts University department of child development and coordinator of the Early Childhood Development Task Force for the Global Partnership for Children with Disabilities and the United Nations International Children's Emergency Fund; and

Melissa Diamond, founder of a Global Voice for Autism.

Zsuzsanna Szilvasy, president of Autism Europe.

The organizers will summarize the panel’s recommendations in a consensus document that they will share with all UN member states and post on the Autism Speaks website when completed.

View the archived video of the panel discussion – “Populations in Movement: Addressing the Opportunities and Challenges to Ensure Care and Services to Migrants with Autism and Developmental Disabilities” –
at UN Web TV.
(Scroll down the page to “Recent On-Demand Videos.)

Autism and the transition to adult healthcare: Guidelines for lifelong care

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Parents of teenager with autism and complex medical needs seek guidance for the transition from pediatric to adult healthcare

Parents of teenager with autism and complex medical needs seek guidance for the transition from pediatric to adult healthcare

April 20, 2017


Our teenage son, who has autism, will soon be aging out of the pediatric practice where he has a medical team coordinating care for a number of medical issues. As we start planning his transition to adulthood, we’re wondering whether there are medical guidelines for the lifelong care of individuals with autism.

 
Today’s “Got Questions?” response is from developmental pediatrician Daniel Coury, medical director of Autism Speaks Autism Treatment Network (ATN). Dr. Coury is also the chief of developmental-behavioral pediatrics at Nationwide Children’s Hospital, in Columbus, Ohio.

Thank you for your very important question. Too many young adults with autism fall off the map, so to speak, in the transition from pediatric to adult healthcare. Within the Autism Speaks Autism Treatment Network (ATN), we’re working hard to help families prepare for this transition, beginning in adolescence.

I’m happy to report that one of our centers – the Vanderbilt Kennedy Center, in Nashville – has taken the lead in developing the kind of guidelines you seek.

Vanderbilt's online guidelines for healthcare providers
Health Care for Adults with Developmental Disabilities is an online tool kit for primary-care physicians. Importantly, it contains a healthcare “Checklist for Autism.” This checklist guides the physician through autism-specific considerations and recommendations for medical issues including sleep, dental health; gastrointestinal health, sexuality, mental health and much more.

The “considerations” section of the checklist highlights physical and mental health conditions that frequently co-occur with autism. The “recommendations” section lists useful exams and tests with their suggested frequency.

When it’s time for your son to transition out of pediatric care, we suggest that you bring this checklist to his new primary care doctor. What’s more, the recommendations aren’t limited to adults. They likewise include guidance on pediatric healthcare. So you may want to share it with your son’s current medical team as well.

If your son’s new doctors have little experience with autism, you might likewise share the Vanderbilt tool kit’s section on “Communicating Effectively” with patients who have developmental disabilities.

ATN/AIR-P treatment guidelines
Not coincidentally, many of the guidelines in the Vanderbilt tool kit’s “Autism Checklist” are based on best-practices developed by clinicians in the ATN. This work has been made possible by the ATN’s role as the federally funded Autism Intervention Research Network on Physical Health (AIR-P).

Last year, the journal Pediatrics published a number of our best-practices research reports in a special supplement. You can access the entire supplement – or direct your son’s physicians to it – here.

We look forward to the day when we have Autism Centers of Excellence for adult healthcare modeled after the ATN’s pediatric care centers. Until then, our clinicians continue to educate community physicians on the special healthcare and communication needs of individuals with autism throughout their lifespan.

We wish you and your family the best. Please contact us again to tell us how your son is doing.


* Learn more about the Autism Speaks Autism Treatment Network here.

* Find the ATN center nearest you 

here.

* Explore our archive of ATN expert-advice blogs and news stories 

here.

Got more questions? Send them to GotQuestions@autismspeaks.org. 
 

Autism and Health: A Special Report by Autism Speaks

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Advances in understanding and treating the physical and mental health conditions that frequently accompany autism

Advances in understanding and treating the physical and mental health conditions that frequently accompany autism

April 26, 2017

This week, Autism Speaks issued the first in a series of annual, in-depth reports on special topics in autism – Autism and Health: Advances in Understanding and Treating the Health Conditions that Frequently Accompany Autism.

The last decade has brought tremendous advances in understanding and addressing the many physical and mental health conditions that frequently accompany autism. We now know that autism is a whole-body disorder for many people on the spectrum. Its common co-morbidities include epilepsy, gastrointestinal distress, sleep disturbances, eating and feeding challenges, attention deficit and hyperactivity disorder (ADHD), anxiety, depression, schizophrenia and bipolar disorder.

While each new piece of high-quality research adds to our understanding of autism, it also adds to the complexity of developing the best practices to address the diverse needs of the autism community.

So in this, our inaugural special report, we have gathered the most-authoritative research on autism-associated health conditions and the latest guidelines on treatment and support of those affected by them.

This report – and much of the research behind it – would not be possible without the passion and generosity of our community of volunteers, donors and families.

You can download a copy of the 35-page report from our website
here.

IACC announces its top autism research advances of 2016

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The U.S. Interagency Autism Coordinating Committee (IACC) has published its annual summary of advances in autism research, with portfolio analysis and searchable funding database

The U.S. Interagency Autism Coordinating Committee (IACC) has published its annual summary of advances in autism research, with portfolio analysis and searchable funding database

April 24, 2017

The Interagency Autism Coordinating Committee (IACC) has published its annual list of the past year’s highlights in autism research – 2016 IACC Summary of Advances in Autism Spectrum Disorder Research. The 20 selected reports include new findings on:

* The challenges faced by high-risk siblings of children with autism,

* Molecular changes underlying the biology of autism,

* Risk factors for neurodevelopmental disorders,

* Promising communication interventions,

* The effects of federal and state policy changes on autism services, and

* Health and employment outcomes for adults on the spectrum.

Follow the title link above to learn more and download the full report.

In addition, the IACC has published 2013 Autism Spectrum Disorder Research Portfolio Analysis Report– an analysis of autism research against the goals laid out in the 2013 IACC Strategic Plan Update. This information is also available in a searchable form in the recently redesigned and relaunched online IACC/OARC Autism Research Database.

For more information about the IACC’s publications and activities, visit www.iacc.hhs.gov.

 


FDA invites autism community to guide May 4 meeting on medicine development

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Participate in person or online; panelists include Autism Speaks Chief Science Officer Thomas Frazier, the father of a child who has autism

Participate in person or online; panelists include Autism Speaks Chief Science Officer and autism researcher Thomas Frazier, the father of a child who has autism

April 25, 2017


The Food & Drug Administration (FDA) invites people living with autism, family members and advocates to participate in a meeting and panel discussion on Patient-Focused Drug Development for Autism, Thursday May 4, from 1 to 5 pm Eastern. In particular, the FDA seeks the community’s views on treatment approaches and personal stories of how autism affects daily life.

Patient-focused drug development incorporates the patient’s voice in the development and FDA evaluation of new medicines.

Panelists at the May 4 meeting will include Autism Speaks Chief Science Officer Thomas Frazier, the parent of a child who has autism. A clinical psychologist and autism researcher, Dr. Frazier directed the Center for Autism at Cleveland Clinic Children’s Hospital before recently joining Autism Speaks.

The meeting will focus on two main discussion topics.

First, the FDA wants to hear directly from affected individuals and family members about the symptoms that have the most significant effect on their lives. This includes learning about major worries and curtailed activities that are important to you.

Second, the FDA wants to hear about how you currently manage autism-related challenges. This includes:

* What you see as significant drawback to current treatments,

* What you want to see in new treatments, and

* What factors you consider when making decisions about managing autism-related symptoms and challenges.

The meeting will be held on the FDA’s Silver Spring campus and streamed via live webcast. To learn more and register, visit Public Meeting on Patient-Focused Drug Development for Autism.

In addition to inviting input at the public meeting, the FDA asks members of the autism community to share their perspectives and answer a series of related questions through the Federal Register public docket here. This docket link will remain open until July 5, 2017.

Autism Speaks at the International Meeting for Autism Research 2017

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A look ahead at more than 50 presentations by Autism Speaks science staff and funded researchers at IMFAR 2017, May 10-13, in San Francisco

A look ahead at more than 50 presentations by Autism Speaks science staff and funded researchers at IMFAR 2017, May 10-13, in San Francisco

May 05, 2017


Autism Speaks is proud to be a major sponsor of the International Meeting for Autism Research (IMFAR), taking place May 10 - 13 in San Francisco. The annual meeting is the world’s largest gathering of autism scientists, doctors, therapists, parents and individuals on the spectrum.

Events include more than 50 scientific presentations by Autism Speaks science staff and affiliated researchers supported by project grants and other resources. You can view the full lineup of Autism Speaks-affiliated presentations and activities in the program book below.

“I’m particularly pleased to see how this year’s presentations reflect the growth in research focused on teens and adults,” says Autism Speaks Chief Science Officer Thomas Frazier. “It’s crucial that we first grow our understanding of their needs across autism’s full spectrum. This will enable us to develop and adapt strategies to better address areas of particular need, including the successful transition to work and independent living, as well as treatments for associated physical and mental health issues.”

Download the AutismSpeaks@IMFAR2017 program here.

 

Thank you for taking the 2017 Autism Speaks Science Planning Survey

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We appreciate your input as Autism Speaks develops its next three-year strategic plan for science; we'll be sharing the results in the coming weeks

We want your input as Autism Speaks develops its next three-year strategic plan for science; we'll be sharing the results in the coming weeks

August 01, 2017

The Autism Speaks Science Planning Survey is now closed. Thank you for your input, which we'll be sharing in our science news column in the coming weeks. 

We want your input as Autism Speaks develops its next, three-year strategic plan for science.

The link below will take you to a brief survey soliciting your thoughts on the kinds of research you want us to emphasize – as well as any areas you think we should avoid. Your guidance is essential as we reassess how we meet the evolving needs of the autism community as well as build on recent advances in autism research.

We want to include input from all our stakeholders – individuals on the spectrum, families, researchers, clinicians and other autism advocates. We look forward to sharing the survey results – as well as our new strategic plan for science – in the months ahead.

Take the 2017 Autism Speaks Science Planning Survey here.

Autism Speaks Names 2017 Weatherstone Predoctoral Fellows

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Weatherstone program launches highly promising careers in autism research with ground-breaking studies conducted under the mentorship of leading scientists

Weatherstone program launches highly promising careers in autism research with ground-breaking studies conducted under the mentorship of leading scientists

August 15, 2017

Autism Speaks is pleased to announce its ninth class of Weatherstone Predoctoral Fellows. Selected from a highly competitive pool of applicants, this year’s eight investigators will pursue two-year, autism research projects under the mentorship of leading scientists in the field.

Autism Speaks established the Dennis Weatherstone Predoctoral Fellowship Program in 2008 with a generous grant from the Stavros Niarchos Foundation. The program honors the late financier Sir Dennis Weatherstone and his commitment to the education of early career scientists pursuing autism research. Lady Weatherstone and daughter Cheryl Weatherstone-Vance continue to actively support this fellowship program on a personal level. 

The 2017 class brings the number of Autism Speaks Weatherstone Predoctoral Fellows to 71 – making it the largest and arguably most consequential fellowship program in the field of autism research.

A panel of scientists, medical specialists and community advocates reviewed a highly qualified field of applicants to select this year’s fellows, who were approved by the Autism Speaks Board of Directors. Their scientific projects include a broad range of basic and applied research studies – all sharing the goal of improving the lives of children and adults on the autism spectrum.

“By funding the development of these early career scientists, we are fostering the innovative ideas and powerful collaborations needed to truly enhance the lives of people with autism,” says Autism Speaks Chief Science Officer Thomas Frazier. “The Weatherstone Predoctoral Fellowships are key to broadening and deepening research focused on understanding autism and the needs of those affected by it.”

This year’s class of Autism Speaks Weatherstone Fellows are:

Maya Reiter Under the mentorship of Ralph-Axel Müller, at San Diego State University, Ms. Reiter will use noninvasive brain imaging techniques to assess the risk for challenges in mental health and daily living among adolescents affected by autism. Her goal is to guide the development of more-effective programs for supporting a successful transition to adulthood. Read more about her research project here.

Evan Geller Under the mentorship of James Noonan, at Yale University, Mr. Geller will use high-throughput genome editing to advance understanding of the role that non-coding DNA variations play in autism risk. This knowledge is crucial to maximizing the insights gained through whole genome research on autism’s varied causes and personalized treatments. Read more about his research project here.

Rachael Muscatello Under the mentorship of Blythe Corbett, at Vanderbilt University, Ms. Muscatello will investigate the role that increased sympathetic and hypothalamic-pituitary-adrenal activity play in driving high rates of anxiety and other psychiatric issues among people who have autism. Her research has the potential to improve diagnosis and treatment of these conditions among both children and adults on the autism spectrum. Read more about her research project here.

Xuan Tran Under the mentorship of Shafali Jeste, at the University of California-Los Angeles, Ms. Tran will use noninvasive electroencephalography (EEG) to identify early differences in brain connectivity in infants at high familial risk for autism. Her study will also assess whether these differences can predict language development and autism symptom severity. This work aims to improve early identification and personalized interventions that can support and improve each child’s development. Read more about her research project here.

Murat Kilinc Under the mentorship of Gavin Rumbaugh, at The Scripps Research Institute-Florida, Mr. Kilinc will seek biological targets for autism treatments by determining how different isoforms of the protein Syngap1 regulate dendritic development and synapse physiology in neurons (brain nerve cells). This research has the potential to advance our understanding of autism and intellectual disability at the molecular and brain systems level. Read more about his research project here.

Jessica Greenlee Under the mentorship of Marcia Winter, at Virginia Commonwealth University, Ms. Greenlee will assess how social skills, family cohesion, peer interactions and related factors combine to influence the mental well-being of adolescents affected by autism. Her findings promise to advance understanding and treatment of anxiety, depression and other mental health problems that commonly occur in this vulnerable group. Read more about her research project here.

Elyza Kelly Under the mentorship of Peter Tsai at University of Texas Southwestern Medical Center, Ms. Kelly will study the brain circuits underlying cerebellar regulation in autism to assess the potential therapeutic benefits of neural circuit modulation. She will pursue this research using neuronal recording and optogenetics in mice bred to exhibit autism-like behaviors. Read more about her research project here.

Roxana Mesias Under the mentorship of George Huntley, at Icahn School of Medicine at Mount Sinai, Ms. Mesias will determine the role that mutations in the CDH8 gene can play in the development of autism, with the aim of guiding future treatments. She will do so by tracking brain-network development in a genetic mouse model of CDH8 autism using a combination of axonal tracing, immunocytochemistry and cleared-brain techniques. Read more about her research project here.

Explore all the research that Autism Speaks is funding using this website’s Grant Search

Autism researchers Coyle, Lord and State win international honors

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Autism Speaks congratulates Joe Coyle, Cathy Lord and Matt State on receiving the National Academy of Medicine’s Sarnat International Prize in Mental Health

Autism Speaks congratulates Joe Coyle, Cathy Lord and Matt State on receiving the National Academy of Medicine’s Sarnat International Prize in Mental Health

October 15, 2017

Autism Speaks is pleased to see three leaders in autism research honored with the National Academy of Medicine’s 2017 Rhoda and Bernard Sarnat International Prize in Mental Health.

Child psychologist Joseph Coyle, of Harvard Medical School, is being honored for his revolutionary work integrating neuroscience and clinical psychiatry, which shifted psychiatry’s emphasis toward brain research. Child psychologist Catherine Lord and geneticist Matthew State are being honored as a team, for designing gold-standard diagnostic methods for autism (Dr. Lord) and using these tools to advance the study of autism genetics and genomics (Dr. State).

Drs. Coyle and Lord are members of the Autism Speaks Medical and Science Advisory Committee. Dr. State’s research has made fruitful use of Autism Speaks’ longstanding autism genome-sequencing programs, which are now part of MSSNG (pronounced “missing”) the world’s largest whole genome databank for autism research.

Read more about their award-winning research and National Academy of Medicine honors here.

 

 

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