As a major sponsor of the International Meeting for Autism Research (IMFAR), Autism Speaks has the honor, each year, of addressing attendees with an update on the organization’s research activities and priorities.
On Friday, Autism Speaks President and Chief Executive Officer Angela Geiger welcomed IMFAR attendees, expressed how pleased she was to join Autism Speaks and reaffirmed the organization's commitment to research.
“The one thing I want you to take away from my remarks this morning is Autism Speaks' continuing and steadfast commitment to autism research," Ms Geiger said. "We look forward to a renewed focus on how we collaborate and what we accomplish.”
Following Ms. Geiger's remarks, Autism Speaks Interim Chief Science Officer Mathew Pletcher delivered the organization’s annual update to the autism research community and its stakeholders. Below are his full remarks:
“Thank you all for attending and participating in this year’s International Meeting for Autism Research. I really appreciate the opportunity to come before you this morning to tell you about some of the work that we’re conducting and supporting in furthering our mission at Autism Speaks.
From the earliest days of our organization, it’s been the central pillar of Autism Speaks to support the research community in developing a deeper understanding of the causes of autism as well as the developing new and improved therapies for individuals with autism.
One of the main mechanisms we’ve used to pursue this goal has been the awarding of grants. We continue to maintain a very active grant portfolio at Autism Speaks. There are currently 79 active projects that Autism Speaks supports through its grant program. These grants providing a total of $24.7 million in support.
The research conducted through our grant program covers a diverse area that includes the development of new cell and animal models, work to understand the genetic and environmental causes of autism, as well as the development of improved biomarkers and diagnostic techniques.
We’ve also looked for opportunities to seed new areas of research that may not be attracting investment from the NIH. Areas that are exciting and novel, yet still need support to develop that key data set that will eventually attract federal funding.
One of the new areas that we’re focusing on is the microbiome and its relationship to the GI issues suffered by many people with autism. We want to help explore possible connections between these GI issues and some of the behavioral issues also observed in autism.
We also continue to make it a priority to help support individuals just starting their careers in autism research. We recognize that in order to attract the best and brightest to the field of autism research, we need to be able to support them at the earliest stages of their careers.
Just last week we announced the awarding of four new fellowships to individuals undertaking pre-doctoral training. Ann Martin at the University of Utah, Eric Rubenstein at the University of North Carolina, Steven Sinisky at Duke University and Sophie Schwartz at Boston University received our Weatherstone and our first ever Royal Arch Mason fellowships to conduct their early training and research.
One of the more ambitious projects that we’ve undertaken in the last couple of years is our MSSNG program. MSSNG is a public private partnership that involves Autism Speaks, Stephen Scherer at Sick Kids Hospital in Toronto, and Google. This effort is generating 10,000 whole genome sequences from individuals in families affected by autism, then making that data available in combination with deep phenotypic characterization of those individuals – all available in an open-science format on the Google Cloud Platform.
This project has been running at full steam over a year, and at this point we’ve completed the sequencing of nearly 7,000 full genomes. Of these, 5,000 are already openly available to the autism research community. In fact, at this point 93 different researchers from 40 institutions in nine countries have applied for and received permission to work on the MSSNG dataset.
This work is already showing tangible results.
Last year, Stephen Scherer published the first paper out of the MSSNG dataset in Nature Medicine. We are currently aware of two additional papers under review that likewise make use of the MSSNG data set and will continue to expand our knowledge around the characterization of genetic subtypes of autism.
We are also entering a very exciting phase of MSSNG. In addition to the fact that we will likely reach our goal of 10,000 whole genome sequences publically available by the end of this year, we are initiating work now to build a community portal.
The community portal will serve as a way to return the genetic data we’re developing through MSSNG to the families who so kindly agreed to participate in MSSNG and share their genetic information and their clinical and health data with the research community.
Obviously as an organization that represents the families, we feel it’s essential that they have the opportunity to benefit – not sometime in the future – but now from this valuable data and be able to use it in their own journey with autism. We are making sure to make this happen through the building of the community portal.
As we continue to think about where projects like MSSNG will go, one of the big areas of focus is connecting the data to clinical care and being able to use it in the development of personalized care plans.
One of the ways that we think we can do this is through the Autism Speaks Autism Treatment Network, which represents 14 clinical centers of excellence for the delivery of care to individuals and families with autism. More than 30,000 children and teens with autism receive treatment through the Autism Treatment Network in the course of each year.
And we look forward to be able to take the data coming out of MSSNG and bring it into this clinical setting and be able to understand how that genetic data can improve outcomes through this kind of partnership.
At the same time, our Autism Treatment Network itself is looking at new and better ways to provide care to the autism community. One of these initiatives is ECHO – the Extensive for Community Health Outcomes. The goal of the ECHO initiative is to use the technology and principles of tele-health and tele-mentoring to spread the expertise and the understanding and the best practices developed within the ATN. In delivering this expertise to underserved populations, ECHO can help ensure that people who don’t live within easy driving distance of one of the 14 ATN sites will still have the opportunity to benefit from that collective knowledge.
Finally one last project that I’d like to make mention this morning is the development of the Preclinical Autism Consortium for Therapeutics, or PACT. This is a collaboration involving Mustafa Sahin, Jackie Crawley and Carrie Jones at Boston Children’s, UC Davis and Vanderbilt.
The goal of PACT is to develop and validate a number genetic mouse and rat models of autism in both behavioral assays and molecular endpoints. The purpose is to address a gap in the current drug development pipeline.
If we hope to attract more industry investment in the development of new therapeutics, it’s critical that we have in place the tools that will allow us to properly access the potential of any new therapeutic ahead of a clinical trial. In fact, we received early validation of this model. Multiple small biotech companies have come forth and expressed interest in utilizing the tools that PACT has developed to evaluate their proprietary small molecules and determine if in fact there is a path forward for the use of them in individuals with autism.
I’d like to conclude by saying that we at Autism Speaks are always looking to receive feedback and engage in conversation with the research community on how we can best make use of our resources. During the course of today, you’ll find a number of us at the Autism Speaks booth just outside this room. We welcome each of you to come and join us at the booth and engage in conversations around on how we can better serve the research community and what we can do together to move forward this entire area of research for the benefit of every single person who has autism. Thank you.”