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Building a Rare Resource: Brain Tissue DNA

The Autism Tissue Program (ATP), a science program of Autism Speaks, has made precious brain tissue available for research since 1998. Now the ATP offers genetic data derived from brain tissue as well as providing the tissue itself for further study.  A newly published paper1 describes this joint project of Autism Speaks and The Centre for Applied Genomics in Toronto.

DNA extracts from 52 brain samples of donors (26 subjects with confirmed or suspected autism, five subjects known to have duplications of a portion of chromosome 15q, one donor with Angleman Syndrome, two with epilepsy, and 18 age-matched normal controls) were analyzed for genetic “markers”– unique alterations in the DNA.  Using common gene microarray ‘chips’ to capture small variations within the genome, the investigators found many instances of repeating blocks of genetic code termed genomic copy number variation (CNV).

A CNV is a submicroscopic duplication or deletion of a stretch of DNA in the genome.  The preliminary observations show over 150 CNVs found in the autism cases that are not observed in individuals with no known neurodevelopmental disorders. Some of these CNV overlap with known autism susceptibility genes: For example, the NRXN1 gene encodes a protein that helps synapses between neurons connect and has repeatedly been associated with autism.

The genotype data and DNA samples are available to the autism research community through a peer-reviewed approval process by the Autism Tissue Program’s Tissue Advisory Board.  One of the board members, Stephen D. Ginsberg, Ph.D., a Professor at Nathan Kline Institute in New York, participated in the dissection and analysis of the brain samples and is an author on the paper.  Dr. Ginsberg kindly agreed to a Q&A on the implications of this research and this new biological resource.

What is your research background and role on the Tissue Advisory Board (TAB)?

I have been a member of the TAB since 2007. I am formally trained in neuroanatomy (studying the structure of the human brain), neuropathology (assessing dysfunction of the brain in specific disease states), and molecular biology. My interest lies in understanding why specific neurons are vulnerable to neurodegeneration. I use precise methods to identify differential changes in gene and protein expression in specific neuronal populations in several neurodegenerative and neuropsychiatric disorders, including Alzheimer’s disease, Parkinson’s disease, schizophrenia, and recently in autism spectrum disorders through collaborations fostered through the TAB community. My original impetus for joining the TAB was to give back to the research community, as I have particular expertise in assessing brain tissue quality in postmortem samples for high throughput genomic-based studies. I am grateful for the health of my own children and feel obligated to help those families who are struggling with loved ones affected by autism spectrum disorders.

Why is this research important to understanding autism?

The collaborative group has proven that a library of DNA information (obtained using microarray technology) can be created from postmortem brains of individuals with autism as well as samples from age-matched typically-developed individuals.  This ‘proof of concept’ demonstration is critical for the success of this type of exploratory research. Importantly, the microarray assays were run on brain regions that are abundant, saving rarer and critical areas for future autism research. The DNA assays are available to researchers via a web-based system, meaning that many investigators around the world will benefit from the new repository.

How is this new library different from information from DNA from blood or cell lines?

The answer to this question has not been determined to my satisfaction at this point. Future work comparing DNA fingerprints extracted from blood, cell lines, and postmortem brain tissue are required. The fact that highly useful information was obtained from the most difficult tissue to work with (postmortem human brain) likely means that some overlap will be identified with more readily available blood and cell lines. Of course, this will demand more research to lay the groundwork for important discovery science.

How important is brain donation for autism research?

Simply stated, this work cannot be done without the selfless (and often uncredited) support from the donors and their families. There is no perfect animal or cellular model for autism to date, and we are dependent upon studying human tissues to give clues as to the underlying causes and potential treatments for autism spectrum disorders. As someone who also works in the Alzheimer’s disease field, I am tremendously aware of the difficulty of obtaining brain tissues from individuals with autism (as well as cognitively-matched typical controls). Many of the brains are collected from children who were lost to accidents.  In comparison, the acquisition of brains of older individuals afflicted with neurodegenerative disorders is more common, as awareness of the importance of studying the aged brain is widely accepted, and there are both federal granting agencies and private foundations that support the high cost of maintaining brain banks and distributing tissues. The families involved in the donation in the latter case may often have more time to consider the option of donation prior to the precious few hours in which a brain may be donated after death.  By contrast, the field of autism research is relatively new and greater awareness and community outreach will be required for the brain repository aspect of research to reach its full potential. We have begun to make real progress, and I am honored to be part of this exciting endeavor.

This genetic information and the rare DNA resource is made possible by the support of the ATP donor families. To register you or your family to make a lasting gift to science, please visit www.autismtissueprogram.org for information and online registration, or call 877-333-0999 for information or to initiate a brain donation.  Please direct questions about the genotype data and application process for DNA samples to Dr. Jane Pickett (jane.pickett@autismspeaks.org).


1. Wintle RF, Lionel AC, Hu P, Ginsberg SD, Pinto D, Thiruvahindrapduram B, Wei J, Marshall CR, Pickett J, Cook EH, Scherer SW.  A genotype resource for postmortem brain samples from the autism tissue program.   Autism Res. 2011 Jan 19. doi: 10.1002/aur.173. [Epub ahead of print]

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  1. February 1, 2011 at 3:51 pm

    Keep up the good research guys!

  2. marie fauth
    February 1, 2011 at 6:32 pm

    I understand the need to use post mortal brain tissues to study the mechanisms of autism but… I took the challenge to order genetic testings on autism suspect genes. : CDKL5-SHANK 3-CNTNAP2 genes and a microarray analysis with a private Lab in United States ( Athena Diagnostics Lab). The results came out that my 7 years old son has 2 variants on Shank3 gene and 1 on CNTNAP2 ( both inhirited from the parents ). I know numbers of parents who are looking to use genetic testings on their children but they don’t know where to turn, sadly geneticists doesn’t help them either. If there will be a way to help parents with children with autism to get their children tested for genetic variants without entering IAN project or the autism genome project where they feel they don’t have control of what is going on with the testings, IT WOULD HELP. I think it would help reserchers to have access to datas who are living people whith behaviors and features that could help more in understanding autism. I am struggling to find other families with children with small mutations and I know they are thousands of them in the world, but they don’t have a easy practical way to test their children. Thank You Autism Speaks for this very interesting article.

  3. February 1, 2011 at 10:32 pm

    Our family would like to thank everyone involved in the Autism Tissue Program and expanding the possibilities with this type of research. Our family has been supportive of the program since meeting Dr. Pickett in 1998 during the launching of the awareness efforts to increase the importance of the program. As a family who, since having a son diagnosed with autism in 1993, has been looking for answers within causation, we have participated in and supported many research studies.

    However the ATP has always been on that is close to our hearts for many reasons. When Mark Coriaty, our son’s uncle and Carolyn’s brother passed away in 1999 it seemed for us the natural thing to ask our family for a consideration for him to be a donor. Having lived his life with the challenges of epilepsy and undiagnosed Asperger Syndrome, his death at age forty four was unexpected and traumatic for us all, especially his parents who were both chronically ill.

    However it was the first time in many years our family came together and agreed to have our loved one be a donor for the Autism Tissue Program. Since then we’ve continuted to encouraged others to register and have shared information about the vast need for brain research, tissue donation, and what is being done within this ever evolving field. We have hopes one day we will find an answer, but we also know our son’s autism is something that will affect him, but does not define him.

    Like his uncle our son is determined, community oriented, resilent beyond words, and an inspiration to us and many. He also has benefitted greatly from being able to understand his disability, to be able to live with it daily, and to be able to celebrate his triumphs. He has come a long way from those initial weeks of the unknown of a diagnosis, to today attending college and starting his own micro-enterprise.

    Thank you Autism Speaks for continuing this increasingly important research, and to the ATP staff, especially Dr. Jane Pickett, we thank you as a family for making us feel as part of a community looking for answers. We would urge others to please consider registering and learning more about the ATP.

    With much appreciation,
    The Gammicchia and Coriaty Families
    Andrew, Carolyn, Alexander, and Nicholas

  4. marie fauth
    February 2, 2011 at 12:57 pm

    Carolyn, I am so sorry for your lost and you have an amazing family.
    My son and my family are part of a study at Stanford University. They did a skin punch to change the skin cells into neurons so they can study the brain structures on different syndromes associated with autism. So far we are the only ones with autism suspect genes variants. The research team also did psychological evaluations on us parents. I think it’s still more interesting to work on living brain tissues than dead ones, hoping that the neurons in a dish are as perfect than the real ones. The study on my son’s neurons may be a challenge for the research team, they will also grow my husband and I neurons. Who knows, maybe these variants will not transcribe into the neurons in a dish, maybe they will…If they do and they find that the neurons are altered because of the genetic variants, it will be important for Autism research. At this point, research study on post mortem brains would not be as accurate than with living tissues and the data on the living subjects would also be more completed. I hope this new technology ( disease in a dish) will be the future for all type of research, autism included.

  5. Dinae
    February 3, 2011 at 1:04 am

    I just want to ask, why does it seem like everyone want to change autism? Is this why u are looking for answers? I have a beautiful son and he has autism and I would never change him never ever. My son is smart and beautiful, my son is in his own world but it’s ok with me. I just think people need to be more open to autism and accept it for what it is beauty not sadness. God put children with autism on earth for a reason, I tell u they are the bright future that we all need. We will never know why only god will know why autism is here. I love my son always he is a blessing in my life.

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