Archived | NAAR/Autism Speaks: Autism Tissue Program | Circa 2009 … #NotAnAutisticAlly

Autism Tissue Program

In 1998, NAAR played a pivotal role in establishing and funding the Autism Tissue Program, a parent-led post-mortem brain tissue donation program dedicated to autism research.

The Autism Tissue Program makes post-mortem brain tissue available to as many qualified scientists as possible to advance autism research. Using brain tissue, scientists can go far beyond the constraints of other technologies and study autism on both a cellular and molecular level. 

Without this tissue – the most fundamental, rare and precious of resources – studies that could lead to the treatment and eventual cure for autism spectrum disorders cannot be done. Brain tissue studies also increase our ability to learn to diagnose autism earlier and better assess the risks of inheritance.

The Autism Tissue Program is supported by Autism Speaks, in partnership with Harvard Brain Tissue Resource Center in Massachusetts and the Children’s Hospital of Orange County in California (CHOC) This support ensures that this precious resource is available to researchers worldwide searching for answers to this devastating disorder. So far, over 42 studies have been made possible through the ATP. 

Unfortunately most organ donor registries do not include brain tissue donation options. If you would like any information about the program or the important research using this resource, please call (877) 333-0999 or visit

In January 2007, the Autism Tissue Program announced 8 new projects that have been reviewed and approved by the Tissue Review Board. See below for details of the projects.

View (below) Autism Speaks’ Family Connections Spring 2009 Newsletter.

Autism Tissue Program Announces New Research Projects 

The Autism Tissue Program, or ATP, is pleased to announce 8 new research projects which have been reviewed and approved by the Tissue Advisory Board. These projects involve a wide range of disciplines to better understand the neurobiology, neuropathology, and neurochemistry of autism, using state of the art techniques which will help better identify genetic and environmental influences of autism. These projects would not be possible without the resources provided by Autism Speaks and the Autism Tissue Program, and represent both new and collaborative ideas which were closely reviewed by the ATP Tissue Advisory Board.

How Might Environmental Factors Contribute to Autism?

Richard Deth, Ph.D.
Department of Pharmaceutical Science
Northeastern University

Alternative Splicing of Brain Methionine Synthase in Autism

The incidence of autism has increased dramatically in recent years, suggesting that environmental factors may play a role in causing the condition. Previous studies suggest that toxins such as mercury, lead, arsenic and other substances affect the development of neurons through oxidative stress and inflammation. One mechanism by which these toxins act is to lower the concentration of the antioxidant glutathione in the brain. An important regulator of the production of glutathione is the enzyme methionine synthase. Methionine synthase is also important in the function of the neurotransmitter dopamine which helps to regulate brain activity. Certain vitamins, such as folate and vitamin B-12, which have proven effective in treating autism, act to increase the activity of methionine synthase.

While the expression of glutathione and methionine synthase has been previously studied in serum from individuals affected with autism, this study will examine how this enzyme is expressed in brain tissue. The function of the brain may not be well characterized by what is found in blood. Dr. Deth will be collaborating with Dr. Antonio Persico who has isolated DNA and mRNA using brain tissue, thereby expanding the use of an already existing resource.

Significance: If the research finds differences in the methionine synthase associated with autism, it will provide researchers with more information about potential genetic susceptibilities which may interact with environmental factors.

Exploring Genetic Influences in Autism Spectrum Disorders

Arthur Beaudet, M.D.
Department of Molecular and Human Genetics 
Baylor College of Medicine

Testing A Mixed Epigenetic/Genetic and De Novo (MEGDI) Model for Autism

The genetics of autism spectrum disorder are very complex and while many studies have reported specific changes in changes in DNA sequence or genotype in individuals affected with autism, some changes in gene expression are not detected by traditional techniques. Changes in the DNA code may be observed through mutations in the DNA code, or through chemical modifications of the DNA which produces changes in gene expression. This is called an epigenetic or “de novo” mutation and may be induced spontaneously or through environmental exposure. This area of study, called “epigenetics”, refers to changes in DNA which do not result from a change in the sequence of the molecules in the DNA, but from the addition of a methyl group (a simple carbon atom with three hydrogen atoms attached) to a section of the DNA known as a “CpG” island. Mutation of the gene which regulates coding of a protein responsible for methylation of DNA is responsible for Rett’s Syndrome, a condition considered to be on the autism spectrum. This abnormal methylation of DNA which can adversely affect the functionality of the brain cell may contribute to other types of autism as well.

Utilizing the most advanced technologies available to study methylation patterns, this project will compare and contrast the methylation patterns in brain tissue from donors and the pattern identified from blood samples in individuals affected with autism. As part of an expanded project, blood from family members will also be analyzed to determine how these epigenetic factors are inherited.

Significance: This research will help scientists better understand the role of genetic factors in autism spectrum disorder that may not be revealed through changes in the DNA sequence itself.

How Does the Brain Develop Differently in Autism?

Gene Blatt, Ph.D.
Department of Anatomy and Neurobiology 
School of Medicine
Boston University

Studies of the Fusiform Face Area, Broca’s Area, and Wernicke’s Area in Autism

Autistic individuals typically exhibit weak social skills due to deficits in language, attention, communication, and the ability to interpret the emotions of others. When autistic individuals interact, they spend less time looking at the faces of others with whom they are communicating, and when they do, they tend to focus on one particular facial feature. They miss important facial expression cues that are essential to normal communication.

Previous studies suggest that a cause of this disability may lie in the part of the brain known as the fusiform gyrus, or fusiform face area. Neuroimaging techniques such as magnetic resonance imaging (MRI) show that this part of the brain is less active during face processing. This hyperactivity may “short circuit” the brain’s ability to interpret facial cues during social interactions.

This study examines the anatomy of the fusiform gyrus in autistic individuals to determine if there is a difference in neuroanatomy when compared with normal individuals. The study will examine the cellular structure to determine if the circuitry or signal conductivity in the brain is altered. Two other brain regions important to speech, known as the Broca’s and the Wernicke’s areas, will also be studied in the same manner. The role of GABA, a neurotransmitter found in the central nervous system that has been implicated in autism, 5HT and glutamate transporters and receptors will also be analyzed to determine if they play a role in the circuitry of these brain regions.

Significance: By discovering neurological differences possibly responsible for social perception and speech difficulties, this study may lead to therapies to address potential underlying signal transmission deficits in the brain.

Eric Courchesne, Ph.D.
Department of Neuroscience
University of California at San Diego

Comprehensive Analysis of Regional Microstructural Differences in Autism and Laminar Organization and Gene Expression Profiling in the Dorsolateral Prefrontal Cortex in Autism

Individuals with autism have difficulty with cognitive planning, joint attention and abstract thinking, functions which are often attributed to abnormalities in an area in the frontal lobe of the brain called the dorsolateral prefrontal cortex. Past behavioral, imaging and postmortem research studies provide compelling evidence that the frontal lobe of the brain develops abnormally in children with autism. In fact, the dorsolateral prefrontal cortex is 12% larger in children with autism under five years of age compared to normal children. Furthermore, little is known about defects in the number of neurons found in this area, and their thickness and arrangement when compared with other areas of the brain and when compared with neurotypical brains.

Inadequate information is available to explain the genetic and developmental processes that cause this early brain overgrowth and the related behavioral deficits associated with the dorsolateral prefrontal cortex. Using tissue from ATP, Dr. Courchesne and his colleagues will identify structural abnormalities in the development of the autistic brain. This research will comprehensively analyze the tissue for changes in the number of cells by counting the cells and by looking at the microstructure of the frontal cortex. A comparison of potential defects will then be made by analyzing tissue in other areas of the same brain (the temporal, parietal and occipital lobes). Structural differences between brains of people with autism and those without autism will also be assessed. Abnormal developmental changes over time will also be analyzed by examining brain tissue from various age groups.

One potential way in which the cell size and number in the dorsolateral prefrontal cortex could be altered in autism is because during development, new neurons are not migrating to their proper locations. This hypothesis will be tested by examining expression of “laminar specific markers” in brain tissue which will map the migration patterns in the different layers of the cortex. This part of Dr. Courchesne’s study will identify whether or not during brain development, neurons migrate to their proper specific cortical layers, and also describe patterns of gene expression that may be different in individuals with autism. The gene expression patterns identified include the previously mentioned “laminar specific markers” as well as other genes involved in neurogenesis, cell death, and cell to cell signaling.

Significance: Identifying the neural processes that lead to abnormal brain function will provide important information relating the underlying mechanisms of developmental brain abnormalities in autism. Dr. Courchesne will be collaborating with a number of investigators who represent experts in the field of neurobiology, molecular biology, and neuranatomy to better understand the mechanisms by which the dorsolateral prefrontal cortex is impaired in autism.

Understanding How Brain Chemistry Influences Autism

Ricardo Miledi, M.D.
Department of Neurobiology and Behavior
University of California, Irvine

Studies of Neurotransmitter Receptor in the Behavior of Autistic Brain

Autistic individuals often exhibit disabling behaviors such as repetitive movements, self injury and self stimulation. A possible cause of these behaviors may be an imbalance in the brain chemicals known as neurotransmitters in the brains of individuals suffering from autism. Examples of neurotransmitters thought to be important in autism are GABA, dopamine, serotonin and glutamate. These neurotransmitters are one of the means by which signals are relayed between neurons in the brain. The imbalance may be due to alterations in the function of neurotransmitter receptors, that part of neurons which receive the signal from the neurotransmitter.

The primary goal of the study is to determine the differences in functional properties of the neurotransmitter receptors of autistic individuals when compared to normal individuals. This will be done by isolating the receptors in brain tissue and studying their genetic makeup, electrophysiological properties and interactions with known medications.

Significance: The results obtained will provide the first functional and structural characterization of neurotransmitter receptors in the autistic brain and their reaction to commonly used medications. The knowledge gained from the effect of drugs on specific brain tissue at the molecular level will improve decision making concerning the use of existing drugs and may lead to improved therapies for autism and specific symptoms of autism.

Patrick Gregory, Ph.D.
Unit of Anatomy
University of Fribourg

Expression of the Calcium-Binding Protein Parvalbumin (PV) and the Autistic Brain

A network of neurons which use GABA as a neurotransmitter, called GABAergic inhibitory neurons, are responsible for signaling across the brain, and control coordinated activities including filtering of signals across sensory modalities. Many investigators have hypothesized that impaired GABAergic signaling may serve as an underlying etiology in autism spectrum disorders. While Dr. Blatt is investigating the expression of GABAergic receptors, Dr. Gregory will be examining the expression of a calcium binding protein, parvalbumin, which is important in the transmission of nerve impulses. In previous research, genetically modified mice known as “knockout mice” have been altered so that they do not express one or several of these calcium-binding proteins. Behavioral studies on these mice showed that they exhibited certain symptoms similar to autistic like behavior (e.g. stereotypic movements and a decrease in some aspects of social interaction). Previous studies by other research groups have shown that these proteins are decreased in particular brain areas of patients with schizophrenia and the absence or decrease in these proteins have also been linked to epilepsy. The goal of this research is to establish if there is a decrease in these proteins in the brains of people with autism by analyzing the brain tissue. In addition to studying expression of parvalbumin in brain tissue, the number of GABAergic inhibitory neurons will be counted.

Significance: If the pathology of autism is better understood this would lead to appropriate treatment interventions. For example, if in fact there is a decrease in calcium binding proteins within the brain, then this could lead to a potential treatment to alleviate the symptoms of autism. The investigations being conducted by both the Gregory and Blatt labs will help determine the role of GABA signaling in autism, both in terms of specific cell type and neurochemical activity.

Kazuhiko Nakamura, MD, PhD
Department of Psychiatry and Neurology
Hamamatsu University School of Medicine

mRNA Expression Analyses Of Serotonin Transporter (5-HTT) and Serotonin Transporter Related Candidate Genes in Postmortem Brains

Many studies suggest that brain chemicals, known as neurotransmitters which relay signals between neurons, play a role in autism. Neurotransmitters act by being released by one neuron and then acting on a receptor on a post-synaptic neuron, relaying a signal in the brain. Neurotransmitters can also be reabsorbed by the parent neuron through transporters which both release and recycle released neurotransmitter actions. Dysfunction in the brain system controlling the neurotransmitter serotonin has been linked to autism. Drugs which slow serotonin reabsorbtion, know as selective serotonin reuptake inhibitors (SSRI’s), have a beneficial effect in some autistic individuals. Dr. Nakamura and his colleagues have already examined serotonin expression using PET scans from individuals with autism.

This study seeks to better understand the aspect of the serotonin system in the brain which relates to the reuptake of serotonin by exploring the mRNA (messenger RNA) expression of the serotonin transporter as well as other serotonin genes found in brain tissue. His group will then screen some of the candidate genes (genes that are implicated in causing a disease) using an animal model to determine which are required for normal human development.

Significance: Previous studies using imaging methods such as PET scans suggest that individuals with autism have reduced serotonin transporter expression. This study seeks to confirm and expand these findings by examining brain tissue. Understanding the role of the expression genes, the process in which the gene is switched on at a certain time and then controls serotonin neurotransmission in autism, may lead to new approaches to drug development.

Volume 2, Issue 2

Photo: Paul Law, Director, Department of Medical Informatics, Kennedy Krieger Institute, Assistant Professor, Department of Pediatrics, Johns Hopkins University

What Was The Personal Inspiration And Creative Process That Encouraged You To Develop IAN?

When my son was first diagnosed with autism in March of 1996, I quickly became dismayed by our lack of knowledge about autism and by the terribly slow pace of autism research. I became fascinated by the field of informatics and the development of tools that clinicians and researchers could use to manage data, share data, and make data rapidly available to as many researchers as possible.

In an effort to develop a system of data storage and retrieval for the researchers using ?AGRE, I worked closely with Cure Autism Now to develop the internet system for assessing autistic children, or ISSAC. ISSAC provides an interface that allows the AGRE team to enter data from the clinical in-home evaluations and offers researchers a mechanism by which to access those data almost as quickly as they’re collected. Over 400 researchers have access to ISACC and th system has served as the prototype for larger scale research databases such as the National Database for Autism Research.

While ISSAC has certainly made a splash in the research community, it does not directly engage families. The Interactive Autism Network (IAN) was designed to forge a partnership between researchers and families that would make it possible for us as a community to respond quickly when issues arise. One of my favorite moments working with IAN has been showing researcher show rapidly our families will respond and complete questionnaires we present to them. Often, we will have thousands of questionnaires completed within days— something unheard of in the research world. We are then just as rapidly make the data available to researchers.

How Many Families Are Registered? Why Is This Significant?

More than 28,000 people have signed up for the IAN Research Initiative. This includes children under 18 with autism spectrum disorders (ASDs), their siblings, and parents. Many additional families and researchers are participating in IAN in other ways.

MOre than 150 research projects are using IAN to recruit study participants. IAN data is being used by autism researchers across many fields.

What Is IAN Community And How Are Families Using It?

IAN Community is a website where we communicate with our families and the larger autism community. It is rich with basic information about ASDs, as well as articles on autism research topics and a research-focused discussion forum. It also provides a forum for the IAN team to provide feedback to families. IAN provides research reports based on the data families provide so that families can understand how others responded to similar questions.

All the information gathered from families offers researchers, policy makers, practitioners and educators a way to keep their finger on the pulse of what families feel is important and critical for further research.

What Are The Next Steps For IAN?

Early on, we recognized the need to support adults with autism. We are therefore preparing to launch our first “adults with ASD” surgery’s. We hope the adult data, like the child data, will impact not only research but policy. Whether it is data on insurance coverage for children’s ABA or the dilemmas of adults with ASD in the work place, we want to equip advocates to march on Washington and every state capital, telling the autism story and fighting for the services we need.

(This is the 1st page of the newsletter. The other pages were not available. )

Mom’s Poster of Autistic Daughter Wins Brain Research Awareness Contest

To raise awareness of the need for brain tissue, the Autism Tissue Program recently held a contest to solicit ideas for posters to help convey the message and importance of brain research. The editors of Autism Spectrum Quarterly were asked to evaluate the submissions, and we are proud to announce that Teri Baker of Eugene, Ore., was the winner. 

A story about Teri and her remarkable daughter Ragan was published in the November issue of ASQ (click here to read the story) and the poster was featured at Brain Awareness Week as a part of the Society for Neuroscience meeting in Atlanta, Ga. 

We congratulate Teri and thank her for all her ongoing work on behalf of the Autism Tissue Program.

The Autism Tissue Program is funded by Autism Speaks and the National Institutes of Health. 

The ATP works in partnership with the Harvard Brain Tissue Resource Center and the Children’s Hospital of Orange County. To read more about the neural progenitor cell project at CHOC led by Dr. Philip Schwartz, click here.  

The Autism Tissue Program also partners with IDEAS, a support and advocacy organization for duplications of chromosome 15q.

This collaboration expands the ATP to families affected by IDIC15. Children with IDIC15 show some behavioral similarities to autism and duplications of a specific region of chromosome 15 are one of the most commonly reported genetic features in autism.

The ATP is proud to work with IDEAS to allow researchers to better understand this disorder and the relationship to autism, and looks forward to working with researchers who will gain a better understanding of IDIC15 through brain tissue research. 

About The Program

Our understanding of autism today is based largely on the generosity and foresight of families, who during a very difficult time in their lives when a family member has died, made the decision to donate the brain for research. You can make a difference in autism spectrum research by knowing more about this program.

The Research

 The Autism Tissue Program has a world-wide network of researchers seeking to understand how and why the brain is different. The brain is the organ that is expressing the behaviors that we identify with autism (repetitive and restricted activities, lack of communication and social skills) – no matter what the cause. Brain tissue is vital because it is the only way to see individual brain cells and read the DNA and genetic messages to get a better understanding of autism. Use of post-mortem tissues for histological and biochemical methods has in the past been of crucial importance to understand and developing treatment options in many CNS disorders. 

Hope and Trust

Brain tissue donation reflects an individual’s or family’s decision to make the choice to benefit others and honors the complex and challenging life of the affected donors. The stewardship of this gift is a serious duty and depends on dedicated collaboration of parents, advocates, governmental agencies and scientists. We are forever grateful to those whose lives were challenged by autism or those family members or other caring individuals who bequeathed to the rest of us their Gift of Hope. 

Brain Tissue Donation

The Autism Tissue Program is a campaign to understand and treat a whole spectrum of pervasive developmental disorders; and the sad fact is that the most precious tissue for research will be from our youngest children who die unexpectedly. Because of the high hereditability of autism spectrum disorders, we encourage all family members to donate. Researchers need brain tissue from “normal controls,” i.e. people who are neither autistic nor related to people with autism, to compare to tissue from affected individuals and their families members. To avoid undue financial burden on families, the Autism Tissue Program assumes the any additional cost of tissue recovery. 

How to Donate

Talk about this with your family and sign up with us on this site. If a death occurs, call, or provide medical professionals with, the 24-hour number for the Autism Tissue Program, 1-877-333-0999, for donation to the Harvard Brain Tissue Resource Center to proceed. Organ donor programs do not automatically recover brain tissue so your consent and the call are necessary. 

Tissue Advisory Board

Quality research depends on decisions about the best use of the precious tissue that is donated. To ensure that these decisions are made by the leading experts in the neuroscience community, a Tissue Advisory Board is in place. This Board is comprised of experts with established track records indicating commitment to scientific inquiry and demonstrated expertise in studies of the brain and brain tissue such as molecular genetics, neuroimmunocytology neuroanatomy, neuropathology, neuroimaging and pharmacogenetics. 

Please call us at 1-877-333-0999 if you have questions or read the Frequently Asked Questions and Religious Perspectives about brain donation.


Director of Brain Resources and Data: 

Jane Pickett, Ph.D. Jane has over 10 years experience serving as coordinator of Developmental Disability services in Oregon where she participated on the Early Intervention team, developed/monitored state funded programs for all age groups, provided crisis management and facilitated parent support groups.

Clinically, she has been a community coordinator for services to the chronically mentally ill and held the post of Associate Professor and Director of the Department of Counseling and Testing at Oregon Institute of Technology where she taught biopsychology, assisted students with disabilities who required physical and academic accommodations and coordinated the Institute’s first Technology Fair in 1993, encouraging mechanical engineering and computer science students to address the varied technological needs of disabled persons.

Her research background includes published studies in molecular and behavioral genetics, neuropeptide biosynthesis, cellular and developmental processes and, before joining the Autism Tissue Program, the role of stress, gender and hormones at Princeton University

Outreach Coordinators: Working on communication with the community and providing information to the general public, outreach coordinators Connie Frenzel, M.S., R.N. and Denise Soto., bring strong parent-advocacy and professional health backgrounds to the Autism Tissue Program. 

Connie worked for 9 years as a facilitator of Parents Helping Parents in the San Francisco Bay area and continues an affiliation with the parent and professional education support group in northern California. During her nursing career, she helps integrate public health nursing services with county departments and private agencies and worked closely with community groups in implementing health education programs and now coordinates educational outreach for the Autism Tissue Program in the Western U.S. Connie is married and has two teenage children, a son with autism and a daughter. Connie can be reached through the 1-877-333-0999 number; her email is

Denise works as the community outreach coordinator for Autism Speaks and works closely with the ATP Ambassadors Program. She ensures that these ambassadors receive the staff support they need to educate the public about the importance of the Autism Tissue Program. She also provides information to those calling to request ATP materials, and answers general questions. She has worked with Autism Speaks for two years and works closely with WALK NOW leadership, volunteers and key staff within the program. 

Family Clinical Coordinator: Carolyn Komich Hare, M.S., serves as a Family Clinical Coordinator to the Autism Tissue Program, arranging a visit with the family after a donation to learn more about the individual. She feels honored to meet the families who have made this special contribution and finds serving as a consultant complimentary to her work as founder and director of AHEADD, a program developed (in cooperation with Equal Opportunity Services of Carnegie Mellon University) to assist students with Autism and Asperger’s Syndrome in higher education. AHEADD (Achieving in Higher Education with Autism/Developmental Disabilities) was established for the purpose of bridging the gap between public school services and the traditional college accommodations structure and was highlighted in the Chronicles of Higher Education in 2004 as an outstanding program. Carolyn lives with her husband in Pittsburgh, PA and can be reached at 1-877-333-0999 or by email:

Data Coordinator: Ellen Xiu serves as Data Coordinator for the Autism Tissue Program. Ellen maintains donor charts, reviews reports and documents for accuracy, manages and enters project data, organizes and enters test data, prepares data reports as necessary and data analysis as needed. Ellen came to the United States 12 years ago. She previously worked with a group investigating imported nutritional formulas and vaccines, has a lovely 8 year old daughter, and graduated from UMD&J with a Masters degree in Bioinformatics. Ellen can be reached at NAAR 888-777-NAAR.   

More with the Autism Tissue Program (AGP)


Autistic people have fought the inclusion of ABA in therapy for us since before Autism Speaks, and other non-Autistic-led autism organizations, started lobbying legislation to get it covered by insurances and Medicaid. 

ABA is a myth originally sold to parents that it would keep their Autistic child out of an institution. Today, parents are told that with early intervention therapy their child will either be less Autistic or no longer Autistic by elementary school, and can be mainstreamed in typical education classes. ABA is very expensive to pay out of pocket. Essentially, Autism Speaks has justified the big price tag up front will offset the overall burden on resources for an Autistic’s lifetime. The recommendation for this therapy is 40 hours a week for children and toddlers.

The original study that showed the success rate of ABA to be at 50% has never been replicated. In fact, the study of ABA by United States Department of Defense was denounced as a failure. Not just once, but multiple times. Simply stated: ABA doesn’t workIn study after repeated study: ABA (conversion therapy) doesn’t work. 

What more recent studies do show: Autistics who experienced ABA therapy are at high risk to develop PTSD and other lifelong trauma-related conditions. Historically, the autism organizations promoting ABA as a cure or solution have silenced Autistic advocates’ opposition. ABA is also known as gay conversion therapy.

The ‘cure’ for Autistics not born yet is the prevention of birth. 

The ‘cure’ is a choice to terminate a pregnancy based on ‘autism risk.’ The cure is abortion. This is the same ‘cure’ society has for Down Syndrome. 

This is eugenics 2021. Instead of killing Autistics and disabled children in gas chambers or ‘mercy killings’ like in Aktion T4, it’ll happen at the doctor’s office, quietly, one Autistic baby at a time. Different approaches yes, but still eugenics and the extinction of an entire minority group of people.

Fact: You can’t cure Autistics from being Autistic.

Fact: You can’t recover an Autistic from being Autistic.

Fact: You can groom an Autistic to mask and hide their traits. Somewhat. … however, this comes at the expense of the Autistic child, promotes Autistic Burnout (this should not be confused with typical burnout, Autistic Burnout can kill Autistics), and places the Autistic child at high risk for PTSD and other lifelong trauma-related conditions.

[Note: Autism is NOT a disease, but a neurodevelopmental difference and disability.]

Fact: Vaccines Do Not Cause Autism.

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