Families Make the Critical Difference in the Pace of Autism Research | March-April 1997 

[Note: Shared for #AutisticHistory archive purposes. This is NOT An Autistic Ally.]


Families Make the Critical Difference in the Pace of Autism Research 

The Advocate March-April 1997 

by: Portia Iversen & Jonathan Shestack 

  Families of people with autism have taken the lead in genetic research by forming AGRE, the Autism Genetic Resource Exchange. This is the world’s first truly collaborative gene bank for autism. It is administered with the highest scientific standards, but has the parent’s agenda at heart, namely that time is of the essence, and that the DNA of multiplex families must not belong to any one individual researcher, but must be a non-profit resource available to the entire scientific community. Its goal is to make over one hundred multiplex samples available to researchers within a year.

   Six months ago, a group of parents and researchers associated with CAN, the Cure Autism Now foundation, convened a brainstorm session in Santa Monica California and asked the question, “What can families do to increase the pace of genetic research?” The answer was, create a central database, a DNA repository that will be available to any researcher interested in studying autism. This resource must be administered by scientists, but controlled by parents. It must make the DNA available to universities and to industry at little or no cost.

   The way we think about disease and genetics has undergone a radical change in the last few years. Many of us used to think that saying something was genetic was the same as saying something was hopeless. Now we realize that quite the opposite is true. When the genes for a particular disease are discovered, the door is opened to a rational approach to treatment or a cure.

   While genetic research in other diseases has been moving forward at a rapid rate, the pace has been disappointingly slow in autism–even though most geneticists agree that autism is a highly heritable trait and that great advances are possible with aggressive genetic research.

   There are several reason for this. Insufficient government funding, a lack of researchers interested in autism, but primarily it is because of a serious shortage of DNA samples from families with more than one member affected by autism. These multiplex families are essential for research and it is prohibitively expensive and time consuming to gather them. Moreover, because autism is most likely a complex trait with more than one gene contributing to it, large sample pools are needed to do the genetic analysis. It has been extremely difficult and taken many years for even one university to be able to get that many samples. However, a central repository, with strong ties to the parent community and a willingness to trade with sharing researchers could easily reach those high numbers in a short period of time.

   AGRE’s goal is to “immortalize” 100 multiplex samples within one year. Immortalizing the cell line is a laboratory process in which the blood sample becomes an infinitely replenishable resource, thus allowing an unlimited number of qualified researchers to access this precious genetic material. AGRE will use this valuable resource to support current researchers, encourage prominent scientists in related fields to investigate autism and to encourage talented new researchers to enter the field. 

   The cost of gathering samples from 100 families, processing them, and readying them for distribution will be approximately $750,000. This is a substantial amount of money. Looking at this figure, it is painfully clear how little research is possible if each interested scientist is forced to start from scratch and recruit and immortalize their own hundred or more families. AGRE hopes to make all that unnecessary. Currently, there are three major research groups in the United States looking at the genetics of autism. Next year we hope there will be thirty —using the genetic material of the Autism Genetic Resource Exchange.

   An essential part of AGRE is a sharing researchers program which allows other researchers in the field to contribute their multiplex family samples to the gene bank and be given an equal number of samples in exchange, free of cost. AGRE has already identified several university research groups who are willing to exchange DNA samples with AGRE. Once the first one hundred DNA samples are established, it is not hard to imagine a day in the near future when AGRE will have three hundred or more multiplex samples, a number with enormous statistical power, and a resource that will inevitably attract the world’s best genetic researchers to the field. 

   The timing is particularly good for this type of enterprise.The automated technology now exists to do whole genome screening for the genes associated with autism in three to four months when not long ago it would have taken years. Furthermore, the National Institutes of Health, under the leadership of Child Health and Deafness and Communication is about to announce the funding of at least three and maybe more new genetic studies on autism. This is an extremely important development in autism research, and we feel that by making a large sample pool available, AGRE can be instrumental in helping these researchers attain success. The Senate Health and Human Service Committee this year strongly recommended that the NIH support a collaborative gene bank in autism, and CAN and AGRE are currently working hard with the NIH to design a mechanism that encourages NIH funded researchers to use and add to this resource.

   AGRE has sought out an experienced and well-respected partner to help administer the gene bank. It is HBDI, the Human Biological Data Interchange of Philadelphia. This is an eight year old organization that has already set up a very successful gene bank and family data base for diabetes. HBDI has extensive experience in sample collection, quality control and repository administration. AGRE is pleased to have access to their expertise and particularly the leadership of Lee Ducat, President of HBDI and founder, 26 years ago, of the Juvenile Diabetes Foundation.

   Families sit on the board of AGRE and are essential in shaping its policy. In addition, AGRE has sought out leading geneticists. These include T. Conrad Gilliam Ph.D., Professor of Genetics and Development, Director of Gene Mapping Unit Columbia Genome Center. Gilliam has done important work on Huntington’s chorea and other diseases in the past and currently specializes in complex, heritable neuropsychiatric disorders. W. Ted Brown, M.D., Ph.D. Chairman of the Department of Human Genetics and Director of the Jervis Clinic N.Y.S. Institute for Basic Research, Staten Island. Dr. Brown is a world renowned specialist in the genetics of developmental disorders including Fragile X syndrome. Stanley F. Nelson, M.D. is Assistant Professor of Pediatrics, Biological Chemistry and Psychiatry at UCLA, specializing in molecular genetics. Dr. Nelson is a pioneer in the development of leading edge Genomic Mismatch Scanning technology. Jerry Rotter, M.D., Ph.D., Director of Medical Genetics at Cedar Sinai Medical Center, Los Angeles, is a leading population geneticist. Reed P. Warren is Professor of Biology at Utah State University, specializing in the Immunogenetics of autism.

   AGRE hopes to reach out to the ASA and NAAR and other family voluntary oraganizations for their support and cooperation. History makes it clear that if families affected by autism wait for other people to get around to helping them, they will have to wait a very long time indeed. It is only by taking control of the resources and research process that families can mandate cooperation and keep the momentum high. We believe that the successful implementation of AGRE will accelerate progress in autism research by at least a decade. We are very excited and proud to be in a position to make such a critical difference in the pace of autism research. 

   If you are a multiplex family and/or want more information about AGRE contact Marianne Toedtman R.N., AGRE Family Coordinator available at: 1 (888) Autism 2, or E-mail: familyAGRE@aol.com 

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