ND NATIONAL DOWN SYNDROME SOCIETY 666 BROADWAY NEW YORK, NY 10012 212-460-9330 or 800-221-4602 Fax: 212-979-2873 BACKGROUND The National Down Syndrome Society was established in 1979 to deal with the multifaceted questions related to Down Syndrome. The major goals of the agency are to promote a better understanding of Down Syndrome and the potential of the person with Down Syndrome, to support research about this genetic disorder, and to provide services for families and individuals. During its brief history NDSS has focused on disseminating accurate, up-to-date information on Down Syndrome to parents and professionals. To accomplish this the Society has produced a public information packet including a booklet entitled "This Baby Needs You Even More," which is supplemented by a bibliography of reading materials and a series of fact sheets. A list of parents groups and early intervention programs in each state is also available. Over 150,000 copies of this material in both English and Spanish have been distributed. In addition, à 25 minute videocassette about the child with Down Syndrome ages birth to six, entitled "Gifts of Love," is available on a loan basis. A newsletter, "National Down Syndrome Society Update" is also published. In 1983 NDSS began to actively support research into Down Syndrome by making a science scholar award available to promising young scientists who are involved in innovative research in either basic or applied fields that are related to Down Syndrome. Currently three researchers are being supported with two year grants of $25,000 per year. We know that the scientific tools to uncover the answers are now available; it is the hope that by offering these research awards the Society will encourage promising young investigators to utilize their skills in areas which are closely aligned with the kind of research that is necessary to solve the mysteries of Down Syndrome. In 1984 NDSS began the sponsorship of an annual research symposium, which brings together the foremost international scientists. They discuss their research in the hope of moving science forward toward new breakthroughs in the search for the cause and amelioration of Down Syndrome and related concerns such as leukemia and Alzheimer's disease, and a cure for mental retardation. The proceedings of the symposium on the molecular genetics of Down Syndrome have been published by the New York Academy of Sciences, the proceedings of the second symposium about the Neurobiology of Down Syndrome and Alzheimer's disease by Raven Press, "The Immunology and Oncology of Down Syndrome" by Alan R. Liss, "The Psychobiology of Down Syndrome" by MIT Press, and "Molecular and Cytogenetics of Non-Disjunction" by Alan R. Liss. The December, 1989 meeting focused on the mapping of the number 21 chromosome and Down Syndrome, and the proceedings are being published by Alan R. Liss. (con't) An 800 "hotline" is available at all times to parents, relatives, professionals and interested individuals. The hotline enables people to receive information, referral to resources thoughout the country, and to ask questions of interest to them, their families, etc. Because of the need to address specific areas of concern among families with Down Syndrome, NDSS has initiated several pilot demonstration programs including a respite program, an education mainstreaming project, and a home-based computer education program. Materials have been developed so that local groups can replicate the programs in communities across the country. Of course, all this can only happen if the Society succeeds in raising funds. Toward this end, NDSS will continue to look to foundations, corporations and individuals for support to help solve the anomaly of Down Syndrome. GENETIC TECHNOLOGY NEWS CTN Section of Biotechnology Information Packac Volume 9, Number 1 TECHNICAL ISSN 0272 9032 January 1989 RFLPS Make Down Syndrome a Little Clearer. A cure: Down syndrome or a way to prevent it is nowhere in sight yet. However, RFLPs (restriction frazzant length polymorphisms) techniques are beginning to make it possible to focus on the basic more.ar biology involved in this genetic disorder. This may open up ways of coping with the syndrome a: me future date. For starters, recent experiments show that in 19 out of 21 instances of Down syncome studied, the abnormality originated in the mother, not the father, GTV heard from Terry Hassold: Emory University at the twelfth annual National Down Syndrome Society Symposium in New Yor last month. Down syndrome is the most common form of menta tardation. It occurs in about 1 of every 800 births. It is one of a number of different disorders cause by abnormalities involving extra chromosomes. Each cell in the body of an individual with Dow yndrome contains an extra copy of chromosome 21. Standard complement of chromosomes per huma cell is 23 pairs of chromosomes. A chromosome contains DNA making up thousands of genes p. great deal of extra DNA whose function, if any, is unknown. The extra chromosome in a person with Down sync:me originates in one of the parents' germ cells -- the mother's egg cell or the father's sperm cell. Thes ells differ from other cells in the body in that they contain only half of the normal complement c romosomes -- so that when they combine. the resulting fertilized egg cell contains the full complement. During the last few cell divisions leading to their formation, germ cells undergo a certain number recombinations in which chromosomes are paired and then unpaired. During this process crossing- er may take place. Part of the DNA from one chromosome may exchange with that of its mate. Failure of chromosomes to pair is one cause of the lized egg cell's receiving the extra chromosome 21. But Hassold's study indicates that crossing-ov probably involved too. The experiments showed that it occurred in 4 of the 19 cases where Downdrome originated in the mother. RFLPs make it possible to identify slight difference: DNA (polymorphisms) among individuals and sometimes to pinpoint abnormalities in the DNA. P: morphisms can be detected by digesting DNA with a restriction enzyme, which cuts it at specif. es. Gel electrophoresis sorts the fragments according to length. DNA probes can detect a fragmen : abnormal length. If a DNA abnormality is found close to some portion of the DNA of interest, suss a gene, it can serve as a marker to help pin down the location of the gene on the chromosome. Using this approach, Aravinda Chakravarti and courers at the University of Pittsburgh find not only that multiple recombination events take place in Don syndrome, but also in ovarian teratomas. These are growths, mostly benign, whose cells have an eure set of extra chromosomes. The mechanisms that gives rise to this abnormality may be the sam s the one that causes Down syndrome. Chakravarti is also trying to differentiate abnormalities the chromosomes themselves from those on centromeres -- the DNA sequences that link chromosome together. Preliminary data reported by Patricia Jacobs of Brita's Salisbury General Infirmary indicate that some of the mistakes that give rise to the extra sex chrezosomes that occur in some people are the same as those that bring about Down syndrome. About 5% of the sex chromosome mistakes are due to excess recombination, especially near the centromere. Research on Down syndrome may also be useful in erning more about certain other disorders caused by abnormal chromosomes. It could also be heitt. in learning more about other disorders that Down patients develop with a greater frequency than nemal people. These include congenital heart disease, leukemia, and Alzheimer's. Individuals with Don syndrome also age more rapidly than other people. However, making connections among these conons will not be easy. So far, it has not been possible to tie any of the aspects of Down syndrome witny particular protein that might be expressed by genes in the extra chromosome. Details: Dr. Terry Hassold, Dept. of Pediatrics. Di Medical Genetics, Emory University School of Medicine, 2040 Ridgewood Dr., Atlanta, GA 30322 Fone: 404-727-5840. Dr. Aravinda Chakravarti, Graduate School of Public Health, Dept. of Biostatics, University of Pittsburgh, Pittsburgh, PA 15261. Phone: 412-624-3022. Dr. Patricia A. Jacobs, sex Regional Cytogenetics Unit, Salisbury General Hospital. Salisbury, Wiltshire SP2 7SX. U.K MEDICINE THE WAR ON DOWN SYNDROME Valuable early instruction: therapists and mothers exercise Down syndrome babies at the William O'Connor School in Brooklyn. physical disorders. The affliction is Down syndrome." Its outward signs-the characteristic slanting eyes. dat face and small nose, stubby hands and stocky build-have little to do with its major health problems, which are internal and far more serious. More than 40 per cent of Down children have congenital heart de formities, which are the principal cause of death in infants who have the syndrome. Many are born with undeveloped digestive tracts that require extensive surgery to correct. Their immune systems are often unusually immature, which puts them in peril of severe bacterial and viral infections. Victims are 15 to 20 times more prone to leukemia than normal people, and nearly all who live beyond the age of 35 will develop Alzheimer's disease, the destructive adic tion of senility. Early in the century most Down victims were sent to institutions. where they soon died: in 1910 their mean life span was nine years. Today, with better care, fully 80 per cent live to the age of 50. As their life expectancy has gone up along with that of the general population, the number of Down sufferers in the U.S. has grown dramatically: it now stands at more than 250,000, and increases by about 5,000 a year. "Named for the English doctor Langdon Down, who in 1866 described the physical fes tures of children with the syndrome. Because of the tilt of many victims' eyes, the disorder was long called mongolism, and its victims mongoloids. Later it became known as Down's syndrome. Now health professionals have shortened the name, reasoning that beCause Dr. Down never had the disorder himself, the possessive is inaccurate. |