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Testimony on NIH Research on Human Biology and Disease by Harold Varmus, M.D.
Director, National Institutes of Health
U.S. Department of Health and Human Services

Before the House Commerce Subcommittee on Health and the Environment
September 30,1997

Mr. Chairman and Members of the Subcommittee, I am Harold Varmus, Director of the National Institutes of Health. Accompanying me today, at the Subcommittee's request, are: Francis Collins, Director, National Human Genome Research Institute; Donald Lindberg, Director, National Library of Medicine; David Lipman, also from the National Library of Medicine; Zach Hall, Director, National Institute of Neurological Disorders and Stroke; Richard Hodes, Director, National Institute on Aging; and Anthony Fauci, Director, National Institute of Allergy and Infectious Diseases. We are pleased to have this opportunity to discuss with you some of the research supported and conducted by the NIH, what we are learning from it about human health and disease, and some of the research tools we are developing to not only facilitate that research, but to ensure that knowledge gained from it is accessible to the scientific community and to the public.

The NIH seeks to expand fundamental knowledge about the nature and behavior of living systems and to apply that knowledge to improve the health of human beings. The research undertaken by the NIH assumes many forms, occurs in many places, and employs many techniques. Some research is confined to the laboratory and attempts to understand complex biological systems by examining individual molecules, cells, or tissues. Other research addresses normal human biology and disease in the context of living subjects and some is based on the study of human populations. This continuum of research provides the knowledge base for the development of new treatment and prevention strategies.

About ten percent of NIH-funded research takes place in the NIH intramural program; the rest is conducted at nearly 2000 institutions which receive grants, contracts, and cooperative agreements awarded by the NIH after competitive expert review. Both intramural and extramural research activities address a wide spectrum of biological and medical questions with methods that range from structural analysis of macromolecules to clinical trials to behavioral studies. In addition, the NIH takes responsibility for the training of new medical scientists through programs designed to assist undergraduates, graduate, and post-graduate students in both extramural and intramural settings.

These several genres of research activity are supported by funds allocated to twenty-one Institutes and Centers (ICs), each of which has authorities defined by earlier legislation. Eight ICs address specific health problems: the National Cancer Institute, the National Institute of Allergy and Infectious Diseases, the National Institute of Diabetes and Digestive and Kidney Diseases, the National Institute of Neurological Disorders and Stroke, the National Institute on Drug Abuse, the National Institute on Alcohol Abuse and Alcoholism, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the National Institute of Mental Health. Four ICs are organized around biological systems: the National Heart, Lung, and Blood Institute, the National Eye Institute, the National Institute on Deafness and Other Communication Disorders, and the National Institute of Dental Research. Two ICs focus on stages of human development: the National Institute of Child Health and Human Development and the National Institute on Aging. Four other ICs study particular aspects of human health or area of science: the National Institute of Enviromnental Health Sciences, the National Institute of General Medical Sciences, the National Institute for Nursing Research, and the National Human Genome Research Institute.

Other ICs provide research infrastructure. The National Center for Research Resources supports research infrastructure including shared instrumentation programs and centers for clinical research located across the Nation; the Fogarty International Center fosters international scientific collaborations; and the National Library of Medicine acquires, organizes, and disseminates health information and engages in research and development in biomedical communications. The NIH organization also includes three independent Divisions without budgetary authority. The Center for Scientific Review (formerly the Division of Research Grants) and the Division of Computer Research and Technology carry out research management functions involved in the review of grant applications and maintenance of our information infrastructure, while the NIH Clinical Center supports nearly 50 percent of all the federally-funded clinical research beds in the Nation and helps translate basic science discoveries of intramural and extramural investigators into clinical applications that improve human health.

Although each of the ICs has a specific research orientation, there are many commonalities. Most obvious are the shared technical approaches to medical research and the common locations for research within the intramural and extramural programs. In addition, ICs often address different aspects of the major health problems faced by our citizens. This feature is strengthened by close interactions among the ICs; these may be informal or they may be guided by inter-IC committees or by NIH-wide coordinating offices, some of which are located within the Office of the Director, NIH. This rich matrix of research activity requires collegial relations among the ICs and thrives in an atmosphere that maximizes flexibility in the management of research programs. A major objective of my administration at the NIH has been the enrichment of these interactions and a strengthening of the sense of unified purpose.


When I began as Director of the NIH nearly four years ago, I pledged to remain firmly committed to scientific excellence, to defend open-ended basic science, and to encourage the extension of discoveries to clinical settings. These goals are shared by all of the NIH leadership, including the Institute Directors you will hear from today. I believe that you will see many examples of the fruits of that commitment, not only in our presentations today, but in the months and years that follow. I would be pleased to answer any questions you may have.


In creating the National Institute on Aging in 1974, Congress recognized the potential for aging research to extend the healthy lifespan and improve the quality of life of generations of older Americans. In the intervening years, the NIA has made significant strides toward understanding the biological, behavioral, and social aspects of aging, discovering factors that lead to age-related disease and disability, and developing strategies for maintaining health and independence in old age. This knowledge is benefitting all generations. Knowing that aging does not equate to inevitable decline, individuals of all ages are devoting more effort to maintaining fitness and preventing disease. Despite the unprecedented growth of the older population, studies have shown declines in a number of chronic disease since the early 1980s, and analyses suggest a concomitant decline in overall disability rates in older people.

The NIA is the primary federal agency conducting and supporting biological, behavioral, and social research on aging, age-associated disease and disability, and the special problems and issues of the aged. The Institute is composed of four extramural programs: the Biology of Aging Program, the Behavioral and Social Research Program, the Geriatrics Program, and the Neuroscience and Neuropsychology of Aging Program. In addition, NIA scientists conduct intramural research in laboratories located in Bethesda and Baltimore, Maryland, site of the nearly 40-year-old Baltimore Longitudinal Study of Aging. Following is a brief description of selected areas of investigation supported by the NIA:

Alzheimer's Disease. The NIA leads the national research effort on Alzheimer's disease, the most common cause of dementia in older people. This devastating condition destroys the lives of those who have the disease and disrupts the lives of their caregivers. Over the last five years, research has resulted in major advances in our understanding of the disease, including the discovery of genetic components, detection of risk factors, and identification of potential protective interventions. Several of these findings have stimulated plans for new clinical trials to prevent or delay the onset of Alzheimer's disease. For example, compelling evidence suggests that candidate compounds, such as anti-oxidants, anti-inflammatory agents, and estrogen, may delay or prevent AD, and additional therapeutic leads are expected from preliminary trials now in progress.

As the pace of research accelerates, new findings will make possible better understanding of factors contributing to nerve cell death and will improve our ability to predict who is at risk for developing Alzheimer's disease. Further discoveries will lead to more accurate methods of diagnosis, and to the development of more effective treatments and preventive interventions to reduce the scourge of Alzheimer's disease.

Biology of Aging. NIA's basic research on the biology of aging investigates the gradual or programmed alterations of structure and function that characterize normal aging and the abnormal changes that accompany, or serve as risk factors for, disease states. The ultimate goal is to develop interventions, based on an understanding of molecular and cellular processes, to reduce or delay age-related degenerative processes in humans.

For example, in a number of disease conditions, the ability of cells to divide or replicate is altered. In some conditions, such as cancer, cells divide in an excessive and uncontrolled manner. In other circumstances, a deficiency in the ability of cells to divide may contribute to disease and disability. NIA is making progress in understanding the molecular mechanisms that regulate cell replication. This knowledge may lead to interventions that will correct such abnormalities and provide new therapeutic approaches to cancer and other disease processes.

NIA researchers have discovered in mamnmals and lower organisms several "longevity genes" that have provided insight into biologic control of life span. Continued research on longevity assurance genes is viewed as a critical first step in the design of biologically based interventions to promote human longevity, extend health span, and improve quality of life in older individuals. Research is also continuing on caloric restriction, which has been shown to extend lifespan in rodents by as much as 35 percent, as well as reduce their incidence of age-associated diseases.

Musculoskeletal Research. The loss of bone mass due to osteoporosis is a major public health threat, contributing to 1.5 million fractures annually. Osteoarthritis and age-related loss of muscle mass also lead to frailty and injury in millions of older people. The NIA supports several initiatives to unravel the underlying mechanisms of musculoskeletal aging and to design and evaluate effective prevention and intervention strategies for age-related musculoskeletal decline.

Cardiovascular Aging. Cardiovascular diseases are the leading cause of hospitalization and death in older Americans. NIA research has provided important insights into age-related changes of the cardiovascular system and their relation to disease and disability. Ongoing research emphasizes preventive and therapeutic interventions designed to reduce cardiovascular disease.

Aging and Cancer. Cancer is the second leading cause of death among the elderly. NIA's program on aging and cancer aims to apply scientific and technologic advances on malignancies to the needs of older people. Areas of study include biology, clinical medicine, epidemiology, and the behavioral and social sciences. Special initiatives are directed at prostate cancer and breast cancer in men and women over age 65.

Aging and Disability. NIA studies are demonstrating the benefits of a healthy lifestyle for maintaining physical and mental vigor into old age, and are developing innovative strategies to help prevent disability that leads to long-term care. One cost-effective controlled trial conducted in one of NIA's Claude Pepper Older Americans Independence Centers reduced falls in older people by nearly 50 percent in a one-year period. Since older persons sustain 250,000 hip fractures each year, a substantial national cost savings could result from incorporating risk factor interventions into the usual health care of older persons.

Based upon data from National Long Term Care Surveys in 1982, 1989, and 1994, prevalence rates for chronic disability were shown to decline significantly in the U.S. elderly population, ages 65 and older. In absolute terms, the differences in prevalence suggest that there were approximately 1.2 million fewer disabled persons in 1994 than would have been predicted if the 1982 rates had remained the same. NIA plans to analyze the dynamics underlying this apparent decline to enhance this trend.

Behavioral and Social Research. NIA's Edward R. Roybal Centers of Research on Applied Gerontology conduct research with the goal of keeping people independent, active, and productive in later life. Investigators at these centers focus on translating promising social and behavioral research findings into strategies to help improve the lives of older people and their families in such areas as computer skills, driving, caregiving, and nursing home care.

Difficulty in remembering is one of the most commonly reported problems that troubles Americans as they age. NIA has made a substantial investment in basic research on age-related changes in cognitive fuction in the absence of detectable brain disease. Studies have shown that age-related decrements in cognitive function could be reversed with targeted training. Research continues to develop and test new cognitive interventions to promote independent functioning among older adults.

Health and Long-Term Care. NIA research also emphasizes improved understanding of the interactions between older patients and health systems. The Institute studies ways of improving acute health care for older people, including improving older people's compliance with medical regimens. Researchers are studying ways to enhance the quality of long-term care, ease the burden of family care, and forecast the requirements for long-term care.

Health and Retirement. The unique Health and Retirement Survey, which is following nearly 13,000 people for at least 12 years, will provide the first up-to-date picture of work and retirement and how these factors relate to health and midlife family roles in the 1990s. This study will examine the transition between work and retirement, with emphasis on sources of retirement income and health care needs. Survey data will be critical for analyzing social security and health care issues.

Women's Health. After menopause, women lose bone density and strength, and become more prone to developing diseases and disorders, such as osteoporosis, osteoarthritis, cardiovascular disease, urinary incontinence, and Alzheimer's disease. There is also evidence that women of various ethnic and racial groups experience and respond to menopause differently. NIA's recently initiated Study of Women's Health Across the Nation (SWAN), co-funded by the National Institute on Nursing Research and the Office of Research on Women's Health, will gather valuable new information on aspects of menopause from women in diverse populations. This information will help in designing future clinical interventions on health conditions associated with menopausal changes.

Minority Aging. NIA's minority aging activities comprise clinical and epiderniologic research on the health and well-being of minority elders, demographic studies on the growth of minority populations, and efforts to facilitate recruitment of minority individuals into clinical studies. Six NIA centers have been funded to improve the health status of older minority populations through research and programs of health education and community outreach.

Additional information on NIA programs and research advances can be accessed on the internet at www.nih.gov/nia/.


The NIAID has its origins in the earliest days of the Public Health Service. In 1948, the Rocky Mountain Laboratory and the Biologics Control Laboratory, both dating to 1902, joined the Division of Infectious Diseases and the Division of Tropical Diseases of the National Institutes of Health to form the National Microbiological Institute. Six years later, Congress gave the Institute its present name to reflect the inclusion of allergy and immunology research. Today, NIAID provides the major support for scientists conducting research aimed at developing better ways to diagnose, treat and prevent the many infectious, immunologic and allergic diseases that afflict people worldwide.

NIAID is composed of four extramural divisions: the Division of AIDS; the Division of Allergy, Immunology and Transplantation; the Division of Microbiology and Infectious Diseases; and the Division of Extramural Activities. In addition, NIAID scientists conduct intramural research in laboratories located in Bethesda, Rockville and Frederick, Maryland, and in Hamilton, Montana.

Acquired Immunodeficiency Syndrome (AIDS). NIAID is responsible for conducting and supporting basic research on the pathogenesis of human immunodeficiency virus (HIV), which causes AIDS; developing new drug therapies; conducting clinical trials of promising experimental drugs for HIV infection and related opportunistic infections and cancers; carrying out epidemiologic studies to assess the impact of HIV on the populations most severely affected by the epidemic; and developing and testing HIV vaccines.

Asthma and Allergic Diseases. Research on asthma and allergies has revealed much about their underlying mechanisms and contributed to the development of new ways to help affected individuals. NIAID has established a network of asthma, allergic, and immunologic diseases research centers to transfer results rapidly from fundamental studies in immunology and clinical studies of allergy to clinical practice. The Institute also supports the National Cooperative InnerCity Asthma Study to define factors that influence the disease's severity and to design and evaluate programs to reduce asthma episodes and deaths among African-American and Hispanic children.

Emerging diseases. New diseases are arising worldwide and old diseases are re-emerging as infectious agents evolve or spread and as changes occur in ecology, socioeconomic conditions, and population patterns. NIAID conducts and supports research on Lyme disease, hantavirus, multidrug-resistant tuberculosis, and other emerging diseases to develop new or improved diagnostics, treatment, and vaccines.

Enteric Diseases. Worldwide, diarrheal diseases such as cholera and rotavirus infection are major causes of illness and death in infants and children. In contrast, viral hepatitis in its various forms, can cause severe disease in older children and adults, although it produces few symptoms among younger age groups. NIAID supports basic research on how enteric agents cause illness as well as studies aimed at developing and testing vaccines to prevent enteric infections.

Genetics and Transplantation. NIAID supports studies aimed at improving immunosuppressive therapies, further developing reagents needed for precise tissue matching, defining the genetic regulation of the immune response, and understanding the molecular mechanisms that control immune system genes. NIAID is participating in the first NIH cooperative clinical trial in kidney transplantation, designed to translate developments in basic research into new therapies to prevent graft rejection.

Immunologic Diseases. The immune system is a complex network of specialized organs and cells that has evolved to defend the body against attacks by foreign invaders. When functioning properly, the system fights off infections by such agents as viruses and bacteria. A malfunction, however, can unleash an enormous variety of diseases from allergy to arthritis to cancer. NIAID research focuses on the basic biology of the immune system and mechanisms of immunologic diseases including autoimmune disorders.

Malaria and Other Tropical Diseases. Diseases such as malaria, filariasis, trypanosomiasis, and leprosy disable and kill millions of people worldwide. NIAID's research efforts in tropical medicine are conducted by U.S. and foreign investigators receiving Institute support and by NIAID scientists in Bethesda. NIAID supports a number of centers for tropical medicine research in countries where such diseases are endemic.

Sexually Transmitted Diseases. More than 13 million Americans each year acquire infectious diseases other than AIDS through sexual contact. Such STI)s as gonorrhea, syphilis, chlarnydia, genital herpes and human papillomavirus can have devastating consequences, particularly for young adults, pregnant women and newborn babies. NIAID-supported scientists in STD Cooperative Research Centers, NIAID laboratories, and other research institutions are developing better diagnostic tests, improved treatments, and effective vaccines.

Vaccine Development. Effective vaccines have contributed enormously to improvements in public health in the United States during the last century. Research conducted and supported by NIAID has led to new or improved vaccines for a variety of serious diseases, including rabies, meningitis, whooping cough, hepatitis A and B, chickenpox, and pneurnococcal pneumonia, to name a few. NIAID supports vaccine evaluation units for the testing of new vaccines in people at a number of U.S. medical centers.

Other areas of research include fungal diseases, hospital-associated infections, chronic fatigue syndrome, respiratory diseases, and antiviral and antimicrobial drug development.


The National Human Genome Research Institute (NHGRI) was established in 1989 and originally named the National Center for Human Genome Research (NCHGR). Its chief mission is to lead the NIH's contribution to the Human Genome Project-a worldwide research effort to determine the location of the estimated I 00,000 human genes and to read the entire sequence of genetic instructions encoded in human DNA. NHGRI carries out this task by providing financial support to investigators at university and other research laboratories throughout the United States. The Institute also has inhouse genetics research laboratories, created in 1993, to develop and use genome technologies to understand and treat inherited disease.


The Human Genome Project (HGP) is an international research program launched seven years ago, carried out in the US by the NHGRI and the US Department of Energy (DOE). The ultimate HGP task of sequencing all 3 billion base pairs in the human genome will provide scientists with a virtual instruction book for a human being. From there, researchers can begin to unravel biology's most complicated processes, including the cause of many human diseases.

The first five years of the HGP were primarily devoted to the development of genetic and physical maps that allow precise localization of genes, and the exploration of technologies capable of sequencing very large amounts of DNA at high accuracy and low cost.

Pilot projects were initiated in 1996 to address and resolve issues that will be confronted in large-scale sequencing of human DNA. These pilot projects will generate between 50 and 100 million base pairs of human DNA sequence by 1998 and, in doing so, will develop and test the methods that will be used in the determination of the complete human DNA sequence. To date, about 2% of human DNA has been sequenced from these projects. The goal is to sequence the entire genome by 2005.

Analysis of the genomes of several important model organisms is also included in the Project's goals. The genomes of 8 micro-organisms have been sequenced so far, including most recently the well-studied bacterium E. coli. The complete sequence of the genome of baker's yeast was completed in the spring of 1996, an important step because yeast resemble human cells more closely than do bacteria. The sequence of the 100 million base pairs of the roundworm C elegans, an important model of development, will be completed in 1998.


Already as a result of the HGP, new disease genes are discovered almost weekly. Recent successes include genes for breast cancer, diabetes, Alzheimer's disease, and colon cancer. When scientists identify a disease gene, they can begin to understand the illness at a molecular level, and therefore over time can develop appropriate strategies for treatments and even cures. In addition, the development of accurate diagnostic tests can, in some instances, be life-saving. To date, over 80 disease genes have been identified by positional cloning, the gene hunting strategy that uses HGP tools.

The NHGRI intramural program is a leader in this gene discovery process. In just the past year, NHGRI investigators have located a gene for prostate cancer, and precisely identified genes for Parkinson's disease, a cancer syndrome called MENI, a breast cancer gene called AIB I, and the childhood disorders Niemann-Pick type C and Alagille syndrome.


The development of novel technologies for DNA analysis is an integral component of the HGP. Of the many such advances over the past seven years, two examples are presented here:

Spectral Karyotyping (SKY), developed by NHGRI Intramural scientists, translates computer-gathered light waves into a full-color palette and assigns each chromosome its own distinct hue. With all 23 pairs of human chromosomes identified by a different color, scientists can more easily examine the entire group of chromosomes for subtle changes that could lead to disease, such as missing or extra pieces, or parts from different chromosomes that have swapped places. The technique is already proving to be extremely valuable in diagnosis of disease based on chromosome alterations.

DNA Microchip Analysis: Borrowing from semi-conductor science, scientists have been working to develop miniature devices that will allow hundreds, thousands, or millions of DNA assays to be carried out on a device smaller than a credit card. Robots produce arrays of thousands of microscopic spots of DNA that represent parts of genes on a "DNA array chip." All cells of an organism contain the same genes, but the pattern of genes being turned on or off is critical to the health of that tissue. Researchers can use this technology to characterize the differential expression of genes in different tumor types, or to identify specific gene mutations. This allows the development of more precise diagnostic criteria for different cancers and more individualized and effective treatments.


In addition to studies of disorders that arise from errors in one gene, NHGRI scientists are investigating new strategies to tease apart the genetic and environmental contributions to common complex disorders, such as many cancers and diabetes. Impressive progress has been made for several disorders.

The Center for Inherited Disease Research: Virtually all of us are predisposed by our inheritance to at least one illness-cancer, heart disease, diabetes to list a few. We are striving to learn more about the complex gene interactions that confer disposition to these common diseases. CIDR was established in 1996 through an agreement among 8 NIH

Institutes, with NHGRI serving as the lead. The CIDR facility, located at the Johns Hopkins Bayview Medical Center, is dedicated to providing the research community with the infrastructure to successfully map the genes responsible for complex diseases. This marks a transition from "one gene-one disease" research into the study of gene-gene and gene-environment interactions.


As an integral part of the HGP, the NHGRI has set aside a portion of its funding to anticipate, analyze, and address the ethical, legal, and social implications (ELSI) of the Project's new advances in human genetics.

The ELSI program has established four priority areas: privacy and fair use of genetic information; responsible clinical integration of new genetic technologies; ethical issues surrounding the conduct of genetics research; and professional and public education about these issues.

A major focus of the ELSI project over the past year has been to work to ensure the responsible use of genetic information. The number of genetic tests available to consumers is increasing at a rapid rate. Although these tests have great potential to be beneficial to patients and their families, there is also potential for misinterpretation or misuse. Safeguards must be in place to protect individual privacy and prevent insurance and employment discrimination.

On July 14, 1997 President Clinton announced that the Administration will support specific legislation to prohibit health insurers from using genetic information to discriminate. The Administration's position is modeled on the recommendations developed by the NIH-DOE Joint Working Group on the Ethical, Legal, and Social Implications of Human Genome Research (the ELSI Working Group) and the National Action Plan on Breast Cancer.

More information about NHGRI research can be found on the Internet at www.nhgri.nih.gov.


The National Institute of Neurological Disorders and Stroke (NINDS) supports basic and clinical research on brain and nervous system disorders. There is a growing awareness of the importance of diseases of the brain in our society. In part this arises because our population is aging, and diseases of the brain become more prevalent as one gets older. It is also due to the growing awareness of the importance of a healthy nervous system in early childhood and the brain's role in many problems that have not traditionally been considered as biologically based diseases, conditions such as autism or addiction or Tourette's syndrome. NINDS shares with a number of other Institutes and Centers at NIH responsibility for research on the brain, and cooperates with them in areas of mutual research interest.

NINDS has responsibility for more than 600 neurological disorders that affect every age of the life span, ranging from well-known disorders such as stroke, Alzheimer's disease, and epilepsy, which affect millions of Americans, to a host of less well-known disorders that may affect a only few hundred Americans, but are nevertheless devastating to those with the disease and to their families. Most NINDS-funded research is conducted by extramural scientists in public and private institutions, such as universities, medical schools, and hospitals. They compete for grants and contracts that account for more than 80 percent of the Institute's annual budget. NINDS intramural scientists, working in 22 Institute branches and laboratories, also conduct a wide array of neurological research, ranging from studies uncovering structure and function in single brain cells to tests of new diagnostic tools and treatments for those with neurological disease. By supporting and conducting neurological research, the NINDS seeks better understanding, diagnosis, treatment, and prevention of these disorders.

To achieve this goal, the Institute relies on both clinical and basic investigations. Clinical research applies directly to disease detection, prevention, and treatment, as in studies of brain imaging techniques and in trials to test new drugs or surgeries for stroke. Although scientists studying the brain have made astounding progress in recent years, a great deal is still not known about its complex functions. Basic research pursues an understanding of the structure and activities of the human nervous system. The answers gained through this research can create the foundation for diagnosing and treating brain disease in the future. Learning how the brain stores memory, for example, may help scientists determine what happens when memory fails and may even suggest possible ways to treat certain dementias.

NINDS sponsors a rich portfolio of research focusing on disease and disability associated with the aging brain, including Parkinson's disease and stroke, two major areas of need and opportunity.

Parkinson's Disease. Parkinson's disease (PD) usually strikes in late middle age and affects more than a half million Americans. It impairs control of movement, progressing from symptoms such as tremor and muscular rigidity to total disability and death. Parkinson's disease, like Alzheimer's disease, amyotrophic lateral sclerosis (ALS), and Huntington's disease, is a neurodegenerative disease, the causes of which remain largely unknown. Clinical trials are underway to evaluate several pharmaceutical and surgical interventions to treat PD. Promising studies of new drug therapies for PD are continuing. Scientists conducting basic research studies are investigating the genetic and cellular origins of the disease, and have discovered the gene for one form of PD. These genetic findings open up the possibility for new understanding of the disease and development of new therapies.

Stroke. For several years, NINDS has been reporting significant new findings in the prevention of stroke. In 1995 NINDS-supported research led to the identification of the first emergency treatment for stroke in which a clot blocks a major brain artery. Clinical trial results showed that the drug, tissue plasminogen activator (t-PA), increases chances for recovery by at least 30 percent if given within three hours. The trial findings will guide future attempts to develop additional treatments for stroke. Moreover, the trial demonstrated how community health care systems can organize to provide swift high quality care. To insure such prompt treatment, NINDS is working with patient and professional organizations to publicize the research results, helping public and health care professionals organize acute stroke treatment in a variety of settings.

NINDS also supports research on many neurological disorders that affect the entire lifespan. Examples include:

Epilepsy. Epilepsy refers to a group of disorders which have in common recurrent seizures that are usually unprovoked and unpredictable. Seizures are caused by abnormal activity in the brain and take many forms depending on what parts of the brain are involved. In about half the cases no cause can be found, but head injuries, brain tumors, lead poisoning, problems in brain development before birth, and certain genetic and infectious illnesses can all cause epilepsy. Medication controls seizures for the majority of patients, who are otherwise healthy and able to live full and productive lives. On the other hand, at least 200,000 Americans have seizures more than once a month. Their lives are devastated by frequent, uncontrollable seizures or associated disabilities. As part of an international coalition including the Human Genome Project and scientists from Finland, NINDS-supported investigations discovered a gene for one form of epilepsy. Understanding the processes involved in this form of epilepsy opens up an entirely new area of research that may provide insights about the cause of many forms of epilepsy. This discovery should lead to a screening test, and perhaps to a better understanding of what causes epilepsy and to new treatment approaches. In addition, NINDS is conducting and supporting many ongoing research efforts to identify and test new therapies.

Brain and Spinal Cord Injury. One reason trauma to the central nervous system has such severe consequences is that neurons in the brain and spinal cord fail to regenerate after damage. Now we know they make unsuccessful attempts to regenerate, and in some circumstances can be coaxed to regrow. NINDS is encouraging research in several areas with potential for success:

  • High dose methylprednisolone, the first therapy to improve the outcome of spinal cord injury, is now regularly used in emergency rooms. The effects of longer methylprednisolone treatment and of a new class of drugs are now being studied.

  • Efforts to understand and repair trauma of the brain and spinal cord are continuing, using grafts, nerve bridges, cell implants, cell survival factors, antibodies, and genetic engineering. The potential use of newly-discovered neural progenitor cells, nerve cells that may have the capacity to replace cells lost because of trauma, is also under investigation.

  • Neuroprosthetic devices connect with the nervous system via electrodes to stimulate muscles or provide sensory input. For example, a neural prosthesis developed with NINDS support and recently recommended for approval by the FDA restores hand function to quadriplegics. Future research goals include a splint-free system to allow a paraplegic person to rise, stand and sit again without assistance, and technologies to control muscles using direct brain signals instead of a functional neuromuscular stimulation implant.

Disorders of the Developing Nervous System. More than a third of all genetic disorders affect the nervous system, and hundreds of these first show symptoms in children. In the past several years, research has rapidly progressed in identifying genes for a number of these disorders. Approximately 50 genes have been identified. Finding the defective gene that causes a disease is only a beginning towards developing a therapy, but it allows scientists to develop diagnostic tests, create animal models, learn how the gene and its protein function to promote health or disease, and pursue a reasoned strategy towards counteracting the defect. Another very exciting area of research addresses the development of the brain in early life.

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