The NIH Opens Genetic and Rare Diseases Information Center

Thanks to a new project from the National Institutes of Health's Office of Rare Diseases and National Human Genome Research Institute, called the Genetic and Rare Diseases Information Center, patients and their families now have free and immediate access to specialists who can give them current, accurate information about genetic and rare diseases. The center, however, does not provide genetic counseling, diagnostic testing, referrals, medical treatment, or advice.

Calls by phone (888-205-2311) and TTY text telephone (888-205-3223) are answered Monday through Friday, from noon to 6 p.m. Eastern time. Inquiries also can be submitted via email (gardinfo@nih.gov), fax (202-966-5689), or U.S. mail (The Genetic and Rare Disease Information Center, P.O. Box 8126, Gaithersburg, MD 20898-8126). Depending on the information requested, a written response will arrive in 5 to 10 business days.

Spotlight on Our Web Site

Many participants at our third annual PIO meeting asked for suggestions on where they can get information to use in their organizations' newsletters, names of researchers in their local communities who are studying certain diseases, and materials that will help them explain what clinical trials are and how they work.

If you need ideas for articles for your organizations' newsletters, the NHLBI Web site is a wealth of information. Much of it is in a "ready to use" format. From our Home page, you can access News and Press Releases, browse our Special Web Pages and Interactive Applications, and, with the click of a button, find out what's new on the NHLBI Web site. None of our materials, including articles that you read in the FYI from the NHLBI, has copyright restrictions. Feel free to use whatever is of interest to your readers.

The fine print: We do, however, request that you cite the NHLBI (as part of the National Institutes of Health), as the source and provide the full title of the document from which it came in your own publication. Further, if implications or conclusions are drawn that are not in the original NHLBI document, this fact should be clearly stated in your publication. Also please note that the material should not be used to promote or endorse any product or company, either directly or indirectly.

If you're wondering how to find researchers at your local universities who are studying a subject you're interested in, use CRISP (Computer Retrieval of Information on Scientific Projects), a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other research institutions. From www-commons.cit.nih.gov/crisp, click on "Go to CRISP Query Form," enter your "search terms" (e.g., sarcoidosis) and select a state (e.g., Pennsylvania), submit your query, and receive names of researchers, their institutions, and brief descriptions of their research projects.

If you want general information about clinical trials that you could provide to your members, remember that Clinicaltrials.gov is more than just a listing of NIH-sponsored clinical studies. It links to resources including

• "What Is A Clinical Trial?"
• "Taking Part In Research Studies: What Questions Should You Ask."
• "Clinical Trials of Medical Treatments: Why Volunteer?"
• "Understanding Clinical Trials From The Patient's Perspective."

New NHLBI Research Initiatives

From time to time, the NHLBI invites investigators to submit grant applications or contract proposals for specific research programs. We are currently soliciting applications for the programs described below. For a full details of these and other research initiatives, visit http://www.nhlbi.nih.gov/funding/inits/index.htm or the Web page that are linked each initiative number.

Animal Models of Organ-specific Tolerance for Heart and Lung Transplantation

• Initiative Number: PA-02-044
• Applications are accepted for February 1, June 1, and October 1 deadlines each year.
• Objectives: To encourage development of organ-specific tolerance protocols using large animal models for heart transplantation and both large and small animal models for lung transplantation.

Cellular and Molecular Mechanisms of Primary Pulmonary Hypertension

• Initiative Number: PA-00-043
• Applications are accepted for February 1, June 1, and October 1 deadlines each year.
• Objectives: To promote research to elucidate cellular and molecular mechanisms involved in the unique vascular remodeling that characterizes PPH and in the regulation of vascular tone during its development.

Functional Tissue Engineering for Heart, Vascular, Lung, Blood, and Sleep Disorders and Diseases

• Initiative Number: PAR-01-006
• Phase II applications are accepted for the following deadlines: March 13, 2003 and March 12, 2004.
• Objectives: To stimulate engineering of biological substitutes for damaged tissues and organs and to promote the development of novel tissue regeneration and remodeling approaches.

Mechanisms of Fetal Hemoglobin Gene Silencing for Treatment of Sickle Cell Disease and Cooley's Anemia

• Initiative Number: RFA-HL-02-015
• Applications are due July 12, 2002.
• Objectives: To characterize mechanisms involved in fetal hemoglobin (gamma-globin) gene silencing during normal human development and to develop approaches capable of inhibiting gene silencing.

Molecular Mechanisms of Mucous Cell Metaplasia and Excess Mucous Secretion in Human Airway Diseases

• Initiative Number: RFA-HL-02-011
• Applications are due June 14, 2002.
• Objectives: To encourage characterization of molecular pathways involved in mucin secretion and mucous cell metaplasia to determine contributions of specific pathways in chronic airway inflammation and identify potential therapeutic targets.

Molecular Targets and Interventions in Pulmonary Fibrosis

• Initiative Number: RFA-HL-02-020
• Applications are due September 20, 2002./LI>
• Objectives: To support the development of new therapeutic approaches for pulmonary fibrosis.

Pathogenesis and Treatment of Lymphedema

• Initiative Number: PA-01-035
• Applications are accepted for February 1, June 1, and October 1 deadlines each year.
• Objectives: To stimulate research on the biology of the lymphatic system, to characterize the pathophysiologic mechanisms that cause lymphedema, and to discover new therapeutic interventions.

Pathophysiologic Mechanisms of Obesity-Associated Cardiovascular Disease

• Initiative Number: RFA-HL-02-016
• Applications are due June 19, 2002.
• Objectives: To clarify the biological basis of various obesity-related cardiovascular diseases through basic and clinical mechanistic studies.

Pathophysiology and Treatment of Chronic Fatigue Syndrome (CFS)

• Initiative Number: PA-02-034
• Applications are accepted for February 1, June 1, and October 1 deadlines each year.
• Objectives: To provide a better understanding of CFS pathogenesis and pathophysiology with the goal of improving diagnostic and intervention strategies.

Physical Activity and Obesity Across Chronic Diseases

• Initiative Number: PA-01-017
• Applications are accepted for February 1, June 1, and October 1 deadlines each year.
• Objectives: To examine relationships between physical activity and obesity, to improve methodology of assessment of physical activity and energy balance, and to test intervention approaches that incorporate physical activity for obesity prevention or treatment related to chronic diseases.

Research on Stem Cell Biology and Cell-Based Therapies for Heart, Lung, Blood, and Sleep Disorders

• Initiative Number: RFA-HL-02-019
• Applications are due September 20, 2002.
• Objectives: To provide the scientific basis needed to accelerate research efforts leading to the use of cellular therapies for regenerative and reparative medicine.

Specialized Centers of Clinically Oriented Research (SCCOR) in Translational Research in Acute Lung Injury

• Initiative Number: RFA-HL-02-014
• Applications are due June 11, 2002.
• Objectives: To foster multidisciplinary basic and clinical research on clinically relevant questions related to acute lung injury and adult respiratory distress syndrome.

Specialized Centers of Research (SCOR) in Neurobiology of Sleep and Sleep Apnea and Airway Biology and Pathogenesis of Cystic Fibrosis

• Initiative Number: RFA-HL-02-013
• Applications are due June 11, 2002.
• Objectives: To foster multidisciplinary basic and clinical research on clinically relevant questions related to the neurobiology of sleep and sleep apnea and the airway biology and pathogenesis of cystic fibrosis.

Specialized Centers of Clinically Oriented Research (SCCOR) in Pediatric Heart Development and Disease

• Initiative Number: RFA-HL-02-027
• Applications are due January 16, 2003.
• Objectives: To stimulate research that will aid in the prevention, diagnosis, and treatment of congenital cardiovascular malformations, pediatric arrhythmias, conduction disturbances, disorders of myocardial function, and acquired pediatric cardiac diseases.

Need More Information?

For health related questions and publications, please contact the trained information specialists at the NHLBI Information Center.