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Report on the Rare Diseases and Conditions Research Activities of the National Institutes of Health 1999

National Institute of Nursing Research (NINR)

Overview of NINR Rare Diseases Research Activities

NINR supports and conducts research, research training, and career development on the biomedical and behavioral processes that underlie health and manage illness. NINR's Rare Diseases Research portfolio describes and develops strategies to control, manage, and prevent biobehavioral complications of such problems.


Autistic children and their families must cope with a chronic condition that is characterized by severe communication impediments, social deficits, and aberrant behaviors. Interventions are needed to teach family members methods for promoting social interactions in these children. NINR is funding a research study targeting fathers of autistic children. The objectives of the study are to compare and contrast fathers' and mothers' interactions with the child and to evaluate an in-home training program for fathers. The intervention will assess communication skills and acquisition of skills with the goal to improve dialogue.

Acute Respiratory Distress Syndrome

NINR researchers are studying a paced-induced model of chronic heart failure in patients with acute respiratory distress syndrome. This model reflects the changes associated with excessive sympathetic activation, vagal afferent activity, baroreceptor reflex control of parasympathetic activity, and the systemic vascular resistance changes required to measure changes in neurohormones, autonomic nervous system tone, and afterload. Weaning from mechanical ventilation to spontaneous ventilation will be tested in this model. NINR-funded investigators anticipate that the conclusions of this study will provide insight into methods of optimizing cardiovascular and respiratory function in critically ill patients and the selection of an appropriate model of spontaneous ventilation.


Fibromyalgia is a disease characterized by the symptoms of chronic muscle pain, poor sleep, and fatigue. The pathophysiology of fibromyalgia is unknown, but a CNS disturbance is likely. NINR-funded researchers are studying possible links to hormonal disturbances to form a basis for possible treatment strategies such as sleep therapies, hormone augmentation, and stress reduction to manage the symptoms of fibromyalgia. Initial findings indicate that, when compared with inactive healthy women of the same age, women with fibromyalgia spent more time awake, especially during the first half of the night. This sleep disturbance was accompanied by nighttime low blood serum levels of growth hormone and prolactin. These reduced amounts of growth hormone and prolactin are thought to produce other symptoms of fibromyalgia such as muscle pain, fatigue, bowel discomfort, and impaired thinking.

Irritable Bowel Syndrome

In a study comparing the circadian patterns of vagal tone in women with and without irritable bowel syndrome (IBS), researchers found that women with IBS demonstrated significantly lower vagal tone as measured by high-frequency spectral analysis compared with women without IBS. Researchers also found that women with IBS had a flattened 24-hour pattern of heart rate variability, with significantly lower levels of vagal tone during sleep. Findings suggest that systemic sympathetic/vagal balance may be shifted in women with IBS during the sleep interval. In addition, these NINR researchers are studying the effects of IBS-like symptoms in AIDS patients on highly active antiretroviral therapy (HAART).


Narcolepsy is characterized by a sudden uncontrollable disposition to sleep, occurring at irregular intervals, with or without predisposing cause. Many of the consequences of narcolepsy can be directly attributed to sleep attacks and excessive daytime sleepiness. Uncontrollable episodes of daytime sleep make driving difficult or hazardous, affect the individual's ability to continue an education and pursue a career, and often interfere with interpersonal relationships. The identification of patients who are less likely to respond to stimulant medications will allow clinicians to concentrate on improving treatment regimens for these patients. The goal of the NINR-funded research is to identify an instrument that is reliable, sensitive to treatment effects, and easy to administer to assess patients' responses to treatment. The aims of the research are to develop profiles of patients who respond to stimulant medications and those who do not and to evaluate two questionnaires to assess treatment efficacy in a clinical setting.

Cystic Fibrosis

Advances in biomedical sciences and technology have made longer lifespans possible for children with CF. This new generation of adolescents and young adults with CF presents new management challenges for health-care providers. NINR researchers are testing the effectiveness of an intervention to improve the quality of life of children with CF (8-12 year old) by teaching them life skills for managing the psychosocial demands of this chronic illness.

Recent Scientific Advances in Rare Diseases Research

NINR received ORD support to conduct two rare diseases workshops. The projects were entitled "Care of Patients with Heritable Diseases" and "Emerging Infections: Prevention Through Behavior Change."

Care of Patients With Heritable Diseases

The purpose of this workshop was to plan a summer training institute for nurses to be held June 4-July 28, 2000. The workshop was held March 15-16, 1999. The planning meeting accomplished the following goals: described research opportunities, defined clinical practice guidelines, and identified educational and research training opportunities for nurse clinicians to assist patients manage symptoms of their genetic diseases. NHGRI and NCI collaborated with NINR in the development of this workshop. The workshop concluded with two major recommendations:

  1. Identify risk factors for the development of rare disorders affecting people diagnosed with a genetic disorder with multifactorial inheritance.
  2. Focus on behavioral intervention methods and their effectiveness in coping with lifestyle changes and enhancing quality of life for people diagnosed with a genetic disorder with multifactorial inheritance.

Emerging Infections: Prevention Through Behavior Change

The purpose of the meeting, held June 3-4, 1999, was to identify research gaps and opportunities to inform the research agenda of the NINR in the area of emerging infections. Scientists and clinicians from various backgrounds attended, with expertise related to infection control, health education, and behavior change. NINR collaborated with NIAID in the development of the workshop, and a publication was an outgrowth of this meeting. Highlighted topics of the workshop included cultural variables that influence personal hygiene and health-care practices, community-based efforts to promote safe food handling, health education programs targeting immunization programs, and infection control practices in health-care institutions.

Rare Diseases-Related Program Activities

NINR participated in a Rare Diseases Research initiative in FY 2000. This workshop, Increasing Nursing Postdoctoral Opportunities in Rare Diseases, was held May 1-2, 2000. The purpose of the workshop was to discuss how to increase the pool of scientists into areas of rare diseases research. Scientists and clinicians in fields such as bioengineering, pharmacology, nursing, medicine, and genetics participated. The workshop concluded with a plan of action to develop a cadre of scientists from PhD programs who will be able to develop programs of research in areas such as HIV, cystic fibrosis, end-stage renal failure, juvenile diabetes, hereditary hypercholesterolemia, and syndrome X. Colleagues from the Office of the Director and the NHGRI participated in the meeting. A manuscript is expected as a result of the workshop.

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Last Reviewed: January 27, 2005
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