Archive for the ‘Rare Diseases’ Category
The National Library of Medicine (NLM) has launched a Web collecting initiative to capture and preserve selected born-digital content documenting the 2014 Ebola outbreak. This initiative is a part of its previously-announced Web content collecting effort, which is guided by the NLM Collection Development Manual and other strategic collecting efforts. Initiated on October 1, 2014, selected content related to the current Ebola outbreak includes Web sites and social media from Government and non-government organizations, journalists, healthcare workers, and scientists in the United States and around the world, with an aim to collect and preserve a diversity of perspectives on this unfolding health crisis.
The content is part of the NLM’s broader Web collection on “Global Health Events.” The NLM will continue to develop, review, describe, and add content to the collection, as it also expands its overall capacity to collect Web content. With this initiative NLM has taken a major new step in its mission to collect pertinent health care information of today for the benefit of research in the future. Increasingly, that information is found on the Web, which is a rapidly changing environment where valuable and interesting materials can surface and then quickly disappear!
A new web page, Ebola Outbreak 2014: Information Resources, is now available from the National Library of Medicine (NLM) Disaster Information Management Research Center (DIMRC). The resources on this page may be of value to international and local organizations and individuals providing Ebola outbreak-related services in West Africa, as well as friends and family of people in the affected region.
This resource complements NLM’s activation of the the Emergency Access Initiative in support of medical efforts in West Africa. The Emergency Access Initiative is a collaborative partnership between the National Library of Medicine and participating publishers to provide free access to full-text articles from over 650 biomedical serial titles and over 4,000 reference books and online databases to healthcare professionals and libraries affected by disasters. The free access period is August 12, 2014 – September 11, 2014. The news story, NLM Launches Emergency Access Initiative, Granting Free Access to Books and Journals for Healthcare Professionals Fighting Ebola Outbreak, provides more detail on the NLM response to the Ebola outbreak.
The National Library of Medicine (NLM) Emergency Access Initiative (EAI) has been activated to support healthcare professionals working on the Ebola public health emergency in West Africa. The EAI is a collaborative partnership between NLM and participating publishers to provide free access to full-text from over 650 biomedical journals and over 4,000 reference books and online databases to healthcare professionals and libraries affected by disasters. It serves as a temporary collection replacement and/or supplement for libraries affected by disasters that need to continue to serve medical staff and affiliated users. It is also intended for medical personnel responding to the specified disaster. EAI is not an open access collection. It is only intended for those affected by the disaster or assisting the affected population. If you know of a library or organization involved in healthcare efforts in response to the Ebola outbreak, please let them know of this service. EAI was activated four times in the past, including following the earthquake and subsequent cholera epidemic in Haiti, flooding in Pakistan and the earthquake and tsunami in Japan.
NLM thanks the numerous participating publishers for their generous support of this initiative: American Academy of Pediatrics, American Association for the Advancement of Science, American Chemical Society, American College of Physicians, American Medical Association, American Society of Health-Systems Pharmacists, ASM Press, B.C. Decker, BMJ, EBSCOHost, Elsevier, FA Davis, Mary Ann Liebert, Massachusetts Medical Society, McGraw-Hill, Merck Publishing, Oxford University Press, People’s Medical Publishing House, Springer, University of Chicago Press, Wiley and Wolters Kluwer.
Resources on Ebola
NLM has several other resources that will be helpful for people working on Ebola:
HHS agencies, including CDC and ASPR, also provide the latest Ebola information available through social media, including Twitter@phegov, @CDCgov, @CDCEmergency and Facebook Public Health Emergency, CDC, CDC Emergency Preparedness and Response. The CDC also has a comprehensive set of resources on its Ebola Hemorrhagic Fever web page.
On April 25, 2003, the National Library of Medicine launched Genetics Home Reference (GHR), a free online resource about human genetics created for patients, families, and the general public. The Web site provides a bridge between the public’s questions about human genetics and the rich technical data that has emerged from the Human Genome Project (observing the 10th anniversary of its completion on April 25th) and other genomic research.
GHR provides consumer-friendly summaries of genetic conditions and their associated genes, gene families, and chromosomes. The site also features a primer called “Help Me Understand Genetics,” an illustrated introduction to fundamental topics in human genetics; including mutations, inheritance, genetic testing, gene therapy, and genomic research. Additionally, GHR offers helpful background information, including a glossary of genetic and medical terms and links to numerous other quality resources. A “Spotlight” feature on the GHR home page highlights important observances and discoveries in the field of human genetics, and draws attention to useful learning tools and clinical resources.
When it was launched a decade ago, Genetics Home Reference featured 19 condition summaries and 16 gene descriptions. Today, GHR offers easy-to-read summaries of about 850 genetic conditions, more than 1,060 genes, more than 80 gene families, all of the human chromosomes, and mitochondrial DNA. New summaries are added regularly. GHR currently receives about 43,000 visitors per day and 39 million hits per month, suggesting that it continues to be an important and useful health resource!
On February 28, and March 1, 2013, the National Institutes of Health (NIH) will celebrate the sixth annual Rare Disease Day with a 2-day-long celebration and recognition of the various rare diseases research activities supported by the NIH Office of Rare Diseases Research, the NIH Clinical Center, other NIH Institutes and Centers; the Food and Drug Administration’s Office of Orphan Product Development; other Federal Government agencies; the National Organization for Rare Disorders; and the Genetic Alliance.
Rare Disease Day was established to raise awareness with the public about rare diseases, the challenges encountered by those affected, the importance of research to develop diagnostics and treatments, and the impact of these diseases on patients’ lives. There are about 7000 rare diseases identified in the United States. About 80 percent of rare diseases are genetic in origin and it is estimated that about half of all rare diseases affect children. Rare diseases can be chronic, progressive, debilitating, disabling, severe and life-threatening. Information is often scarce and research is usually insufficient. People affected face challenges such as delays in obtaining a diagnosis, misdiagnosis, psychological burden, and lack of support services for the patient and family. The goals remain for rare disease patients to obtain the highest attainable standard of health, and to be provided the resources required to overcome common obstacles in their lives.
Rare Disease Day at NIH (RDD@NIH) will be held in the Natcher Auditorium (Building 45) from 8:30 a.m. to 5:00 p.m. on Thursday, February 28, and from 8:30 a.m. to 4:00 p.m. on Friday, March 1. Attendance is free and open to the public. The event will also be available via live and archived videocast on February 28 and March 1.
For more information about Rare Disease Day, please visit the event’s website. For more information about rare diseases, please visit the NIH Office of Rare Diseases Research and Genetic and Rare Diseases Information Center (GARD) websites.
MeSH uploaded the disease portion of the Online Mendelian Inheritance in Man (OMIM) database available in the Unified Medical Language System. OMIM is a database that catalogues human diseases with genetic components. Although OMIM disease names are available for searches in PubMed, it is often difficult to index and search for the articles on rare diseases with genetic components due to multiple synonyms used by different scientists that often do not overlap. As was done with NIH Office of Rare Diseases and Research (ORDR) disease terms in 2010, OMIM terms were compared to the existing MeSH descriptors and SCR records. When matches were found, OMIM thesaurus tags were added to the matched MeSH record terms. Where there were no string matches, new disease SCRs were created and mapped to descriptor(s) using the Heading Mapped to (HM) field. MeSH created 3,774 new disease SCRs, and identified and tagged 1,498 existing ORDR SCRs as rare diseases with genetic components during the OMIM load. All OMIM disease names therefore will be available starting with MeSH 2013 for indexers and searchers. The use of the HM field in the disease SCRs will lead to more consistent indexing and retrieval for rare genetic diseases.
There were 2,165 terms in 772 descriptors (MeSH headings) matching OMIM terms and therefore, tagged with the Thesaursus ID (TH)=OMIM (2013). An additional 10,286 terms in 5,453 total SCRs (6,331 terms in 3,774 new SCRs and 3,955 terms in 1,498 existing SCRs) were identified during the load. All newly created SCRs were reviewed and mapped to at least one disease descriptor.
The NLM Technical Bulletin article, What’s New for 2013 MeSH, includes additional information on the OMIM tagging. The NLM Technical Bulletin article, What’s New for 2010 MeSH®, has additional information on the 2010 ORDR term merger into the MeSH vocabulary.
S. Kalani Brady, MD, the primary care physician of the remaining Hansen’s disease (leprosy) patients at Kalaupapa, Hawaii, will speak at the National Library of Medicine in honor of St. Damien’s Day on April 13, 2012, from 3:30-5:00pm EDT in Lister Hill Auditorium (National Institutes of Health Building 38A, Lister Hill Center, first floor). Dr. Brady’s talk is titled, “Kalaupapa and Father Damien: ‘Here I am send me.'” The program will stream live via NIH VideoCasting, with an on-demand archive and file download, to any computer on any network throughout the world.
Dr. Brady is an expert on Kalaupapa’s legacy, Father Damien (beatified as St. Damien by Pope John Paul II in 1995), and contemporary care issues. Interviews with Dr. Brady, as well as a patient and caregiver at Kalaupapa, are among the highlights of NLM’s current exhibition, Native Voices: Native Peoples’ Concepts of Health and Illness, on display at NLM through fall of 2013. There is also a section about Kalaupapa’s legacy within the exhibition.
St. Damien’s Day is an annual Hawaiian statewide holiday in commemoration of the priest who pioneered housing, food distribution, and health care for Kalaupapa’s residents at the end of the 19th century. From the mid-19th to the mid-20th century, about 8,000 persons with Hansen’s disease were exiled to Kalaupapa, a remote peninsula on the Hawaiian island of Molokai. The plight of Kalaupapa’s patients in the late 19th and early 20th century was chronicled by authors Robert Louis Stevenson and Jack London.
Dr. Brady is an associate professor, John A. Burns School of Medicine, Department of Native Hawaiian Health, University of Hawaii at Manoa, and is chief of the medical staff, Kalaupapa Clinic. Dr. Brady is a fellow of the American College of Physicians and is board certified in internal medicine. He is also featured in a periodic segment that answers patient health questions on a Honolulu commercial television station and is a well-known musician in Hawaii.
On March 1, 2012, the Food and Drug Administration (FDA) will celebrate the fifth annual Rare Disease Day by hosting the “FDA Rare Disease Patient Advocacy Day” to engage and educate the rare disease community on regulatory processes related to rare diseases. This meeting is intended to enhance the awareness of the rare disease community as to FDA’s roles and responsibilities in the development of products (drugs, biological products and devices) for the diagnosis, prevention, and/or treatment of rare diseases or conditions.
This educational meeting will consist of live and interactive simultaneous webcast of presentations provided by FDA experts from various Centers and Offices, as well as from outside experts. The interactive meeting will include two general panel discussion sessions, as well as afternoon breakout sessions for more in-depth information on the roles of FDA. To view and connect to the live meeting, please visit the FDA Webcast Connect Pro Instructions webpage. The webcast will begin at 5:30am (PST) and end at 2:00pm (PST), tomorrow March 1, 2012.
The National Institutes of Health (NIH) Director, Francis S. Collins, M.D., Ph.D., unveiled the Genetic Testing Registry (GTR) today at NIH’s observance of international Rare Disease Day. This free resource, developed by the National Center for Biotechnology Information (NCBI), features a versatile search interface that allows users to search by test, condition, gene, genetic mutation, and laboratory. It also serves as a portal to other medical genetics information, with context-specific links to practice guidelines and a variety of genetic, scientific, and literature resources available through the National Library of Medicine. Video tutorials on how to use the GTR are available on YouTube. The GTR staff welcomes comments and questions as users become familiar with the Registry. To submit input, please use the online Feedback Form for the Genetic Testing Registry.
Genetic tests currently exist for about 2,500 diseases, and the field continues to grow at a fast pace. To keep up with the constantly changing field, GTR will be updated frequently, using data voluntarily submitted by genetic test providers. In addition to basic facts, GTR will offer detailed information on analytic validity, which assesses how accurately and reliably the test measures the genetic target; clinical validity, which assesses how consistently and accurately the test detects or predicts the outcome of interest; and information relating to the test’s clinical utility, or how likely the test is to improve patient outcomes.
GTR is built upon data from the laboratory directory of GeneTests, another NIH-funded resource that will be phased out over the coming year. GTR is designed to contain more detailed information than its predecessor, as well as to encompass a much broader range of testing approaches, such as complex tests for genetic variations associated with common diseases and with differing responses to drugs. GeneReviews, which is the section of GeneTests that contains peer-reviewed, clinical descriptions of more than 500 conditions, is also now available through GTR. For more information about this new online tool, please refer to the NIH Press Release.