8th Annual Rare Disease Day February 28 (Information and Related Resources)

From Rare Disease Day at NIH
On February 27, 2015, the National Institutes of Health (NIH) will celebrate the eighth annual Rare Disease Day with a day-long celebration and recognition of the various rare diseases research activities supported by NCATS’ Office of Rare Diseases Research, the NIH Clinical Center, other NIH Institutes and Centers….
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.

The National Organization for Rare Disorders (NORD), a leading independent, non-profit organization committed to the identification, treatment, and cure of rare disorders, serves as the sponsor of Rare Disease Day in the United States.  For more information, visit http://rarediseaseday.us/, by the  nonprofit National Organization for Rare Disorders (NORD).

Resources
nord

 

 

 

 

 

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Researchers unravel health/disease map [Press release]

From the 18 February 2015 Simon Fraser University press release

Researchers affiliated with SFU help unravel a massive roadmap to understanding the human epigenome, chemical modifications that determine our health

 

Researchers affiliated with several organizations, including Simon Fraser University, have realized a major scientific achievement that will advance understanding of how the information in our cells is used and processed.

Steven Jones and Marco Marra, SFU Department of Molecular Biology and Biochemistry professor and adjunct professor, respectively, were among dozens of scientists on the pioneering project. Both SFU alumni, they are also with the Canada’s Michael Smith Genome Sciences Centre and BC Cancer Agency.

The scientists are globally celebrating their completion of 20 manuscripts that describe their generation and analysis of reference epigenome maps.

Epigenomes are chemical modifications of DNA and proteins that control the structure and activity of our genome. Ultimately, they cause our genome to stay healthy or develop diseases because they code for cellular properties that distinguish one cell type from another.

 

epigenome

The journal Nature has issued a special publication to showcase the researchers’ collection, which contains molecular mark-up language for translating the epigenomes of 111 distinct human cell and tissue types.

“The DNA that makes up a human genome is essentially the same in every cell,” explains Jones, a co-author on the manuscript that integrates all 111 epigenomes into a single comparative analysis.

The project, called the National Institutes of Health (NIH) Roadmap Epigenomics Mapping Consortium, provides a core set of data, methodology and infrastructure for studying the epigenome’s role in human health and disease. The original goal was to map 25 normal reference epigenomes, but new technology allowed the team to produce 111 highly detailed maps on how the epigenome varies and operates in different settings.

“But different parts of our DNA are active in different types of tissue,” Jones adds. Liver and brain cells use different pieces of DNA to produce different repertoires of proteins depending on how epigenetic markers are set in each cell during embryonic development. The setting can change later in life in response to environmental cues. In fact, changes to a cell’s original epigenetic patterns have been implicated in several human diseases, including cancer and Alzheimer’s disease.”

Thanks to their several years of work, the researchers have dramatically improved the world’s ability to decipher how the book of the human genome unravels in our individual lives.

“Our work greatly expands the number of cell types for which we now have epigenomic maps, and consequently the disease states which we can now compare to normal references in those cells. We’ve also increased understanding of the range of different developmental stages of individual cell types,” explains Jones.

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Social Science Index – A good tool for the health sciences [Resource of the Week]

The Social Science Citation Index (help guide here) is an international multidisciplinary index to the literature of the social, behavioral and related sciences.

Here is a sampling of health related searches:
(The search phrase is in the upper left corners)

Other Social Science tools include

  • Academic Search Complete
    Covers scholarly publications in all areas of study.
  • CANE (Clearinghouse on Abuse and Neglect of the Elderly (CANE))
    CANE indexes peer-reviewed journal articles, books, agency reports, transcripts of hearings, news articles, videos, memoranda of understanding (MOU), and online resources addressing the abuse and neglect, self-neglect, and financial exploitation of elders.
  • Education Research Complete
    Topics include educational specialties, policy, and research.
  • ERIC
    Comprehensive index to a variety of literature and resources in education.
  • GenderWatch
    Covers all areas concerning gender studies.
  • LGBT Life with Full Text
    Index to worldwide literature on gay, lesbian, bisexual, and transgender issues.
  • PsycINFO
    Covers the scholarly literature in the psychological, social, behavioral, and health sciences.
  • Sociology Collection
    Topics covered include social behavior, human tendencies, interaction, relationships, community development, culture and social structure.

Links to some related statistics may be found here.

 

 

 

 

 

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Good news: NIH Discovers Data Scientists and The Private Sector [[Reblog]

From the 17 February 2015 post by David Shaywitz, MD at The Health Care Blog

Late last month, President Obama unveiled a $215 million Precision Medicine initiative, which has won early bipartisan support. The centerpiece of this proposal is an ambitious effort to integrate disparate clinical datasets to advance science and improve health.  The question now is whether the National Institute of Health officials entrusted to carry out this program will seize this opportunity to leverage the thinking and experiences of the entrepreneurs, engineers, and data scientists from the private sector who have been wrestling these sorts of challenges to the ground.  The early indications are encouraging.

(Disclosure/reminder: I work at a cloud-enabled genomic data management company in Mountain View, California.)

The article summarizes how NIH is changing its basic philosophy of framing large projects as research problems to be solved by academia. For example, digital health entrepreneurs now on the staff of the Office of Science and Technology Policy.

Related articles

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Evidence-Based Research Network formed to promote waste reduction in research

ebm

 

From the Network’s About page

A number of studies show that researchers, research funders, regulators, sponsors and publishers of research fail to use earlier research when preparing to start, fund, regulate, sponsor or publish the results of new studies. To embark on research without systematically reviewing the evidence of what is already known, particularly when the research involves people or animals, is unethical, unscientific, and wasteful.

To address this problem a group of Norwegian and Danish researchers initiated an international network, the ‘Evidence-Based Research Network’. The EBRNetwork was established in Bergen, Norway in December 2014 with initial partners from Australia, Canada, Denmark, the Netherlands, Norway, the UK, and USA.

The aim of the EBRNetwork is to reduce waste in research by promoting:

   No new studies without prior systematic review of
existing
evidence
Efficient production, updating and dissemination of
systematic reviews

The Website now includes news items, links to events,  and a newsletter (via email).
The first press release (18 Feburary, 2015) issued “a call for interested individuals and organizations to join the EBRNetwork and work together in developing a consensus statement to address this challenge to the very heart and values of research.”To become a member of the EBRNetwork please contact info@ebrnetwork.org ; http://ebrnetwork.org
Follow on Twitter @EBRNetwork

For further information:
[Hans Lund, Professor, +45 257 211 25, hans.lund@ebrnetwork.org]

 

Mulford Marketing Library Shoot

 

Remember, Mulford Librarians are happy to consult with you and perform literature searches, including systematically reviewing the literature for research on the topic(s) needed. We may be contacted here through various formats and devices. Let us save you time and alleviate frustration!

 

 

 

 

 

 

 

 

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First major analysis of Human Protein Atlas published, could explain many drug side effects [Research summary]

From the 23 January 2015 KTH article

A research article published today in Science presents the first major analysis based on the Human Protein Atlas, including a detailed picture of the proteins that are linked to cancer, the number of proteins present in the bloodstream, and the targets for all approved drugs on the market.

The Human Protein Atlas, a major multinational research project supported by the Knut and Alice Wallenberg Foundation, recently launched (November 6, 2014) an open source tissue-based interactive map of the human protein. Based on 13 million annotated images, the database maps the distribution of proteins in all major tissues and organs in the human body, showing both proteins restricted to certain tissues, such as the brain, heart, or liver, and those present in all. As an open access resource, it is expected to help drive the development of new diagnostics and drugs, but also to provide basic insights in normal human biology.

The analysis shows that almost half of the protein-coding genes are expressed in a ubiquitous manner and thus found in all analysed tissues.

The analysis suggests that approximately 3,000 proteins are secreted from the cells and an additional 5,500 proteins are located to the membrane systems of the cells.

“This is important information for the pharmaceutical industry. We show that 70% of the current targets for approved pharmaceutical drugs are either secreted or membrane-bound proteins,” Uhlén says. “Interestingly, 30% of these protein targets are found in all analysed tissues and organs. This could help explain some side effects of drugs and thus might have consequences for future drug development.”

The analysis also contains a study of the metabolic reactions occurring in different parts of the human body. The most specialised organ is the liver with a large number of chemical reactions not found in other parts of the human body.
…..

The study has been carried out by researchers in Sweden at KTH Royal Institute of Technology, Uppsala University, Karolinska Institute, Chalmers University of Technology, Lund University, and Stockholm University.

DOI: 10.1126/science.1260419

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Study Skills and Aids for Health Science Students and Others

It is never too early to review and study for those tests and exams weeks away! Think of these tools as guides not only for tests, but lifelong learning.

mont

This  British Based educational company includes free study kits including exam preparation and study skills. From time management to organizational tips to choosing the right preparation strategies, and more. Information is broken down into manageable chunks with relevant exercises.

studyNursing

How to study and write for nursing (and allied health) (from HowToStudy.org) includes an assignment calculator, tips from nursing students, how to read a textbook, and more.

studyskills

 

Study Skills (Univ of South Carolina Medical Library) includes a variety of related topics as concept mapping in medical school and resources to enhance learning. Section with links on note taking.

 

Don’t forget UT Library Guides, including

Looking for more assistance? Please do not hesitate to contact the Academic Enrichment Center on the 5th floor of the Mulford Library. It is a separate department from the library which “support services for students on the Health Science Campus by facilitating student engagement and collaboration, fostering self directed learning, and providing resources which contribute to student  academic success.”

Also, do not forget to contact a Mulford Reference librarian with your information and research needs. We are here to save you time and alleviate frustration!

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Scientists develop comparative search engine that helps to predict human gene function [Standord press release]

Researchers have developed and disseminated a search engine that helps identify human gene function by comparing human genes to genes from nonhuman species.hop

 

 

From the 12 February 2015 Stanford Medicine press release

The Human Genome Project wrapped up over a decade ago, yet around a third of the genome remains mysterious, its function unknown. Now, School of Medicine researchers have developed a comparative search engine that uses evolutionary correlations between humans and other species’ genes to help identify human gene function.

“After the human genome was sequenced, scientists thought it would be a very short time before we knew what all the genes are doing,” said Tobias Meyer, PhD, professor and chair of chemical and systems biology. “It turned out not to be so easy, and we are currently in a holding pattern before we can really make use of all the genomic information.”

Mapping how the human genome functions is like a completing a giant jigsaw puzzle. Such a map has been called the “interactome,” and having some idea about what a gene does helps identify where that gene fits in the puzzle.

“Identifying gene function is important for medicine because how genes interact with each other affects disease,” said graduate student Gautam Dey.

The search engine relies on “big data,” drawing from an international database that contains genomic sequences of hundreds of species, and is accessible via a Web page that is free and available to the public. The Web page went live Feb. 12, the same day that the paper describing the researchers’ method for gene-function mapping was published online in Cell Reports. Dey is the lead author of the paper, and Meyer is the senior author.

The search engine is at http://web.stanford.edu/group/meyerlab/hOPMAPServer/index.html.

refqRefSeq is a freely available ” comprehensive, integrated, non-redundant, well-annotated set of reference sequences including genomic, transcript, and proteins.”

To generate the phylogenetic profiles, the search engine queries RefSeq, an online database of human and other species’ genomic sequences maintained by National Center for Biotechnology Information.

Read the entire article here

 

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Improved Serials (as Journal Titles) Searching in the NLM Catalog

National Library of Medicine Technical BulletinNational Library of Medicine Technical Bulletin

Improved Serials Searching in the NLM Catalog

Boehr D. Improved Serials Searching in the NLM Catalog. NLM Tech Bull. 2015 Jan-Feb;(402):e4.

2015 January 27 [posted]

On January 9, 2015 NLM unique identifiers (UIs) were added to linking fields (e.g. earlier title/later title, absorbed by, split from/split into, supersedes, etc.) in most serial records where NLM has a bibliographic record for the related title.

Over 19,000 records were able to be linked in this manner. This will allow the NLM Catalog to provide direct links between related titles, rather than the current linking search strategy which does a keyword search for words in the title. Search strategies in the NLM Catalog are being updated to take advantage of these direct hotlinks and should be usable in about a month.

NLM Catalog

Users will soon be able to click on the title in the “Continues” field and be taken directly to that title (see Figure 1).

Select the title in the Continues field of the NLM Catalog.
Figure 1: Select the title in the “Continues” field of the NLM Catalog.

LocatorPlus

While the UIs are not linked directly in LocatorPlus, they are expected to provide direct linking in any new discovery and delivery product that replaces LocatorPlus. LocatorPlus users can use the new data to find related titles. Users should go to the MARC View of a particular serial record with a linking note and look for the $w with a (DNLM) prefix in any MARC 76X, 77X, or 78X field to find the NLM UI for the linking record. Searching that UI as a keyword search will directly retrieve the related title.

Summary View
LocatorPlus users will see the same “Continues” note, but to find the record for that title, they must click on the MARC View tab (see Figure 2).

Select the MARC View tab to find the NLM UI to search for the related title in LocatorPlus.
Figure 2: Select the MARC View tab to find the NLM UI to search for the related title in LocatorPlus.

MARC View
Once in the MARC view, scroll down to the 780 field. The desired linking title can be found along with the NLM UI in the last $w field (see Figure 3).

Scroll down to the 780 field in the MARC View.
Figure 3: Scroll down to the 780 field in the MARC View.

Search
Entering the UI “9105716” in the LocatorPlus search box as a “Keyword Anywhere” search will retrieve the earlier title (see Figure 4).

Enter the NLM UI in the LocatorPlus search box.
Figure 4: Enter the NLM UI in the LocatorPlus search box.

By Diane Boehr
Cataloging and Metadata Management Section

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ABIM announces immediate changes to MOC program [Reblog, Editorial]

Disclaimer: The views in this article do not reflect official positions of any UT department or college. This article is reblogged for informational purposes only.

From the 2 February 2015 post at KevinMD.com

Dear Internal Medicine Community:

ABIM clearly got it wrong. We launched programs that weren’t ready and we didn’t deliver an MOC program that physicians found meaningful. We want to change that.

Nearly 80 years ago, the American Medical Association and the American College of Physicians founded the American Board of Internal Medicine (ABIM). ABIM was charged with distinguishing the discipline of internal medicine from other forms of practice by creating uniform standards for internists. Those standards have evolved over the years, reflecting the dynamic nature of internal medicine and its more than 20 subspecialties.

A year ago, ABIM changed its once-every-10-years Maintenance of Certification (MOC) program to a more continuous one. This change generated legitimate criticism among internists and medical specialty societies. Some believe ABIM has turned a deaf ear to practicing physicians and has not adequately developed a relevant, meaningful program for them as they strive to keep up to date in their fields.

ABIM is listening and wants to be responsive to your concerns. While ABIM’s Board believes that a more-continuous certification helps all of us keep up with the rapidly changing nature of modern medical practice, it is clear that parts of the new program are not meeting the needs of physicians like yourself.

We got it wrong and sincerely apologize. We are sorry.

As a result, ABIM is taking the following steps:

  • Effective immediately, ABIM is suspending the Practice Assessment, Patient Voice and Patient Safety requirements for at least two years. This means that no internist will have his or her certification status changed for not having completed activities in these areas for at least the next two years. Diplomates who are currently not certified but who have satisfied all requirements for Maintenance of Certification except for the Practice Assessment requirement will be issued a new certificate this year.
  • Within the next six months, ABIM will change the language used to publicly report a diplomate’s MOC status on its website from “meeting MOC requirements” to “participating in MOC.”
  • ABIM is updating the Internal Medicine MOC exam. The update will focus on making the exam more reflective of what physicians in practice are doing, with any changes to be incorporated beginning fall 2015, with more subspecialties to follow.
  • MOC enrollment fees will remain at or below the 2014 levels through at least 2017.
  • By the end of 2015, ABIM will assure new and more flexible ways for internists to demonstrate self-assessment of medical knowledge by recognizing most forms of ACCME-approved Continuing Medical Education.

Please visit our FAQ page for more information about these changes. I do want you to know that, since the changes being made are significant, it will take time until your individual status page is updated on the ABIM website.

ABIM is changing the way it does its work so that it is guided by, and integrated fully with, the medical community that created it. However, I know that actions will speak louder than words.

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