Researchers have begun screening the first definitive collection of thousands of approved drugs for clinical use against rare and neglected diseases. They are hunting for additional uses of the drugs hoping to find off-label therapies, for some of the 6,000 rare diseases that afflict 25 million Americans. The effort is coordinated by the National Institutes of Health’s Chemical Genomics Center (NCGC).
“This is a critical step to explore the full potential of these drugs for new applications,” said NIH Director Francis S. Collins, M.D., Ph.D. “The hope is that this process may identify some potential new treatments for rare and neglected diseases.”
The researchers assembled the collection of approved drugs for screening based on information from the NCGC Pharmaceutical Collection browser at http://tripod.nih.gov/npc. This publicly available, Web-based application described in a paper appearing in the April 27 issue of Science Translational Medicine, provides complete information on the nearly 27,000 active pharmaceutical ingredients including 2,750 small molecule drugs that have been approved by regulatory agencies from the United States, Canada, Europe and Japan, as well as all compounds that have been registered for human clinical trials……
Related Rare Diseases Resources
- National Organization for Rare Disorders
- Genetic and Rare Diseases Information Center(Office of Rare Diseases, National Human Genome Research Institute)
- Office of Rare Diseases
- Rare Diseases Clinical Research Network(Office of Rare Diseases, National Center for Research Resources)
- Rare Diseases (MedlinePlus)
- Push to spur more drugs for deadly rare diseases (seattletimes.nwsource.com)
- U.S. Rolls the Dice on Pharmaceutical Drug Innovation (livescience.com)
- Guidelines on rare diseases: Methods on handling evidence neither identified nor required
Manuals and methods papers provide only isolated references; different requirements than those for more common diseases do not seem meaningful
This February 28 2011 report is published by the Pew Research Center, a “nonpartisan “fact tank” that provides information on the issues, attitudes and trends shaping America and the world. It does so by conducting public opinion polling and social science research; by analyzing news coverage; and by holding forums and briefings. It does not take positions on policy issues.” [From the Pew Research Center About Page]
Some excerpts from the report
- Many Americans turn to friends and family for support and advice when they have a health problem. This report shows how people’s
networks are expanding to include online peers, particularly in the crucible of rare disease. Health professionals remain the central
source of information for mostAmericans, but “peer‐to‐peer healthcare” is a significant supplement.
- One in five internet users have gone online to find others like them.Eighteen percent of internet users say they have gone online
to find others who might have health concerns similar to theirs.
- In the moment of need, most people turn to a health professional for information, care, or support. When asked about the last time they had a health issue, 70% of adults in the U.S. say they receivedinformation, care, or support
from a health professional.
Researchers looking at a rare disease make breakthrough that could benefit everyone
Geneticists unveil workings of 3 genes that control cell development and growth
MONTREAL, March 1, 2011 – By working with Canadians of French ancestry who suffer a rare genetic disease, researchers have discovered how three genes contribute to abnormal growth, making a breakthrough that will improve our understanding of many disorders such as foetal and childhood growth retardation, abnormal development of body parts and cancer. “As a result of the Human Genome Project, we know the basic identity of essentially all the genes in the human body, but we don’t automatically know what they do in detail,” explained lead researcher Dr. Mark Samuels of the University of Montreal’s Department of Medicine and the Sainte-Justine University Hospital Research Centre. “It’s like opening your car and seeing the parts, but not knowing what each one does. When a part breaks however, you learn how it fits with the rest of the machine. Working with people who have specific health or development problems linked to specific genes enables us to see how those genes contribute to our bodies’ development and functioning.”
In this case, the team of researchers characterized the molecular basis in patients who suffer from Meier-Gorlin Syndrome (MGS), a rare disorder that is characterized by short stature, small ears, and absent or underdeveloped knee-caps. The patients were mostly francophonic, coming from the Maritimes, Quebec, British Columbia as well as the Louisiana Cajun community. MGS is a classic “single gene disorder,” meaning it is related to mutations in individual genes, although in the case of MGS different patients surprisingly seem to carry mutations in any of three different genes.
The genes are called ORC1L, ORC4L and CDT1, and are known to play a critical role in correct copying of DNA. Cells reproduce by dividing in two. All the chromosomes must also be duplicated. This process is tightly controlled to prevent having too many or two few copies of large segments of the genome. “This seems to be the first example of any naturally occurring, inherited mutations identified in this set of important regulatory genes in any mammal. Finding the genes is a great example of the value of this type of research,” Samuels said. “We learn the cause of the disease, and discover new things about our cellular function. However we still have a lot to learn about why mutations in these genes lead to the specific consequences in Meier-Gorlin patients.”
There are 20-25,000 genes in the human genetic sequence, and it’s important to note that they don’t necessarily each correspond to a specific function or group of functions, or indeed to a single disease. The same gene can have subtle effects on a number of bodily functions. Moreover, in complex genetic diseases – diabetes, for example – environment and lifestyle have as much or more of an impact on health than a person’s genetic background.
“Understanding rare genetic conditions like MGS is important to the general public for two reasons,” Samuels stressed. “Firstly, they provide insight into how our genes, and therefore our bodies, work. Secondly, although there are few people concerned for each particular disorder, in sum all patients with genetic conditions consume substantial amounts of health resources, and by diagnosing them more quickly, we can improve patient management and reduce the strain on the health care system.” Research suggests that up to 70% of admissions to paediatric hospitals may be related to some kind of genetic disorder. “It’s also important to note that behind the science and the statistics, there are real people suffering. It’s an immense relief for patients and their families to finally have a clear diagnosis,” Samuels added.
In an unusual coincidence, a competing team of researchers obtained similar findings on Meier-Gorlin Syndrome in a different set of patients. These findings were published in the same issue of Nature Genetics. Samuels notes, “Neither team can claim absolute priority in the discovery. However this is the way science works best: when important results are quickly verified by multiple teams independently.”
- The Promise and Payoff of Rare Diseases Research, From NIH Director Dr. Francis S. Collins (NIH MedlinePlus Magazine, May 2011)
- The NIH Undiagnosed Diseases Program (NIH MedlinePlus Magazine May 2011)
- NIH researchers create comprehensive collection of approved drugs to identify new therapies (jflahiff.wordpress.com)
“Summaries for Patients” and other plain language summaries help patients and others understand medical studies and guidelines
Heard or read about research on a medical topic but not sure if the news is reliable? Looking for trusted information on a treatment or drug carefully reviewed by experts? Do scientific articles seem to contain good information, but they are hard to understand?
Not sure where to go next? You are not alone.
These plain language summaries are great places to start for medical and health information that has been rewritten for those of us who are not scientists or health care professionals. Much of the information is free, and often there are great links to reliable Web pages for additional information.
- Summaries for Patients are short plain language summaries of medical research and guides for doctors.
- Discover how researchers did the published study and what they found, including
- What the problem was and why it is studied
- Who was studied and why the study was done
- What the scientists found and what the limits of the study were
- Find overviews about clinical guidelines -official recommendations for doctors in treating patientsTo locate a specific summary
- Go to Patient Information
- Follow the directions under the Summaries for Patients heading
- patientINFORM plain language summary Web sites are provided only by participating science and medicine publishers.
These summaries are provided to help patients or their caregivers more fully understand research results. They also provide links to the full text of many research articles.
Some full text articles are free. Others require a reduce-fee payment (much less than ordering from the publisher!).
(Always check to see if you can get the article for free or at even lower cost from your area public, medical, or academic library – most libraries will try to help anyone who contacts them directly)
Independent high-quality evidence for health care decision making
- Cochrane Collaboration provides well researched reviews of the strongest evidence available about healthcare interventions (as drugs, medical tests, and medical procedures). Every available treatment/test has not yet been reviewed. However each review is conducted in depth by experts.
To find plain language and audio summaries of Cochrane Reviews
- Go to the Cochrane Reviews Home page and scroll down to Browse Free Summaries
- Click on a topic OR scroll down and click on All Summaries
- The All Summaries page will allow you to
- Search by entering words and short phrases (as headache, multiple sclerosis drugs, asthma acupuncture
- Browse by Health Topics (left column)
- Include only these in the search results
- Podcasts – audio summaries
- PEARLS – guidance and advice for real time decisions
Related Blog Items
- How to read a research paper (and also understand medical/health news items)
- HealthNewsReview.org – Independent Expert Reviews of News Stories (jflahiff.wordpress.com)
Cannot find a plain language summary with the above resources?
Consider asking a reference librarian for help at your local public, academic, or hospital library. Many academic and hospital libraries provide at least limited reference service to the public.
Call or email them for information about their services.
You may also contact me at jmflahiff@msncom. I will do my best to reply within 48 hours.
The Rare Diseases Clinical Research Network (RDCRN) was created so that experts on many different rare diseases could communicate and work more closely with each other. RDCRN is working on researching and treating rare diseases. For more information about the goals of RDCRN, click here.
Other rare disease resources include
**MedlinePlus Rare Disease Web Site
**Genetic and Rare Diseases Information Center (Office of Rare Diseases, National Human Genome Research Institute)
**Rare Disease Information (New Zealand Organizasation for Rare Disorders) Aimed to professionals, but useful to many members of the general public
**Rare Diseases Resource Page