Corporate Banner
Satellite Banner
Technology
Networks
Scientific Communities
 
Become a Member | Sign in
Home>News>This Article
  News
Return

NIH Names New Clinical Sites in Undiagnosed Diseases Network

Published: Wednesday, July 02, 2014
Last Updated: Wednesday, July 02, 2014
Bookmark and Share
Four-year, $43 million initiative engages broad expertise in study of mystery conditions.

The National Institutes of Health has awarded grants to six medical centers around the country to select from the most difficult-to-solve medical cases and together develop effective approaches to diagnose them. The clinical sites will conduct clinical evaluation and scientific investigation in cases that involve patients with prolonged undiagnosed conditions.

Each clinical site will contribute local medical expertise to the NIH Undiagnosed Diseases Network (UDN). The network includes and is modeled after an NIH pilot program that has enrolled people with intractable medical conditions from nearly every state, the District of Columbia and seven foreign countries. The network builds on a program at the NIH Clinical Center in Bethesda, Md., that for the past six years has evaluated hundreds of patients and provided many diagnoses, often using genomic approaches, for rare conditions.

“Newly developed methods for genome sequencing now provide us amazingly powerful approaches for deciphering the causes of rare undiagnosed conditions,” said Eric D. Green, M.D., Ph.D., director of the National Human Genome Research Institute. “Along with robust clinical evaluations, genomics will play a central role in the UDN’s mission.” Dr. Green and Story Landis, Ph.D., director of the National Institute of Neurological Diseases and Stroke, co-chair the UDN working group.

Undiagnosed diseases are conditions that even skilled physicians cannot diagnose despite extensive clinical investigation. They may not be recognized by doctors because they are rarely seen, are previously undescribed, or are rare forms of more common diseases.

The NIH Common Fund awarded four-year grants of approximately $7.2 million (pending available funds) to each of the six medical centers around the country. James M. Anderson, M.D., Ph.D., director of the NIH Division of Program Coordination, Planning, and Strategic Initiatives (DPCPSI), announced in an NIH telebriefing that the six newly awarded sites join a clinical site already established at NIH in pursuing cutting-edge diagnoses. In addition, this past December, NIH selected Harvard Medical School as the UDN Coordinating Center for the multi-institution network.

“The NIH Undiagnosed Diseases Network has the potential to transform medicine and serve as a catalyst for new discoveries,” said Dr. Anderson. “It is an ideal NIH Common Fund program—the only one focused on diagnoses of rare disorders.”

The following institutions were awarded grants to establish UDN clinical sites:

Baylor College of Medicine, Houston; Principal Investigator: Brendan H.L. Lee, M.D., Ph.D.

Boston Children's Hospital, Brigham and Women's Hospital, and Massachusetts General Hospital, Boston; Principal Investigator: Joseph Loscalzo, M.D., Ph.D.

Duke University, Durham, North Carolina; Principal Investigators: Vandana Shashi, M.D. , and David B. Goldstein, Ph.D.

Stanford University, Stanford, California; Principal Investigators: Euan A. Ashley, M.D., D.Phil., Jonathan Bernstein, M.D., Ph.D., and Paul Graham Fisher, M.D.

University of California, Los Angeles; Principal Investigators: Eric J. Vilain, M.D., Ph.D., Katrina M. Dipple, M.D., Ph.D., Stanley Nelson, M.D., and Christina Palmer, C.G.C., Ph.D.

Vanderbilt University Medical Center, Nashville; Principal Investigators: John A. Phillips, III, M.D., and John H. Newman, M.D.

“This type of program can invigorate a medical center anywhere in the country and in the world,” said William A. Gahl, M.D., Ph.D., clinical director at the National Human Genome Research Institute (NHGRI), director of the NIH-based Undiagnosed Diseases Program (UDP) and co-coordinator of the UDN working group. “Often, patients have a lot of physical complaints and no objective diagnoses. Our goal is to use the latest tools to make a diagnosis that spans the clinical, pathological and biochemical spectrum to uncover the basic genetic defect.”

Since 2008, the UDP has explored this fascinating area of medical research and acquired practical insights in the process of enrolling approximately 600 undiagnosed children and adults in its clinical protocols. The multidisciplinary clinical and research team diagnosed approximately 100 patients (20-25 percent of those evaluated), discovered two unknown diseases and identified 15 genes not previously associated with any other human disease. A combination of genomic and clinical analyses contributed to the diagnoses.

By including an additional six clinical sites, the NIH UDN will both draw upon the unique expertise of new clinical research groups and cultivate opportunities for collaboration among a larger group of expert laboratory and clinical investigators. Physicians within the network will collect and share high-quality clinical and laboratory data, including genomic information, clinical observations and documentation of environmental exposures. They also will benefit from common protocols designed to improve the level of diagnosis and care for patients with undiagnosed diseases.

“The UDN will look at diseases across all clinical specialties using new tools and methods of analysis for the identification of new diseases,” said Anastasia L. Wise, Ph.D., a program director in NHGRI's Division of Genomic Medicine and co-coordinator of the UDN working group that oversees the development and implementation of the UDN. “The network will facilitate collaboration and shared use of genomic tools among the sites.” 

Based on the NIH UDP experience, the UDN Coordinating Center at Harvard Medical School has begun paving the way for the new UDN clinical sites to begin accepting patients. Among the coordinating efforts are the preparation of draft protocols and operating guidelines, and the definition of an initial framework of common practices across the network. The network will share systems for data collection and develop common approaches to patient selection, evaluation and diagnosis.

Each new clinical site may have variations in handling health insurance coverage for clinical testing and care. However, no patient will be turned away from participation in the UDN based on lack of health insurance coverage.

“We believe that there is a substantial unmet demand for the diagnoses of conditions that have perplexed skillful physicians,” said Isaac Kohane, M.D., Ph.D., professor of pediatrics at Harvard Medical School and Boston Children’s Hospital and principal investigator of the Coordinating Center. “We want to address inquiries from physicians and patients throughout the country who require these services and, in doing so, create a 21st century model for diagnosis and treatment in this genomic and information-intensive era.”

UDN investigators will share genomic data from UDN patients with the research community through multiple public repositories. Network-wide data sharing will observe standards of patient privacy, confidentiality and management of health information.

The network will start up and test its operating procedures during its first year. It will progressively expand recruitment of patients so that by the summer of 2017, the rate of admissions at each new clinical site will be about 50 patients per year. For a period this summer, referrals from clinicians on behalf of undiagnosed patients may continue to be made through the existing NIH application pipeline.


Further Information

Join For Free

Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 3,000+ scientific posters on ePosters
  • More Than 4,500+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

Ketamine Metabolism Lifts Depression
NIH-funded team finds rapid-acting, non-addicting agent in mouse study.
Thursday, May 05, 2016
Finding Factors That Protect Against Flu
A clinical trial examining the body’s response to seasonal flu suggests new approaches for evaluating the effectiveness of seasonal flu vaccines.
Wednesday, April 27, 2016
Factors Influencing Influenza Vaccine Effectiveness Uncovered
The long-held approach to predicting seasonal influenza vaccine effectiveness may need to be revisited, new research suggests.
Thursday, April 21, 2016
Study Finds Factors That May Influence Influenza Vaccine Effectiveness
Researchers at NIH have suggested that the long-held approach to predicting seasonal influenza vaccine effectiveness may need to be revisited.
Wednesday, April 20, 2016
Serotonin Transporter Structure Revealed
Researchers determined the 3-D structure of the serotonin transporter and visualized how two common antidepressants interact with the protein.
Wednesday, April 20, 2016
Improving Flu Vaccine Effectiveness
NIH study finds factors that may influence influenza vaccine effectiveness.
Wednesday, April 20, 2016
Submissions Open for the Cancer Moonshot Program
NCI opens online platform to submit ideas about research for Cancer Moonshot.
Tuesday, April 19, 2016
Migration Creates Cancer Cell Vulnerabilities
Scientists found that migration can damage cancer cells’ nuclei and DNA, requiring repairs for their survival. The results may open new avenues for targeting metastatic cancer.
Wednesday, April 13, 2016
NIH Sequences Genome of a Fungus
Researchers at the Institute have sequenced genome of human, mouse and rat Pneumocystis that cause life-threatening Pneumonia in immunosuppressed hosts.
Tuesday, April 12, 2016
NIH Awards Grants to Explore Vaccine Adjuvants
NIH awards six grants to explore how combination adjuvants improve vaccines.
Wednesday, April 06, 2016
Children With Cushing Syndrome May Have Higher Suicide Risk
Researchers at NIH have found that depression, anxiety and suicidal thoughts increase after treatment.
Wednesday, March 30, 2016
Experimental Vaccine Protects Against Dengue Virus
An experimental dengue vaccine protected all the volunteers who received it from infection with a live dengue virus.
Wednesday, March 30, 2016
Couples’ Pre-Pregnancy Caffeine Consumption Linked to Miscarriage Risk
Researchers at NIH have found daily multivitamin before and after conception greatly reduces miscarriage risk.
Friday, March 25, 2016
Study Finds Mindfulness Meditation Offers Relief For Low-Back Pain
Researchers at NIH have found that the MBSR and CBT may prove more effective than usual treatment in alleviating chronic low-back pain.
Wednesday, March 23, 2016
3-D Technology Enriches Human Nerve Cells For Transplant to Brain
This platform is expected to make transplantation of neurons a viable treatment for a broad range of human neurodegenerative disorders.
Friday, March 18, 2016
Scientific News
AACR 2016: Cancer Immunotherapy and Beyond
At this year's meeting there was a palpable buzz around subjects ranging from microbiomics to the tumor microenvironment and cancer vaccines, big data to in vitro and in vivo modeling and drug delivery (to name just a few).
How Skeletal Stem Cells Form The Blueprint Of The Face
USC researchers discover that two types of molecular signals work to control where and when stem cells turn into facial cartilage.
Intestinal Worms Boost Immune System In A Surprising Way
EPFL researchers find that intestinal worm infections cause lymph nodes to produce more immune cells as well as grow in size.
Measuring The Airborne Toxicants Urban Bicyclists Inhale
Researchers analyze breath biomarkers to measure uptake of volatile organic compounds by bicyclists.
Breast Milk Hormones Impact Bacteria In Infants’ Guts
Intestinal microbiome of children born to obese mothers significantly different from those born to mothers of healthy weight, CU Anschutz researchers find.
Newborn Screening Test Developed For Rare, Deadly Neurological Disorder
Scientists have developed a new dried blood spot screening test for Niemann-Pick type C, with goal to speed diagnosis and treatment.
'Kidney on a Chip' Facilitates Safer Drug Dosing
University of Michigan researchers have used a "kidney on a chip" device to mimic the flow of medication through human kidneys and measure its effect on kidney cells.
New Autism Blood Biomarker Identified
Researchers at UT Southwestern Medical Center have identified a blood biomarker that may aid in earlier diagnosis of children with autism spectrum disorder, or ASD.
New Method Allows First Look At Embryo Implantation
Researchers at The Rockefeller University develop a method that shows the molecular and cellular processes that occur up to day 14 after fertilization.
Shining A Light On Bladder Cancer
Researchers scrutinize patterns of mutations in bladder tumor genomes, gleaning insights into the roles of DNA repair and tobacco-related DNA damage.
Scroll Up
Scroll Down
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
3,000+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,500+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FOR FREE!