The diseases … the cures …

You've been to fifty doctors and they still can't figure out what your problem is? See info below on the Undiagnosed Disease Network, a program created by the National Institutes of Health.

https://medicalxpress.com/news/2018-10-hundreds-patients-undiagnosed-diseases.html

Hundreds of patients with undiagnosed diseases find answers, study reports

October 10, 2018, Stanford University Medical Center

More than 100 patients afflicted by mysterious illnesses have been diagnosed through a network of detective-doctors who investigate unidentified diseases, reports a study conducted by scientists at the Stanford University School of Medicine and multiple collaborating institutes.

The long-awaited diagnoses are the fruits of the Undiagnosed Disease Network, a program created by the National Institutes of Health in 2014.

"Our goal is to take on the hardest cases in medicine—to find patients and families with conditions that no one has been able to solve," said Euan Ashley, MD, professor of medicine at Stanford. "We wanted to provide a place that these people could come, so the Undiagnosed Disease Network came together to try to answer that need."

The group, made up of hundreds of doctors across the United States, has so far sleuthed out 132 of 382 previously unknown ailments—roughly 35 percent. "Some of these patients had been waiting decades to put a name to their illness. They tell us how much of a relief it is simply to know what they were up against," Ashley said. But what's most exciting, he said, was that for 80 percent of the network's diagnoses, they distilled actionable information, such as changes to patient therapy, adjustments to future diagnostic testing and recommendations for family screening.

[more at website]

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https://medicalxpress.com/news/2015-09-national-difficult-to-diagnose-patients.html

A national program to diagnose difficult-to-diagnose patients

September 17, 2015 by Jennie Dusheck, Stanford University Medical Center

The National Institutes of Health's Undiagnosed Diseases Network launches today, and Euan Ashley, MRCP, DPhil, associate professor of cardiovascular medicine and of genetics at the Stanford University School of Medicine, has been named co-chair of the UDN steering committee.

The network, which seeks to provide answers for patients with mysterious conditions and to advance medical knowledge of both rare and common diseases, is an outgrowth of a smaller NIH program begun in 2008 called the Undiagnosed Disease Program. The new, expanded network inaugurates an online application gateway for patients, called the UDN Gateway, that will harness the expertise of physicians at six major medical centers across the United States, while integrating patient access, patient consent forms and patient genome and other data through a single Internet portal. Within two years, the UDN expects to handle 250 patients per year.

Ashley, who co-directs Stanford's clinical genomics service and the Center for Inherited Cardiovascular Disease, is interested in precision health—the new approach to health that more precisely defines diseases to better understand them, predicts which individuals or populations are at risk and seeks to prevent disease.

[more at website]

>>3435618

Part 2 The diseases … the cures …

https://medicalxpress.com/news/2015-09-undiagnosed-diseases-network-online-application.html

Undiagnosed Diseases Network launches online application portal

September 16, 2015, NIH/National Human Genome Research Institute

Undiagnosed Diseases Network launches online application portal

This map shows the location of the seven clinical sites located throughout the United States. Credit: Ernesto Del Aguila, NHGRI

The Undiagnosed Diseases Network (UDN), a clinical research initiative of the National Institutes of Health, has opened an online patient application portal called the UDN Gateway. Introduction of this application system sets the stage for the network to advance its core mission: to diagnose patients who suffer from conditions that even skilled physicians have been unable to diagnose despite extensive clinical investigation. These diseases are difficult for doctors to diagnose because they are rarely seen, have not previously been described or are unrecognized forms of more common diseases.

The new system streamlines the application process. All applications for the UDN will go through the Gateway, rather than through individual clinical sites in the network. The Gateway replaces what had previously been a paper-and-mail application process for the NIH Undiagnosed Diseases Program (UDP), which is now part of the UDN. …

The UDN grew out of the success of the Undiagnosed Diseases Program at the NIH Clinical Center in Bethesda, Maryland. Since its 2008 launch, the UDP has reviewed more than 3,100 applications from patients around the world. More than 800 patients have been enrolled for a one-week evaluation. While approximately 25 percent of those have received some level of clinical, molecular or biochemical diagnosis, many patients remain undiagnosed.

By adding six additional clinical sites to the original NIH UDP, the UDN will broaden its diagnostic expertise while expanding the opportunity for patients to participate. These additional clinical sites are:

• Baylor College of Medicine, Houston;

• Duke Medical Center, Durham, North Carolina, with Columbia University, New York City;

• Harvard Teaching Hospitals (Brigham and Women's Hospital, Boston Children's Hospital, Massachusetts General Hospital), Boston;

• Stanford Medical Center, Stanford, California; University of California at Los Angeles Medical Center; and

• Vanderbilt University Medical Center, Nashville, Tennessee.

[more at website]

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https://www.genome.gov/27544402/the-undiagnosed-diseases-program/

NIH Undiagnosed Diseases Program

Overview

The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN), an NIH Common Fund initiative that focuses on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center. Many medical specialties from other NIH research centers and institutes contribute the expertise needed to conduct the program, including endocrinology, immunology, oncology, dermatology, dentistry, cardiology and genetics, among the dozens of participating senior attending physicians.

A longstanding medical condition that eludes diagnosis by a referring physician can be considered undiagnosed and may be of interest to this clinical research program. Of the total number of cases that are referred to this program, a very limited number will be invited to proceed in the study following careful application review by the program's medical team. In general, it takes 8 to 12 weeks for the UDP to evaluate an application, and the waiting list for admission is 2 to 6 months.

Please note that UDP participants may receive consultation regarding their treatment when they arrive for a UDP evaluation, but treatment is usually not provided as a component of the program. The treatment recommendations that NIH clinicians may offer remain the responsibility of the patient and the clinician who refers that patient to the UDP.

The Undiagnosed Diseases Program pursues two goals:

• To provide answers to patients with mysterious conditions that have long eluded diagnosis

• To advance medical knowledge about rare and common diseases

Program Application

• To apply, go to: http://apply.undiagnosed.hms.harvard.edu

Another paradigm is falling ….

https://medicalxpress.com/news/2018-10-markers-dairy-fat-consumption-linked.html

Markers of dairy fat consumption linked to lower risk of type two diabetes

October 10, 2018, Medical Research Council

Higher levels of biomarkers of dairy fat consumption are associated with a lower risk of developing type 2 diabetes, according to new research published today in PLOS Medicine. The study, in more than 60,000 adults, was undertaken by an international consortium led by scientists at the Medical Research Council Epidemiology Unit, University of Cambridge, and the Friedman School of Nutrition Science and Policy at Tufts University.

International nutritional guidelines commonly recommend regular consumption of dairy products as an important source of key nutrients, and in high-income countries, eating low-fat dairy products is encouraged as part of overall recommendations to limit saturated fat consumption. In some research, consumption of dairy products, in particular yoghurt and cheese, has been associated with a lower incidence of type 2 diabetes. But these findings are inconsistent and the evidence remains controversial.

The FORCE Consortium was established by researchers from Europe, North America, Australia, and Asia to examine the relationships of fatty acid biomarkers with diseases. Biomarkers are tell-tale molecules in the body that can be measured accurately and consistently, and act as indicators of dietary consumption.

Concentrations in body tissue of certain types of fat have been found to correlate with consumption of fat rich dairy foods, both in self-reported studies and in intervention studies where participants eat a controlled diet. These biomarkers of dairy fat offer a complementary approach, alongside self-reporting of food consumption, to investigate associations of dairy fat consumption with type 2 diabetes in large populations.

The researchers examined specific biomarkers of dairy fat consumption from a total of 63,682 adults from 16 multi-national studies that are part of the FORCE Consortium. These participants were all free from type 2 diabetes when the first samples were taken, and 15,158 of them went on to develop type 2 diabetes over the follow-up period of up to 20 years. In each of the studies, the researchers analysed the relationships of dairy fat biomarkers with the risk of developing type 2 diabetes.

When all the results of the 16 studies were pooled the researchers found that higher concentrations of dairy-fat biomarkers were associated with lower risk of developing type 2 diabetes. This lower risk was independent of other major risk factors for type 2 diabetes including age, sex, race/ethnicity, socioeconomic status, physical activity and obesity.

For example, if people among the top fifth of the concentrations of dairy-fat markers were compared with people among the bottom fifth of the concentrations, the top-fifth people had an approximately 30% lower risk of type 2 diabetes. …

Senior author, Professor Dariush Mozaffarian, Dean of the Friedman School of Nutrition Science and Policy at Tufts University, said: "While dairy foods are recommended as part of a healthy diet, U.S. and international guidelines generally recommend low-fat or non-fat dairy due to concerns about adverse effects of higher calories or saturated fat. Our findings, measuring biomarkers of fatty acids consumed in dairy fat, suggest a need to re-examine the potential metabolic benefits of dairy fat or foods rich in dairy fat, such as cheese."

Despite the several advantages of evaluating fatty acid biomarkers, the researchers caution that the results cannot distinguish between different types of dairy foods (e.g., milk, cheese, yoghurt, others), which could have differential effects. While these biomarkers are known to reflect dairy fat consumption, levels of the biomarkers could also be influenced by other known or unknown factors or may not be exclusive to dairy intake. Data from non-white populations was also limited, and the authors recommend that further research should be undertaken in diverse populations where different types of dairy products may be consumed with different food preparation methods.

More information: Fumiaki Imamura et al, Fatty acid biomarkers of dairy fat consumption and incidence of type 2 diabetes: A pooled analysis of prospective cohort studies, PLOS Medicine (2018). DOI: 10.1371/journal.pmed.1002670