Sentences with phrase «for rare disease research»

Data sharing is also critical for rare disease research.

This endorsement is a great achievement for RD - Connect and reflects its importance for the rare disease research.

Andreas Roos, University of Newcastle - RD - Connect: Data sharing and analysis for rare disease research

Penn Medicine's Orphan Disease Center will host its fifth annual Million Dollar Bike Ride, where cycling teams that raise money for rare disease research challenge themselves to ride 13, 34, or 72 miles across the Philadelphia area.

The team at UF's Powell Center for Rare Disease Research and Therapy conducted the first in - human study of gene therapy to treat respiratory dysfunction in patients with infantile onset Pompe.

INFRAFRONTIER, provider of resources and services for rare diseases research, strongly supports the EURORDIS campaign.

Additionally, IRDiRC also published articles on its Policies and Guidelines, A Global Approach to Rare Diseases Research and Orphan Products Development, International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases, and the position statement of the Patient - Centered Outcome Measures Task Force, while contributed to some others, as on the importance of international collaboration for rare diseases research.

It is time to build new bridges and raise the bar for rare diseases research worldwide.

Not exact matches

Money for asbestos - related research is hard to come by, court documents noted, because the disease is rare and survival rates are low.

Because this form of cancer is rare, even the Complaint acknowledged that it was difficult for Dr. Taub to get funding to conduct research on a disease that causes so much pain and suffering.

Congressman Chris Collins, along with local medical experts and families living with rare diseases, urged members of the U.S. Senate to pass legislation that boosts funds for research.

«Steep funding cuts for the federal health agencies are counterproductive at a time when innovative research is moving us closer to identifying solutions for rare diseases, new prevention strategies to protect Americans from deadly and costly conditions, advances in gene therapy, new technologies for understanding the brain, and treatments that harness the ability of our immune system to fight cancer.»

New products and developments, such as new drugs for cancer, fresh therapies for rare diseases, progress in medications for HIV / AIDS, and advances in stem cell research had the greatest positive impact.

On the other hand, the emergence of new products such as drugs for cancer, HIV / AIDS, and rare diseases, as well as progress in stem cell research, are strong positives in the industry's favor.

Beyond its $ 100 - millionper - year platform research, Moderna runs four wholly owned ventures focused on drugs for infectious diseases, rare diseases, immuno - oncology, and personalized cancer vaccines.

Notably, research groups might be able to apply the approach described in this study to develop treatments for other blood diseases such as β - thalassemia, severe combined immunodeficiency (SCID), chronic granulomatous disease, rare disorders like Wiskott - Aldrich syndrome and Fanconi anemia, and even HIV infection.

He expects to emphasize translational research, such as a new NIH program to develop drugs for rare diseases.

Dr Simon Jones, Consultant in Paediatric Inherited Metabolic Disease at Saint Mary's Hospital, Manchester, who is leading the study explains: It's important for us to undertake research in rare diseases, like Sanfilippo Disease, so that we can provide these patients with the best possible care.

The proportion of a rare type of stroke, called spontaneous subarachnoid hemorrhage or sSAH, is increasing among pregnant women, according to preliminary research presented at the American Stroke Association's International Stroke Conference 2018, a world premier meeting dedicated to the science and treatment of cerebrovascular disease for researchers and clinicians.

Items worthy of mention in this context include new drugs for cancer, new therapies for rare diseases, progress in HIV medications, and stem cell research.

Leslie B. Gordon's work on Hutchinson - Gilford syndrome — and research on other related disorders — may have implications far beyond finding a cure for a rare disease.

It is the primary federal agency for conducting and supporting basic, clinical, and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases.

In a paper published in Nature Communications, scientists at the Institute for Research in Biomedicine (IRB Barcelona) provide molecular details about Seckel Syndrome, a rare disease that causes microcephaly, or small brain, and growth delays.

Results of the study, which earlier this year won first prize in the inaugural «PAN Challenge» for research on improving access to critical medications for Americans with chronic and rare diseases, showed that patients in the latter, high - cost group were significantly less likely (45.3 percent vs. 66.9 percent) to have a Part D claim for a TKI prescription within six months of their CML diagnosis, compared to the subsidized, low cost - sharing group.

Investigating mouse models for biological for research The congress aims to promote the International Mouse Phenotyping Consortium (IMPC) mouse lines, importance of mouse phenotyping & clinical and drug discovery collaboration, to present progresses performed by IMPC with regards CRISPR editing genome, rare diseases, microbiota and ageing pipeline, as well as illustration of examples of scientific projects about «Animal models for human diseases» and recent developments in mouse models phenotyping imaging.

The Policies and Guidelines, ratified by IRDiRC members for implementation in their respective rare disease research programs, are structured around 11 major topics: data sharing and standards, ontologies, diagnostics, biomarkers, patient registries, biobanks, natural histories, therapeutics, model systems, publication and intellectual property, and communications.

The French Foundation for rare diseases (Fondation des maladies rares), in partnership with TEFOR infrastructure, launches its first call for research projects «Small animal models and rare diseases».

Funding organizations (i.e., funding bodies, groups of funders (for small funders), companies) investing more than 10 million USD over 5 years in rare disease research

The findings, being presented as part of a poster presentation at the Annual Meeting of the American Association for Cancer Research (AACR) being held in Philadelphia this week, could have therapeutic implications specific to this rare form of the disease, say the authors.

WASHINGTON, DC — May 16, 2010 — At a time when the cost of developing a new drug is skyrocketing and research money is tight, it is important to be creative in designing new therapies for rare diseases and bringing them to market, according to speakers at the eighth Annual Meeting of the American Society for -LSB-...]

Survey and Strategic Analysis on Future Themes and Needs for Rare Diseases Research Funding In the European Council recommendation on rare diseases (RD), Member States arRare Diseases Research Funding In the European Council recommendation on rare diseases (RD), Member States arrare diseases (RD), Member States are...

Penn Medicine has been at the forefront of rare disease research for decades, and these efforts — as well as many of its other research and clinical milestones — are being honored this year as part of the Perelman School of Medicine's 250th anniversary celebration.

For more than 25 years, the University of Chicago Medicine Comprehensive Cancer Center has been a pioneer in the treatment and research of malignant mesothelioma — a rare disease that affects approximately 3,000 Americans each year.

Her current research is focused on the identification of genes and molecular pathways for rare disorders and she is the Lead Investigator of the Genome Canada, CIHR funded «Finding of Rare Disease Genes in Canada» (FORGE Canada) and «Enhanced CARE for RARE Genetic Diseases in Canada» initiatirare disorders and she is the Lead Investigator of the Genome Canada, CIHR funded «Finding of Rare Disease Genes in Canada» (FORGE Canada) and «Enhanced CARE for RARE Genetic Diseases in Canada» initiatirare disorders and she is the Lead Investigator of the Genome Canada, CIHR funded «Finding of Rare Disease Genes in Canada» (FORGE Canada) and «Enhanced CARE for RARE Genetic Diseases in Canada» initiatiRare Disease Genes in Canada» (FORGE Canada) and «Enhanced CARE for RARE Genetic Diseases in Canada» initiatiRare Disease Genes in Canada» (FORGE Canada) and «Enhanced CARE for RARE Genetic Diseases in Canada» initiatiRARE Genetic Diseases in Canada» initiatiRARE Genetic Diseases in Canada» initiatives.

In line with the objectives of the International Rare Disease Research Consortium (IRDiRC), we aim to develop novel tools that will allow to make more accurate diagnoses, predict the disease course and the efficacy of available treatments, and help developing new and better therapies for rare kidney diseaRare Disease Research Consortium (IRDiRC), we aim to develop novel tools that will allow to make more accurate diagnoses, predict the disease course and the efficacy of available treatments, and help developing new and better therapies for rare kidney diDisease Research Consortium (IRDiRC), we aim to develop novel tools that will allow to make more accurate diagnoses, predict the disease course and the efficacy of available treatments, and help developing new and better therapies for rare kidney didisease course and the efficacy of available treatments, and help developing new and better therapies for rare kidney disearare kidney diseases.

Some research efforts are closer to clinical implementation, including developing improvements in clinical management of rare diseases and trials of small molecule therapies for inherited and mosaic genetic disorders.

October 25, 2016 UChicago Medicine designated as first cavernous angioma center of excellence Angioma Alliance, the nation's only patient advocacy nonprofit for individuals impacted by cerebral cavernous angiomas, has designated the University of Chicago Medicine as its first Clinical Center of Excellence for treatment and research into the rare disease.

A Boston family are in a race against time to raise money for research to help save their son's life, after he was diagnosed with an extremely rare genetic disease at just six months old.

The mission of the Center for Predictive Medicine for Biodefense and Emerging Infectious Diseases (CPM) is to improve human health by conducting basic and translational research that leads to the development of effective diagnostic biomarkers, vaccines, antivirals and therapeutics for emerging, re-emerging, neglected or rare infectious diseases.

This tool is one of the main outcomes of RD - Connect, the EU - funded project that has built a community of patients, clinicians, researchers and bioinformaticians in Europe and beyond, and has advanced collaboration and data sharing to facilitate and accelerate research for rare diseases.

Summary: A two day meeting to demonstrate to the wider scientific community where the IMPC is trying to go and how to include clinical scientists, geneticists and the rare disease research community, followed by two simultaneous one day workshops (phenotyping and EUCOMMTOOLS) to plan for Phase II phenotyping and discuss production technology development Attended by: IMPC members, corporate sponsors, external delegates, EUCOMMTOOLS members and IKMC members Hosted / funded by: Infrafrontier, EUCOMMTOOLS, CNR Monterotondo

That quick turnaround is particularly important for rare and orphan diseases, those that affect fewer than 200,000 people nationwide, because families and family - run foundations typically fund that research and they do so against a ticking clock — the life of their loved one.

More recently, in a joint initiative with the BBMRI - LPC project (Biobanking and Biomolecular Resources Research Infrastructure — Large Prospective Cohorts) and the Wellcome Trust Sanger Institute, the CNAG - CRG launched a call to promote the use of sequencing technologies for the identification of novel causative variants and genes and to molecularly diagnose rare disease patients.

Collaborative Group of the Americas on Inherited Colorectal Cancer aims to advance research on several rare forms of inherited colorectal cancers, as well as improve clinical care for patients and families affected by these diseases.

4/7/2008 From Bench to Bedside in One Year: Stem Cell Research Leads to Potential New Therapy for Rare Blood Disorder A unique partnership between industry and academia has led to human clinical trials of a new drug for a rare class of blood diseases called myeloproliferative disorders (MPD), which are all driven by the same genetic mutation and can evolve into leuk... MorRare Blood Disorder A unique partnership between industry and academia has led to human clinical trials of a new drug for a rare class of blood diseases called myeloproliferative disorders (MPD), which are all driven by the same genetic mutation and can evolve into leuk... Morrare class of blood diseases called myeloproliferative disorders (MPD), which are all driven by the same genetic mutation and can evolve into leuk... More...

In 2014 the CNAG - CRG together with CIBERER launched a call to the Spanish research community offering free - of - charge Whole Exome Sequencing and bioinformatic analysis for disease gene identification in rare disorders.

From cytogenetic research to genome - wide copy number association from micro-arrays, SVS delivers a powerful toolset for correlating common and rare chromosomal aberrations with disease.

If used broadly, the recognized platforms / tools / standards / guidelines advance research and clinical services for rare diseases.

The goal of IRDiRC is to team up researchers and funding organizations across the world that are strongly involved in rare diseases research in order to achieve two main and ambitious objectives: deliver 200 new therapies for rare diseases and means to diagnose most rare diseases by the year 2020.

The successful linking of research funding organizations in E-Rare-1 and the subsequent exemplary joint funding activities have attested the need of, and the acknowledgment from, the research community for transnational funding of collaborative, multidisciplinary and ambitious projects on rare diseases.