Sentences with phrase «of rare disease research»

Next to performing Joint Transnational Calls and assessment of the funding mechanisms and results of the funded research projects the E-Rare-1 and E-Rare-2 programmes paid attention to deepening the cooperation and coordination among the E-Rare partners by systematic exchange of information on the national programmes and by strategic activities aimed at a sustainable development and extension of the network of rare disease research funders.

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.

NIH also now wants NCATS to house its $ 18 million Office of Rare Disease Research.

You will find here the information about the opportunities of rare diseases research funding at the national level in «National RD funding initiatives» and «Next generation sequencing facilities database» that groups sequencing platforms from Europe and Associated countires.

Not exact matches

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.

And we'll meet one of the brilliant minds in our local medical community researching rare diseases to help find treatment and a cure.

Because scientists have had difficulty analyzing these interactions, most research has focused on rare familial forms of the disease.

In preclinical studies using cell models that mimicked liver cells of patients with the rare disease Friedreich's ataxia (FA), a widely used cholesterol - lowering drug increased a precursor of HDL (high - density lipoprotein), the «good cholesterol,» according to new research published in PLOS ONE from the Perelman School of Medicine at the University of Pennsylvania.

And in the United States, the National Human Genome Research Institute in Bethesda, Maryland, recently funded three Mendelian Disorders Sequencing Centers that will apply genome sequencing to diagnosing thousands of patients with a wider range of rare diseases, including intellectual disability and developmental delay.

«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.»

The researchers conducted a survey of 210 patients with physician - diagnosed mitochondrial disease recruited through the National Institutes of Health - funded Rare Diseases Clinical Research Network.

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.

In new research, scientists reprogrammed skin cells from patients with rare blood disorders into iPSCs, highlighting the great promise of these cells in advancing understanding of those challenging diseases — and eventually in treating them.

But the new Salk research, published in the journal eLife, suggests that rapamycin could also target the neural damage associated with Leigh syndrome, a rare genetic disease, and potentially other forms of neurodegeneration as well.

«This study shows that researchers working on problems in rare diseases, such as blood pressure in synucleinopathies, can pool together data and ideas and develop a simple bedside test that can perhaps help spot these problems earlier,» says Dr. Kaufmann, the Felicia B. Axelrod Professor of Dysautonomia Research in the Department of Neurology, and professor of medicine and pediatrics at NYU School of Medicine.

Our research has identified a new gene, which is the cause of a severe, rare human disease.

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.

His body of research has focused on how mtDNA mutations contribute to both rare and common diseases by disrupting bioenergetics — chemical reactions that generate energy at the cellular level.

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.

The use of next - generation gene sequencing in newborns in neonatal intensive care units (NICUs) may improve the diagnosis of rare diseases and deliver results more quickly to anxious families, according to new research in CMAJ (Canadian Medical Association Journal).

«Although I wholeheartedly agree that rare variants play a substantial role in human diseases, I also think that the section on GWAS reflects misunderstandings of the concept of GWAS, ignorance of standard practices in GWAS, misinterpretation of published primary research data, and as a result, is misinforming the general readership of Cell,» wrote Kai Wang, a postdoc at Children's Hospital of Philadelphia whose papers were cited in the Cell article.

UCLA researchers led by Drs. Peiyee Lee and Richard Gatti at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have used induced pluripotent stem cells (iPSC) to advance disease - in - a-dish modeling of a rare genetic disorder, Ataxia Telangiectasia (A-T).

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.

In a study published in the journal Proceedings of the National Academy of Sciences, Shinya Yamanaka, MD, PhD, who first created induced pluripotent stem cells (iPSCs), and his colleagues at the Gladstone Institutes found a way to increase the efficiency of stem cell reprogramming through research on a rare genetic disease.

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.

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

In his graduate research, Linsley discovered the gene Stac3 is a component of the excitation - contraction machinery in skeletal muscle and the mechanism by which mutations in that gene cause Native American Myopathy, a rare but devastating congenital disease.

European Journal of Human Genetics has published a key publication describing the achievements of three flagship EU - funded projects — RD - Connect, NeurOmics and EURenOmics — and how they are shaping the rare disease research environment in Europe and globally.

Dr. Gahl's research has focused on the natural history of rare metabolic disorders and the discovery of new genetic diseases.

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 reseaRare 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 rResearch 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 reseaRare 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 researare diseases researchresearch.

Building on research that identified a rare genetic mutation in Italian people that leads to the early onset of Alzheimer's and one in Icelandic people that delays the onset of the condition, a researcher at the University of British Columbia has discovered that using an enzymatic scissor the right way could stave off the cognitive decline associated with the disease.

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

Selected platforms, tools, standards, and guidelines must be of fundamental importance to the international rare diseases research and development community.

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-...]

In addition to discussing the impact of the tool on rare disease research, the paper also explains how it works and is supplemented by two video tutorials.

The strategy developed by research teams and development of I - Stem aims to identify innovative therapies applicable to rare genetic diseases based on exploring the potential offered by human pluripotent stem cells.

The RE (ACT) Congress — International Congress on Research of Rare and Orphan Diseases was initiated in 2012 by the BLACKSWAN Foundation to create a human platform to scale up scientific cooperation on rare and orphan diseRare and Orphan Diseases was initiated in 2012 by the BLACKSWAN Foundation to create a human platform to scale up scientific cooperation on rare and orphan diserare and orphan disease.

This week's headlines include: GSK slims portfolio with sale of rare disease gene therapy drugs, The Focus Shifts in Alzheimer's Research, Healing process after breast cancer surgery may trigger...

With a team of over 200 researchers, Sanford Research is comprised of eight groups that bridge bench, translational and clinical research including: Cancer Biology and Immunotherapies, Pediatrics and Rare Diseases, Diabetes, Cellular Therapies and Stem Cell Biology, Enabling Technology, Environmental Influences on Health and Disease, Genetics and Genomics, and PopulationResearch is comprised of eight groups that bridge bench, translational and clinical research including: Cancer Biology and Immunotherapies, Pediatrics and Rare Diseases, Diabetes, Cellular Therapies and Stem Cell Biology, Enabling Technology, Environmental Influences on Health and Disease, Genetics and Genomics, and Populationresearch including: Cancer Biology and Immunotherapies, Pediatrics and Rare Diseases, Diabetes, Cellular Therapies and Stem Cell Biology, Enabling Technology, Environmental Influences on Health and Disease, Genetics and Genomics, and Population Health.

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.

Led by Gladstone Investigator Bruce Conklin, MD, the research team describes in the latest issue of Nature Methods how they have solved one of science and medicine's most pressing problems: how to efficiently and accurately capture rare genetic mutations that cause disease — as well as how to fix them.

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

His team will drive the discovery and development of compounds to support Moderna's existing and future research partnerships, as well as its internal efforts in rare diseases and oncology.