Sentences with phrase «on rare disease research»

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.

Not exact matches

Stoke Therapeutics Expands Leadership Team, Building on Deep Expertise in Oligonucleotide Chemistry and Rare Disease Research and Development

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.

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

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.

«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.

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.

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.

«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.

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.

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.

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.

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...

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.

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.

Sara Mole (UCL) discusses her work on Batten disease, as well as the universal challenges encountered when researching and treating rare neurological diseases.

Overall, despite the dramatic therapeutic advances made elsewhere in the melanoma field, the poor prognosis of patients with mucosal melanoma mandates continued emphasis on laboratory and clinical research efforts in this rare subset of disease.

Building initially on world - leading pre-clinical and clinical research into epilepsy and motor neurone disease, the FutureNeuro Centre is a scalable platform that will expand quickly to focus on other chronic and rare neurological diseases.

It provides advocacy, education, research and patient services on behalf of rare disease patients, families, and patient organizations.

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.

The major goals of E-Rare are to foster systematic exchange of information and build transnational research programme on rare disease.

He is the President and Founder of Noventia Pharma Specialty Pharma, a European - based company he founded in 2009 that is focused on the research of rare and neglected diseases.

The progress on the previous goals has shown that the international rare diseases research community is eager to share knowledge and experience, and work collaboratively across borders in order to bring diagnoses and therapies to patients.

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.

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.

An article on the role of RD - Connect in rare disease research has been published in the Spanish online magazine Diario Medico.

NIH Clinical Center (CC)-- Est. in 1953 The NIH Clinical Center, America's research hospital, provides a versatile clinical research environment enabling the NIH mission to improve human health by investigating the pathogenesis of disease; conducting first - in - human clinical trials with an emphasis on rare diseases and diseases of high public health impact; developing state - of - the - art diagnostic, preventive, and therapeutic interventions; training the current and next generations of clinical researchers; and, ensuring that clinical research is ethical, efficient, and of high scientific quality.

This is a time of renewed «participatory research,» where patients and patient - led foundations like Emily's Entourage and CDCN, along with the Orphan Disease Center, are the key drivers behind basic research on rare diseases.

Capitalizing on the momentum of progress made in rare diseases research over the past six years, the International Rare Diseases Research Consortium (IRDiRC) devised a new set of global rare disease goals for the upcoming decrare diseases research over the past six years, the International Rare Diseases Research Consortium (IRDiRC) devised a new set of global rare disease goals for the upcomingresearch over the past six years, the International Rare Diseases Research Consortium (IRDiRC) devised a new set of global rare disease goals for the upcoming decRare Diseases Research Consortium (IRDiRC) devised a new set of global rare disease goals for the upcomingResearch Consortium (IRDiRC) devised a new set of global rare disease goals for the upcoming decrare disease goals for the upcoming decade.

The Area of Genomic Medicine is devised as a scientific production structure which will preferably include research groups centred on work in the area of genetic epidemiology of some of the main public health problems (cancer, autoimmune diseases, cardiovascular diseases, diabetes, rare diseases, etc.).

Research on many rare diseases has been severely hampered by the ability to find and study the genes responsible.

Ms. Aiach has been involved with several not - for - profit organizations engaged in advocacy and research in the field of rare diseases such as Alliance Sanfilippo and Eurordis, where she served on the board as treasurer from 2010 to 2011.

During her fellowship, Dr. Vishkautsan, subspecialized in treating complex, both common and rare infectious diseases of dogs and cats and completed a research project on use of anti-fungal drugs in cats.

New York About Blog The Carcinoid Cancer Foundation looks back on the highlights of previous years and to a future that they hope will bring greater awareness of carcinoid and neuroendocrine cancers, earlier diagnosis for patients, new treatment options, and continued research that will lead to a cure for these rare diseases.