Sentences with phrase «in rare disease research»

It has been set up to address the problem of fragmentation in the rare disease research field, where individual efforts often have poor interoperability and do not systematically connect data across the levels of clinical phenotype, genetics and omics data, biomaterial availability and research / trial datasets.

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

In general, the growing participation of CNAG - CRG in rare disease research projects is clear in terms of samples sequenced; while during the period 2014/2015 the total number of processed samples related to rare diseases was of 523 in the period 2016/2017 the number of these samples increased to more than 1600.

Applying the latest available «multi-omics» methods in rare disease research experts aim to diagnose more cases.

Given this scenario, the CNAG - CRG as one of the top genome centers in Europe, is getting more and more involved in rare disease research.

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 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.

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 decade.

Not exact matches

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

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

Gelsinger had a rare liver disease and was participating in gene therapy research at the university when he died.

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 PennsylvaniIn 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 Pennsylvaniin 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.»

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.

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 theIn 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 thein advancing understanding of those challenging diseases — and eventually in treating thein 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.

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.

New preclinical research provides support to a drug that has been repurposed to possibly treat a rare and extremely disabling genetic bone disease, particularly in children.

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.

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.

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).

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 delayIn 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 delayin 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 delayin 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.

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 diseasIn 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 diseasin 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.

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.

IRDiRC looks forward to welcoming more members, in particular from regions that are currently under - represented, ensuring their vital voice, experience and input are integrated into global rare diseases research agenda, bringing diagnostics and therapies to patients globally.

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 diseasIn 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 diseasin skeletal muscle and the mechanism by which mutations in that gene cause Native American Myopathy, a rare but devastating congenital diseasin that gene cause Native American Myopathy, a rare but devastating congenital disease.

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».

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.

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 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 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...

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...

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.

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.

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.

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.