Sentences with phrase «rare diseases research with»

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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.

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.

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.

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.

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 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.

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 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».

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.

EURenOmics is collaborating with E-Rare, a consortium built to link responsible funding bodies that combine the scarce resources and fund rare disease research via Joint Transnational Calls.

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.

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.

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.

As a post-baccalaureate fellow with the NIH Undiagnosed Diseases Program, Elise researched and developed bioinformatic methods to study rare 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.

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.

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.

PHILADELPHIA — 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.

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.

Research Focus: I dedicate my time and effort to develop high - throughput sequencing technologies such as single cell transcriptomic, ChIP - Seq, ChIA - PET, and many more... The scientific rational is to understand better and with a different angle, the mechanisms of epigenetic regulation of gene expression in (rare) immune cells, pathologically relevant in many diseases such as asthma, SLE, tuberculosis...

Scientific advances can also take a long time, as it is difficult to find sufficient numbers of people with the same rare disease to enable successful research.

Project Violet's breakthrough research is inspired by kids with rare or incurable diseases — and is powered by people like you.

All patients coming to medical attention with a suspected rare disease will be diagnosed within one year if their disorder is known in the medical literature; all currently undiagnosable individuals will enter a globally coordinated diagnostic and research pipeline

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.

Funded as part of the EU's commitment to the International Rare Diseases Research Consortium (IRDiRC), RD - Connect is a global infrastructure project that links omics data with databases, registries, biobanks, and clinical bioinformatics tools into a central research resource for rare diseaRare Diseases Research Consortium (IRDiRC), RD - Connect is a global infrastructure project that links omics data with databases, registries, biobanks, and clinical bioinformatics tools into a central research resource for rare dResearch Consortium (IRDiRC), RD - Connect is a global infrastructure project that links omics data with databases, registries, biobanks, and clinical bioinformatics tools into a central research resource for rare dresearch resource for rare disearare diseases.

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.

In both research and clinical settings, the majority of patients with rare disease lack a clear etiology after exome and genome sequencing.

We also have research interests in cellular regulation by ADP - ribosylation, which links epigenetics to metabolism; lipid kinases; and sphingolipid biosynthesis, which has strong links to both inflammation and cancer, and where mutations in the various proteins involved are associated with a variety of rare diseases.

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.

About Blog Nora's Journey with Early Onset Congenital Scoliosis the crooked road is the road less traveled but far more interesting.This blog is created to share our experiences, stories, research and to hopefully build awareness about this rare disease and hopefully reach other families faced with this diagnosis.

Listen to the podcast here (skip to 49:00) A week later, Associate Professor Monique Ryan represented the Neuromuscular Centre of Research Excellence and discussed diagnosing and caring for children with neuromuscular disorders in line with Rare Disease Day.