Sentences with phrase «rare disease research at»

Not exact matches

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 Pennsylvania.

«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.»

«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.

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.

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.

«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 delays.

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.

Over the last two decades, important contributions were made at national, European and international levels to foster collaboration into rare diseases research.

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-..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-..at the eighth Annual Meeting of the American Society for -LSB-...]

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.

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.

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.

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.

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.