Sentences with phrase «by a rare disease at»

Not exact matches

Demonstrating the potential of precision health, a team led by a researcher at the Stanford University School of Medicine has matched existing drugs to errant proteins expressed by patients with a rare eye disease.

These programs, which were discussed last month at a rare - diseases conference hosted by the Wellcome Trust Sanger Institute near Cambridge, UK, aim to provide a genetic diagnosis that could end years of uncertainty about a child's disability.

LCA is a rare inherited eye disease that destroys vision by killing photoreceptors — light - sensitive cells in the retina at the back of the eye.

A team led by researchers at the National Institutes of Health has overcome a major biological hurdle in an effort to find improved treatments for patients with a rare disease called methylmalonic acidemia (MMA).

«So by definition, most childhood diseases are rare,» says Danny Benjamin, a professor of pediatrics at the Duke University 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.

In reality, those diseases are probably caused by a wide variety of extremely rare mutations that vary from one person to the next, complicating efforts to understand and treat them at the genetic level.

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).

GM1 gangliosidosis, or Landing disease, is a rare inherited neurodegenerative lysosomal storage disorder characterized by severe cognitive and motor developmental delays resulting in the death of most patients at a very young age.

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.

Aplastic anaemia is a rare, and potentially fatal, disease of the blood, by which the bone marrow is unable to generate blood cells at the appropriate pace.

Scientists at the Gladstone Institutes scored a rare two - for - one gain by discovering an enzyme that controls the levels of a protein implicated in both Alzheimer's disease and frontotemporal dementia.

With that background set out, it is apposite to turn to the particular situation at hand, namely, an administrative - based challenge to a government decision to exclude from its insurance plan a treatment desired by a patient with a rare disease.