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Collaborative model for diagnosis and treatment of very rare diseases


Collaborative model for diagnosis and treatment of very rare diseases

The Spanish experience in diagnosis and treatment of TK2d is a model for the diagnosis and development of new treatments for very rare ...

Collaborative model for diagnosis and treatment of very rare diseases

Late-onset thymidine kinase 2 deficiency: a review of 18 cases. Orphanet J Rare Dis. 2019;14(1):100. doi: 10.1186/s13023-019-1071

Collaborative model for diagnosis and treatment of very rare diseases

Lys202del variant. Discussion The higher frequency of TK2d in Spain can be partially attributed to the increased prevalence of 2 variants and ...

Collaborative model for diagnosis and treatment of very rare ...

Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient ...

A unique collaborative model providing supportive and self ...

Acquired funding for research means that the service contributes to international knowledge regarding diagnosis and management of rare, monogenic EDS types. As ...

Collaborate With Us | Rare Diseases Clinical Research Network

The network fosters collaborative research among scientists to better understand how particular rare diseases progress and to develop improved approaches for ...

Collaborative model for diagnosis and treatment of very rare ...

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency. Domínguez-González, C. Madruga ...

Co-constructing effective collective intelligence networks in rare ...

Rare diseases are a particular field of public health that is characterized by scattered, often insufficient knowledge and infrastructure.

Rare Diseases and International Collaboration: Sharing Knowledge ...

To approve a thousand new treatments for rare diseases, most of them for conditions for which there are now no approved treatments, and creating ...

Children's Rare Disease Collaborative (CRDC) Research

The Children's Rare Disease Collaborative (CRDC) at Boston Children's Hospital fuels genomics research around 52 rare disease cohorts to expedite pediatric ...

Global health for rare diseases through primary care - The Lancet

Post diagnosis, effective case management empowers and assists patients and their families, through early education and timely genetic ...

International Collaboration Aims to Revolutionise Diagnosis of the ...

This multi-national research project brings together clinicians who specialise in rare diseases with computer scientists and specialists in medical devices and ...

How collaboration changes the world for people with rare diseases

Understanding and tackling rare disease requires a multi-pronged approach, pooling together knowledge acquired from various scientific ...

Global Network for rare diseases

The complex nature of rare diseases and their infrequency require an evolution in the model of care, from a multi-disciplinary approach to a “networked care” ...

The collaborative journey of rare disease clinical research

Providing detailed information about clinical trials is one way that care teams can foster collaborative relationships with patients and their ...

NORD Rare Disease Centers of Excellence

Each Center offers world-class doctors in all major specialties and brings together medical teams experienced in diagnosing and treating a wide array of rare ...

Collaborative model for diagnosis and treatment of very rare diseases

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency ; dc.contributor.author, Munell ...

Rare diseases: how can we improve diagnosis and treatment?

Collaborative research networks are improving data and resource sharing, common standards and protocols are developing and the average time to a ...

Rare and complex diseases in focus: ChatGPT's role in improving ...

This paper explores the role of ChatGPT, an advanced artificial intelligence model, in improving the diagnosis and treatment of rare and complex diseases.

Rare diseases - Public Health - European Commission

develop new diagnostic methods and pathways · support concrete health benefits to rare disease patients, through better prevention, diagnosis, and treatment ...