Results 61 to 70 of about 11,812,623 (407)

Translational and Regulatory Challenges for Exon Skipping Therapies [PDF]

, 2014
Several translational challenges are currently impeding the therapeutic development of antisense-mediated exon skipping approaches for rare diseases. Some of these are inherent to developing therapies for rare diseases, such as small patient numbers and ...
Aartsma-Rus, A, Balabanov, P, Bushby, K, Duchenne Parent Project, European Med Agency, Ferlini, A, Ferrara, Italy, Goemans, N, Groningen, Katholieke Univ Leuven, Leiden Uni Medical Center, Newcastle, Pasmooij, A M G, Vroom, E, Wells, D J   +14 more
core   +2 more sources

Tracking sex-dependent differences in a mouse model of CLN6-Batten disease

Orphanet Journal of Rare Diseases, 2019
Background CLN6-Batten disease is a rare neurodevelopmental disorder characterized pathologically by the accumulation of lysosomal storage material, glial activation and neurodegeneration, and phenotypically by loss of vision, motor coordination, and ...
McKayla J. Poppens, Jacob T. Cain, Tyler B. Johnson, Katherine A. White, Samantha S. Davis, Rachel Laufmann, Alexander D. Kloth, Jill M. Weimer   +7 more
doaj   +1 more source

Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions

Orphanet Journal of Rare Diseases, 2021
Background One objective of the Belgian Rare Diseases plan is to improve patients’ management using phenotypic tests and, more specifically, the access to those tests by identifying the biochemical analyses used for rare diseases, developing new ...
Nathalie M. Vandevelde, Pieter Vermeersch, Katrien M. J. Devreese, Marie-Françoise Vincent, Béatrice Gulbis, François Eyskens, François Boemer, André Gothot, Viviane O. Van Hoof, Carolien Bonroy, Hedwig Stepman, Geert A. Martens, Xavier Bossuyt, Laurence Roosens, Julie Smet, Hilde Laeremans, Ilse Weets, Jean-Marc Minon, Kris Vernelen, Wim Coucke, Advisory Board of the Action 1 of the Belgian National Plan for Rare Diseases   +20 more
doaj   +1 more source

Disease Knowledge Transfer across Neurodegenerative Diseases [PDF]

, 2019
We introduce Disease Knowledge Transfer (DKT), a novel technique for transferring biomarker information between related neurodegenerative diseases. DKT infers robust multimodal biomarker trajectories in rare neurodegenerative diseases even when only ...
Alexander, Daniel C., Blumberg, Stefano B., Crutch, Sebastian J., Eshaghi, Arman, Golland, Polina, Lorenzi, Marco, Marinescu, Razvan V., Morell, Pere P., Oxtoby, Neil P., Yong, Keir X., Young, Alexandra L.   +10 more
core   +3 more sources

Quality of life status determinants in hypertrophic cardiomyopathy as evaluated by the Kansas City Cardiomyopathy Questionnaire

Health and Quality of Life Outcomes, 2020
Purpose The present study evaluated how heart failure (HF) negatively impacts health-related quality of life (HRQoL) in hypertrophic cardiomyopathy (HCM) patients and explored the major clinical determinants associated with HRQoL impairment in this ...
Razvan Capota, Sebastian Militaru, Alin Alexandru Ionescu, Monica Rosca, Cristian Baicus, Bogdan Alexandru Popescu, Ruxandra Jurcut   +6 more
doaj   +1 more source

Pharmaceutical compounding of orphan active ingredients in Belgium : how community and hospital pharmacists can address the needs of patients with rare diseases [PDF]

, 2019
Background: Pharmaceutical compounding of orphan active ingredients can offer cost-effective treatment to patients when no other drug product is available for a rare disease or during periods of drug product shortages.
Boussery, Koen, De Spiegeleer, Bart, Peeters, E, Remon, Jean Paul, Van Tongelen, Inge, Vanhoorne, Valérie, Vervaet, Chris, Wynendaele, Evelien   +7 more
core   +2 more sources

Exploring deep learning methods for recognizing rare diseases and their clinical manifestations from texts [PDF]

arXiv, 2021
Although rare diseases are characterized by low prevalence, approximately 300 million people are affected by a rare disease. The early and accurate diagnosis of these conditions is a major challenge for general practitioners, who do not have enough knowledge to identify them.
arxiv  

Small Data Challenges of Studying Rare Diseases.

JAMA Network Open, 2020
The age of big data is in full swing, with researchers in both clinical medicine and public health seeking to take advantage of the increasing availability of massive amounts of electronic and administrative health data.
A. Mitani, S. Haneuse
semanticscholar   +1 more source

Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group

Orphanet Journal of Rare Diseases, 2021
Background Treatments are often unavailable for rare disease patients, especially in low-and-middle-income countries. Reasons for this include lack of financial support for therapies and onerous regulatory requirements for approval of drugs.
W. Gahl, D. Wong-Rieger, V. Hivert, Rachel Yang, Galliano Zanello, S. Groft   +5 more
semanticscholar   +1 more source

Assessing rare diseases prevalence using literature quantification

Orphanet Journal of Rare Diseases, 2021
Introduction Estimating the prevalence of diseases is crucial for the organization of healthcare. The amount of literature on a rare pathology could help differentiate between rare and very rare diseases.
J. Shourick, M. Wack, A. Jannot
semanticscholar   +1 more source