Results 1 to 10 of about 5,265,871 (311)
Orf – an orphan disease? [PDF]
JRSM Open, 2015 Human orf should be considered based on a typical presentation with erythematous papule/nodule to avoid unnecessary over-treatment.
Rahel Meier +4 more
doaj +6 more sources
T2-Low Asthma: A Discussed but Still Orphan Disease [PDF]
Biomedicines, 2023 Asthma affects 10% of the worldwide population; about 5% of cases are severe with the need for target therapies such as biologics. All the biologics approved for asthma hit the T2 pathway of inflammation.
Francesca Peri +5 more
doaj +2 more sources
Drug repositioning for orphan diseases. [PDF]
Briefings in Bioinformatics, 2011 The need and opportunity to discover therapeutics for rare or orphan diseases are enormous. Due to limited prevalence and/or commercial potential, of the approximately 6000 orphan diseases (defined by the FDA Orphan Drug Act as
Anil G. Jegga, Minlu Zhang, Lun Yang
exaly +4 more sources
Orphan disease status of cancer cachexia in the USA and in the European Union: a systematic review. [PDF]
J Cachexia Sarcopenia Muscle, 2019 Anker MS +10 more
europepmc +2 more sources
Mobile DNA, 2021 Background Retrotransposons have been implicated as causes of Mendelian disease, but their role in autism spectrum disorder (ASD) has not been systematically defined, because they are only called with adequate sensitivity from whole genome sequencing ...
Rebeca Borges-Monroy +9 more
doaj +1 more source
The Orphan Disease Networks [PDF]
The American Journal of Human Genetics, 2011 The low prevalence rate of orphan diseases (OD) requires special combined efforts to improve diagnosis, prevention, and discovery of novel therapeutic strategies. To identify and investigate relationships based on shared genes or shared functional features, we have conducted a bioinformatic-based global analysis of all orphan diseases with known ...
Zhang, Minlu +4 more
openaire +2 more sources
Sharing is caring: a call for a new era of rare disease research and development
Orphanet Journal of Rare Diseases, 2022 Scientific advances in the understanding of the genetics and mechanisms of many rare diseases with previously unknown etiologies are inspiring optimism in the patient, clinical, and research communities and there is hope that disease-specific treatments ...
Nathan Denton +6 more
doaj +1 more source
HGG Advances, 2021 Summary: Effective genetic diagnosis requires the correlation of genetic variant data with detailed phenotypic information. However, manual encoding of clinical data into machine-readable forms is laborious and subject to observer bias.
Jignesh R. Parikh +21 more
doaj +1 more source
Data silos are undermining drug development and failing rare disease patients
Orphanet Journal of Rare Diseases, 2021 Data silos are proliferating while research and development activity explode following genetic and immunological advances for many clinically described disorders with previously unknown etiologies.
Nathan Denton +7 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2023 Background X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy with multisystem involvement, often requiring invasive ventilator support, gastrostomy tube feeding, and wheelchair use.
Robert J. Graham +6 more
doaj +1 more source