IRDiRC is pleased to announce that the next edition of the 5th IRDiRC Conference and… RDI partners with EURORDIS Rare Barometer for Global Survey on Journey to Diagnosis for Persons Living with a Rare Disease May 9, 2022 Rare Diseases International (RDI) is partnering with the EURORDIS Rare ...
the population size of 5 million means that many rare diseases do not have an Irish patient organisation. Our study found that involving ‘Rare Diseases Ireland’ (RDI) as key facilitators was effective in mapping
Although Ireland has an active rare disease patient organisation base, the population size of 5 million means that many rare diseases do not have an Irish patient organisation. Our study found that involving ‘Rare Diseases Ireland’ (RDI) as key facilitators was effective in mapping patient ...
Despite having different aetiologies, different rare bone diseases (RBDs) such as hypophosphatasia (HPP), autosomal dominant hypophosphatemic rickets (ADHR), X-linked hypophosphatemia (XLH) and osteogenesis imperfecta (OI) share common clinical features such as growth disturbances, pathological fractures...
Orphanet Journal of Rare Diseases volume 1, Article number: 33 (2006) Cite this article 165k Accesses 135 Citations 40 Altmetric Metrics details Abstract The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5...
Orphanet journal of rare diseases, 9 (1) (2014), p. 87 View in ScopusGoogle Scholar Arain et al., 2012 F.M. Arain, K.L. Boyd, M.J. Gallagher Decreased viability and absence-like epilepsy in mice lacking or deficient in the GABAA receptor α1 subunit Epilepsia, 53 (8) (2012),...
Human diseases with deficiencies in DNA repair have been extremely helpful in elucidating the networks involved in the highly complex cellular response to DNA damage. This has often led to a deeper understanding of the aetiology of the diseases and had consequences for patient management, for example...
Orphanet Journal of Rare Diseases volume 1, Article number: 33 (2006) Cite this article 166k Accesses 135 Citations 40 Altmetric Metrics details Abstract The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5...
There is limited access to molecular genetic testing in most low- and middle-income countries. The iHope program provides clinical genome sequencing (cGS) to underserved individuals with signs or symptoms of rare genetic diseases and limited or no access
Allogeneic hematopoietic stem cell transplantation is mainly indicated in bone marrow dysfunction related to blood diseases, but also in some rare diseases (adrenoleucodystrophy, mitochondrial neurogastrointestinal encephalomyopathy or MNGIE…). After decades, this treatment has proven to be efficient at th...