First US attempt to cure a rare disease with genome editing fails miserably
Sangamo Therapeutics tried to cure two forms of a rare genetic disease using 'zinc finger' gene editing. They successfully changed the genome, but it didn't work to lessen or stop the diseases' effects.
This article discusses the mechanisms involved in the pathogenesis of CS and the pros and the cons of the various antihypertensive agents that are presently available to treat these patients.
We describe the clinical features and course of a patient harboring the rare p.V32A (c.155T>C) variant that was previously described in only two patients and whose pathogenicity was unclear.
supporting studies that advance rare disease product development
Acromegaly is a rare disease with vocal changes being a common clinical finding. The authors present a very rare case of an opera singer with undetected acromegaly for years, whose tessiture progressively changed from tenor, to baritone, to bass. We analyze the evolution of vocal parameters over the years and the outcome after surgical treatment.
ConclusionsWe found a high willingness-to-pay for innovative drugs in oncology and hematology. The wide range of responses observed, however, indirectly implies a lack of consensus on the use of explicit ICER thresholds in Bulgaria.
Conclusion: Automated detection of macular diseases from OCT images might be feasible using the CNN model. Image augmentation might be effective to compensate for a small image number for training. PMID: 31093370 [PubMed]
Authors: Liebowitz J, Hellmann DB, Schnappauf O Abstract Three sisters of Northern European descent provided an opportunity to examine the longterm course and possible familial aspects of a rare disease, polyarteritis nodosa (PAN). Approval and consent was obtained from each patient. PMID: 31092714 [PubMed - as supplied by publisher]
Conditions: Rare Diseases; Genetic Predisposition Intervention: Genetic: WGS-Diagnostic Sponsor: University Hospital Tuebingen Not yet recruiting
Esophageal adenocarcinoma (EAC) is one of the cancers with the most rapidly rising incidence in the West. In the East, EAC is still a relatively rare disease, despite a slight increase that may be explained by a rise in obesity resulting from Westernized eating habits and by a decline in Helicobacter pylori infection.1 This is also reflected by the study by Abe and colleagues,2 including 372 patients, in 13 participating centers, over an inclusion period of 11 years, which comes down to about 2 to 3 patients with EAC treated with endoscopic resection per center per year.
ConclusionHealth information seeking and sharing are important aspects of rare disease patients ’ everyday life. Challenges they face could be overcome in cooperation with patient support groups, health care professionals and health information professionals.