Publications by authors named "P Escher"
Article Synopsis
- This project aimed to investigate the standards of genetic testing and counseling for patients with inherited retinal diseases (IRDs) in select European countries, focusing on expert opinions about current challenges and potential improvements in patient care.
- A survey was distributed to professionals across ten European nations, gathering data on the prevalence of genetic testing and counseling practices.
- Results showed that while genetic tests are common and largely funded by public health services, many IRD patients still lack adequate testing and counseling, highlighting the need for better education for healthcare providers, improved access to advanced testing, and more genetic counselors.
Background: Biomarker-based therapies are increasingly used in cancer patients outside clinical trials. Systematic assessment of patient-reported outcomes (PRO) is warranted to take patients' perspectives during biomarker-based therapies into consideration. We assessed the feasibility of an electronic PRO assessment via a smartphone application.
View Article and Find Full Text PDFIntroduction: Mutational screening of inherited retinal disorders is prerequisite for gene targeted therapy. Our aim was to report and analyze the proportions of mutations in inherited retinal disease (IRD)-causing genes from a single center in Switzerland in order to describe the distribution of IRDs in Western Switzerland.
Methods: We conducted a retrospective study of patient records.
Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient with a de novo interstitial heterozygous microdeletion on the short arm of chromosome 2 in the region p11.
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