Edition of 31 May 2022

International News

Global Gene Coalition: A global effort to harmonize gene–disease evidence resources

A new study has been published in the Genetics in Medicine journal on the Gene Curation Coalition (GenCC), composed of several groups and resources providing information on validity of gene-disease relationships. GenCC has created a database bringing together this data: curated gene-disease relationships are submitted by GenCC member organisations, including Orphanet. GenCC thus provides harmonised definitions for different levels of gene–disease validity based on existing resources. The aim of the paper is to show how GenCC enables international collaboration through the standardisation of terminology and the resolution of curation conflicts, thus permitting better consistency in genetic testing and variant interpretation.

FDA's CDER Launches New Accelerating Rare disease Cures Program

FDA’s Center for Drug Evaluation and Research (CDER) has launched the Accelerating Rare disease Cures (ARC) Program. The aim of the ARC Program is to enhance the development of effective and safe treatments for rare diseases. During its first year, the ARC Program will focus on strengthening internal and external partnerships with stakeholders and will engage with external experts to help identify solutions for the challenges in rare disease drug development.

European News

EURORDIS Black Pearl Awards 2023: Nominations open

Nominations are now open for the 2023 edition of the EURORDIS Black Pearl Awards. EURORDIS is encouraging members of the rare disease community to submit their nominations for the 12 award categories, including the Lifetime Achievement Award, Young Patient Advocate Award, European Rare Disease Leadership Award, Policy Maker Award, Scientific Award, EURORDIS Volunteer Awards, EURORDIS Members Award, Media Award, Social Media Award, Company Award for Innovation, Company Award for Patient Engagement and Company Award for Health Technology. The EURORDIS Board of Directors will select the awardees in October 2022, while the winners of the Young Patient Advocate Award and the Social Media Award will be determined by public vote. The winners will be awarded during the next Black Pearl ceremony to mark Rare Disease Day 2023.

The communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

A new study has been published in the Journal of Community Genetics on the communication of genomic results to patients with a rare disease. The aim of the study is to identify optimal methods in communicating these results, comparing identified needs from genomic services in the Czech Republic and in the United Kingdom. The study reveals that time and resources were two major limitations experienced by the services, which are reflected in the patients’ experience. Patients revealed the need for support following the genomic test, including time to ask questions and express concern during consultation.

Quality of care

Current challenges and opportunities in the care of patients with fibrodysplasia ossificans progressiva

A new study has been published in the Orphanet Journal of Rare Diseases on the challenges encountered by patients with fibrodysplasia ossificans progressive, notably in terms of care and research at the international level. The study reveals that patients with fibrodysplasia ossificans progressive encounter significant diagnosis delay, and that there is a need for increased accessibility of information on the disease. The study also highlights the need for enhanced education of health professionals on the disease, as well as increased coordination of care and centralised treatment and resources for the management of fibrodysplasia ossificans progressive.

Quality of life

Impact experience of children and adolescents with Fibrodysplasia Ossificans Progressiva

A new study has been published in the Advances in Therapy journal on patients’ experience with Fibrodysplasia Ossificans Progressiva. The study focuses on children and adolescents and aims at describing their experience from their parents’ perspectives. The study reveals that the most common symptoms for the disease were pain and swelling, while the disease has a substantial impact on their daily lives, notably due to limited mobility. The disease also has an important impact on the patients’ mental health and social interactions.

The challenges of Huntington’s disease on patients’ daily lives

A new study has been published in the Orphanet Journal of Rare Diseases on the daily lives of patients with Huntington’s disease. The study reveals the challenges faced by Huntington patients, including the economic, emotional and physical burden of the disease. Patients are isolated due to the disease, and their caregivers also experience stigma and lack of social interactions. The study highlights the need for interdisciplinary care, including psychological support.

Registries and biobanks

Gaucher Registry for development innovation and analysis of Neuronopathic Disease

The International Gaucher Alliance (IGA) and Cerner Corporation (CERN) have launched the GARDIAN registry (Gaucher Registry for Development Innovation and Analysis of Neuronopathic Disease). The registry is now open for registrations.

The registry will collect retrospective and prospective clinical and health outcome data for patients diagnosed with Type 2 and 3 Gaucher disease, with the aim to provide a more comprehensive understanding of the natural history of disease for nGD patients in order to accelerate early diagnosis and care for patients.

Summary of the edition of 31 May 2022

Editorial
Political news
Scientific news
And also...