On 15 December 2022, Orphadata Science was awarded Global Core Biodata Resource status, being one of the first batch of resource to be designated by the Global Biodata Coalition. Orphadata Science (which includes Orphanet‘s scientific knowledge base) was one of the 12 European resources to have been selected following a two-step application process evaluated by […]
FDA Rare Neurodegenerative Disease Grant Program
In addition to the Orphan Products Grants Program that the Office of Orphan Products Development (OOPD) currently administers, a new grant program was established this year by the Accelerating Access to Critical Therapies for Amyotrophic Lateral Sclerosis Act (ACT for ALS) named the FDA Rare Neurodegenerative Disease Grant Program. This new program will be administered […]
NINDS creates the Ultra-Rare Gene-based Therapy (URGenT) Network
The National Institute of Neurological Disorders and Stroke (NINDS) recently created the Ultra-Rare Gene-Based Therapy (URGenT) Network. The URGenT Network supports the development of state-of-the-art gene-based therapies for ultra-rare neurological diseases, which affect as few or fewer than one in fifty thousand people. It supports Investigational New Drug (IND)-enabling studies and planning activities for First-in-Human (FIH) […]
New Rare Care Centre will coordinate rare disease care at Perth Children’s Hospital, Western Australia
On February 25th, IRDiRC member Western Australian Department of Health announced the launch of a new Rare Care Centre in Perth, Western Australia, which will provide a holistic model of care for children with rare and undiagnosed diseases. Based at Perth Children’s Hospital (PCH), the Centre has secured funding from leading Australian philanthropists and foundation, with a total commitment of […]
Dr. Anneliene Jonker interviewed for article on medical devices for rare diseases
IRDiRC member Dr. Anneliene Jonker, Vice Chair of the Therapies Scientific Committee (TSC) of IRDiRC, has been interviewed extensively for an article published in the February 2022 issue of Medical Technology magazine. The article, titled “Medical devices for rare diseases: the unmet need”, presents the goals of the IRDiRC Working Group on MedTech for Rare […]
Working Group Opening: MedTech for Rare Diseases
The Therapies Scientific Committee (TSC), the Interdisciplinary Scientific Committee (ISC) and the University of Twente, the Netherlands, are jointly establishing a Working Group to explore the role and value of medical devices in rare diseases. The Working Group will primarily focus on devices used for either the treatment of rare diseases, such as implants, and […]
EC publishes draft Strategic Research & Innovation Agenda (SRIA) for the Innovative Health Initiative (IHI)
As one of the joint undertakings under Horizon Europe, a draft Strategic Research & Innovation Agenda (SRIA) for the Innovative Health Initiative (IHI) has been published on the European Commission (EC) website. IHI will build on the successes of and lessons learnt from the Innovative Medicines Initiative (IMI). The goal of IHI is to help create an EU-wide health research and innovation ecosystem that facilitates the translation of […]
GEM Japan releases largest-ever open-access Japanese variant frequency panel
August 25th 2020 GEnome Medical alliance Japan (GEM Japan), a Driver Project of the Global Alliance for Genomics and Health (GA4GH), has released GEM Japan Whole Genome Aggregation (GEM-J WGA) — a first-of-its-kind open-access variant frequency panel of 7,609 Japanese whole genome sequences. Researchers at GEM Japan detected >76M autosomal single nucleotide variations（SNV) and >10M autosomal insertion and deletion (INDEL) […]
Shortening the path to Rare Disease diagnosis by using newborn genetic screening and digital technologies
August 11th 2020 The overall objective of this call topic is to shorten the path to RD diagnosis by using newborn/paediatric (infants during their first weeks of life) genetic screening; and, via application of advanced digital technologies that enable rare disease diagnosis / identification. The latter might require consolidation of existing fragmented efforts. In their […]
Shortening the path to Rare Disease diagnosis by using newborn genetic screening and digital technologies
August 11th 2020 The overall objective of this call topic is to shorten the path to RD diagnosis by using newborn/paediatric (infants during their first weeks of life) genetic screening; and, via application of advanced digital technologies that enable rare disease diagnosis / identification. The latter might require consolidation of existing fragmented efforts. In their […]