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Bank for the Diagnosis and Research on Neuromuscular Disorders (NHMGB)

The BBMRI-ERIC Directory is a tool that collects and makes available information about biobanks throughout Europe that are willing to share their data and/or samples, and to collaborate with other research groups.

MRC Centre for Neuromuscular Diseases BioBank London

Biobank of the Institute of Rare Diseases Research/Institute of Health Carlos III (IIER-ISCIII)

CIBERER Biobank

The Newcastle MRC (Medical Research Council) Centre Biobank for Rare and Neuromuscular Disease is located at the International Centre for Life (Institute of Genetic Medicine, Newcastle University). The MRC Centre for Neuromuscular Diseases is a partnership between Newcastle University and the UCL Institute of Child Health and Institute of Neurology, and is one of the MRC's translational research centres in the UK. The Newcastle MRC Centre Biobank and the affiliated biobank located at the Institute of Child Health (UCL) in London, were established in 2008 and comprise one the five core activities of the MRC Centre for Neuromuscular Diseases aimed at supporting the translational program of the centre. The main objective of the biobank is to provide well characterized, high quality biomaterials such as myoblasts, fibroblasts, DNA, RNA, plasma, serum and urine of patients with neuromuscular disorders to researchers within the centre and the wider scientific community. Currently, the MRC Biobank has assembled a collection of more than 13,000 anonymised rare disease samples mostly derived from NMD patients. In 2010, the Biobank was recognised as an official member of EuroBioBank (http://www.eurobiobank.org/en/information/info_institut.htm) and has applied quality criteria and standard operation procedures in accordance with EuroBioBank protocols. Publication: MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide. doi: 10.1016/j.nmd.2017.07.001

The most representative disorders are:. Genetic disorders affecting the metabolism and the white matter . Chromosome disorders (Down s., Ring chromosome 14 s., Cri du chat s. and Isodicentric 15 chromosome). Neurological diseases (Fragile X s., Mowat Wilson s. and Dravet s.). Rare bone diseases (Crouzon s., Achondroplasia, and Thanathophoric dwarfism). Overgrowth syndromes (Sotos s.)

Collection of muscle and DNA from neuromuscular diseases

The Biobank of skeletal muscle peripheral nerve DNA and cell cultures is part of the Rare Neuromuscular Disease Unit. It collects and stores biological samples for both research and diagnostic purposes.. . Since 1999 it has been partly funded by the Telethon Foundation as part of the Telethon Network of Genetic Biobanks.. . In 2002 it became a partner of the project EuroBioBank funded by the European Community coordinated by Eurordis first (European Organization for Rare Diseases ) and currently by Telethon. It joined BBMRI in 2013.. . The Bank’s quality system is certified by BVQI.. . The Biobank contains a considerable number of biological samples from patients with different rare neuromuscular diseases. It currently stores over 6400 skeletal muscle specimens, approximately 5140 resin-embedded samples for electron microscopy observation, over 200 samples of peripheral nerve for morphological studies and 8117 of DNA samples and cell cultures.. .

The biobank provides samples as a service to the scientific community conducting research on movement disorders and mitochondrial diseases. Different types of biomaterials are available from a single patient (DNA and fibroblasts. The Biobank is founding partner of the EuroBioBank network, the first operating network of biobanks for rare diseases in Europe, and of the Italian Telethon Network of Genetic Biobanks

The biobank provides samples as a service to the scientific community conducting research on neuromuscular disorders. Samples are from patients affected by different forms of muscular dystrophy, including the severe congenital and Duchenne muscular dystrophies, as well as limb girdle muscular dystrophies, congenital myopathies, distal and myofibrillar myopathies, inflammatory myopathies, and metabolic myopathies. Different types of biomaterials are frequently available from a single patient. . The Biobank is founding partner of the EuroBioBank network, the first operating network of biobanks for rare diseases in Europe, and of the Italian Telethon Network of Genetic Biobanks.

Biobank for Genetic Samples (BIOGEN) is established in 2013 and is connected with 4 related diseases registries. The collection. of samples starts since 2008.nBIOGEN collect high-quality biological materials and merges sample collection with Clinical and. Molecular Data of patients affected by rare skeletal diseases in order to improve diagnosis, research and treatment.nBiogen. collect different biospecimens includes human blood samples, DNA, RNA, serum, tissues.nBIOGEN can offer: sample collection,. DNA extraction and quantification, long-time storage, and distribution. BIOGEN acts in collaboration with the patients’ associations. and Networks (BBMRI-ERIC and TNGB)

Genetic Biobank of Siena

Genetic Biobank of Siena

Orphadata provides the scientific community with comprehensive, massive, re-usable and computable quality data sets related to rare diseases from the Orphanet knowledge base.

Orphanet provides information on Patient registries (systematic collections of clinical data for clinical research explicitly focused on a particular rare disease or group of diseases governed by an identified body). Orphanet provides information on Biobanks (any kind of systematic, open-for-collaboration register of biological specimen for clinical research with a clear orientation towards the field of rare diseases)

"To help the ERN community in understanding the process of translation and to support their collective ability to develop knowledge into patient benefit, a catalogue of current translational research services has been developed under the Horizon 2020 funded ERICA project (grant agreement No 964908). The catalogue of services lists various support services provided by national and European organisations and initiatives, ranging from expertise & support, technologies and facilities, models and tools, data and databases, and finally samples."

This tool filters IMT resources by categories and tags, organizing them into five main categories: Translational Project Management, Research and Drug Development, Regulatory Science, Intellectual Property, and Funding. Within each category, subcategories and tags are available to assist users in locating specific resources efficiently.

The "Collections" section within the IMT framework serves as a dedicated hub, offering an array of essential tools specifically curated for the Rare Diseases research community. This compilation includes relevant resources such as the Orphan Drug Guide (ODDG) and the Advisory Committee for Therapeutics (ACT Toolkit), designed d to support and enhance the research on Rare Diseases. The Orphan Drug Guide (ODDG) provides comprehensive guidance on the development, approval, and market introduction of orphan drugs, while the Advisory Committee for Therapeutics (ACT Toolkit) offers a structured framework for therapeutic advisory processes, ensuring informed decision-making and strategic planning. These tools together with other empower researchers with the knowledge necessary for advancing their development of new therapies and treatments.

The "Use Cases" section is a carefully curated repository featuring an assortment of short videos and tutorials, each focused on relevant and specific topics critical to the development of therapies for rare diseases. it aimed to provide researchers, clinicians, and therapy developers with comprehensive insights into various aspects of rare disease therapy development. From understanding the regulatory landscapes to addressing the specific preclinical and clinical challenges and best practices associated with rare disease field, these resources are tailored to offer practical guidance and expert advice. In addition, this section provides Use cases that underscores the importance of meticulous planning, innovative thinking, and strategic management to increase the chance of bringing new treatments for rare disease patients.

The Innovation Management Toolbox (IMT) is a reference library of resources in rare disease translational medicine. It is free to use and has been designed to provide investigators with self-help resources specific to their needs. Each resource is curated to improve searchability and the database is actively maintained.

INFRAFRONTIER, the European Research Infrastructure for modelling human diseases, provides the scientific community with access to valuable mouse and rat strains including resources and services for their generation, phenotyping, and application in specific research pipelines. INFRAFRONTIER archives and distributes transgenic lines via the European Mouse Mutant Archive (EMMA), which currently has more than 8800 strains available for distribution to researchers. EMMA is a core resource of INFRAFRONTIER and is part of its expanding resources and services portfolio.

RD-Connect GPAP is a global genomics and clinical data platform for rare diseases: 1) a central and searchable hub for available hPSC-lines 2) a central registry of clinical studies based on hPSC-lines 3) a standardized identifier for hPSC-lines and register of these standard names 4) a trustworthy data source for hPSC-lines by verifying the ethical and biological conformity of registered lines based on community standards 5) comparability of quality standards in hPSC research 6) certification of quality and ethical provenance of hPSC-lines 7) a platform where any scientist or institution generating or working with PSC lines can register their cell lines, projects or clinical studies

Starting an Adult Rare Tumour Registry is a Health Programme funded project aimed to set-up a clinical registry for EURACAN.

The Core Registry collects common and condition-specific datasets for a wide range of endocrine and bone conditions including those that are covered within Endo-ERN and ERN BOND. The data collected will be used to improve clinical care as well as research. The Core Registry will also advise participants on other suitable studies and registries.

e-REC is an electronic reporting (e-reporting) programme that captures new clinical encounters. This allows for a better understanding of the occurrence of the rare endocrine and bone conditions covered by networks such as Endo-ERN and ERN BOND.

The Duchenne Data Platform (DDP) Catalog

The Duchenne Data Platform (DDP)'s Duchenne Parent Project is a patient-led registry. Patients are the owners of their data and have their own data lockers where they can not only collect their Patient Reported Outcomes (PROs) but can also upload their data from other sources such as hospitals and wearables.

ERKNet, the European Rare Kidney Disease Reference Network, is a collaborative network of expert healthcare providers across Europe dedicated to improving the care and treatment of patients with rare kidney diseases. It facilitates high-quality care through specialized centers, promotes research, and fosters the exchange of knowledge and best practices among professionals. ERKNet also provides resources and support to patients and families affected by these conditions.

ERKReg, a Web-based registry for all patients with rare kidney diseases. The main objectives of this core registry are to generate epidemiological information, identify current patient cohort for clinical research, explore diagnostic and therapeutic management practices, and monitor treatment performance and patient’s outcomes.

ERKReg, a Web-based registry for all patients with rare kidney diseases. The main objectives of this core registry are to generate epidemiological information, identify current patient cohort for clinical research, explore diagnostic and therapeutic management practices, and monitor treatment performance and patient’s outcomes.

Catalog for the GPAP resources.

EURACAN is the ERN for rare adult solid cancers namely: 1) Sarcoma; 2) Rare gynecological cancers (Gestational trophoblastic disease, rare ovarian tumours, rare gynaecological cancers arising in the uterus, cervix, vagina and vulva); 3) Rare cancer of the male genital organs, and of the urinary tract (currently mainly focus on testicual cancers); 4) neuroendorcine tumors; 5) Rare cancer of the digestive tract (Peritoneal malignancies; Biliary tract cancer, Anal cancers); 6) Rare cancer of the endocrine organs (Thyroid cancers: radio-iodine refractory metastatic thyroid cancer, metastatic medullary thyroid carcinoma and anaplastic thyroid cancer; Adrenal malignancies; 7) Rare cancer of the head and neck (nasopharyngeal cancer, nasal and paranasal sinus cancers, salivary gland cancers and middle ear epithelial cancers); 8) Rare cancer of the thorax (thymic cancers, mesothelioma); 9) Rare cancer of the skin and eye melanoma; 10) Rare cancer of the brain and spinal cord

The European Registries for Rare Endocrine and Bone Conditions consists of EuRRECa and EuRR-Bone. The registries are aimed at maximising the opportunity for all patients, health care professionals, and researchers to participate and use high quality, patient-centred registries for rare endocrine and bone/mineral conditions. They work closely together and with Endo-ERN and ERN BOND and are supported by patients, researchers, clinicians, scientific societies, patient societies to build this database.

Registries in the SIMPATHIC Project

Non-registry data assets for the SIMAPATHIC Project (knowledge graphs, ontologies, vocabularies, mapping files, etc.)

Peptide abundances of amniotic fluid samples from CAKUT and non-CAKUT pregnancies.

Proteome data from amniotic fluid samples of CAKUT and non-CAKUT pregnancies.

Regional and cellular gene expression changes in human Huntington's disease brain

Huntingtons disease RNA-Seq transcriptomics dataset

miRNome data from amniotic fluid samples of CAKUT and non-CAKUT pregnancies.

Gene expression for Inclusion Body Myositis

Gene expression for Inclusion Body Myositis

microRNA expression for Inclusion Body Myositis

microRNA expression for Inclusion Body Myositis

Whole exome sequencing in Inclusion Body Myositis

Sample information for Inclusion Body Myositis

Analytical Tools and Algorithms created for Mitochondiral Rare Diseases by the SIMPATHIC project or partners