The courses have been repurposed from the AES Annual Meeting and other Educational activities. Faculty presentations have been reproduced from the live activity in accordance with faculty copyright content license agreements. Most courses contain the audio, slides and a written transcript of the presented program. The 2005, 2006 and 2007 Courses contain MP3 files that can be downloaded for MP3 Player (iPod) usage
AGI is a worldwide research platform that has the goal to facilitate the clinical development of therapies for ataxias. Features AGI YII webinar series
This seminar focuses on Neurology and was delivered in Salzburg, Austria, from March 3 – 9, 2019. The lectures are prepared by staff from Children's Hospital of Philadelphia (CHOP) in weeklong modules that are prepared in affiliation with the American Austrian Foundation's Open Medical Institute.
ERN-RND provides educational webinars on rare neurological and neuromuscular diseases - in collaboration with the European Reference Network for Rare Neuromuscular Diseases (EURO-NMD) and the European Academy of Neurology (EAN).
EpiCARE ERN has launched a series of educational webinars presented by our experts. The webinars are free to join from anywhere in the world, however pre-registration is required. Topics are related to epilepsy diagnostics and treatment and showcase research output from EpiCARE centres. The webinars will be broadcasted live on the given date and offer an opportunity to ask questions online. For those who cannot attend the live webinars, there will be a possibility to see the recorded webinars. Recordings will be made available after each session. You will also be able to download the presentations in a PDF format.
Genomics England PanelApp is a publicly-available knowledgebase that allows virtual gene panels related to human disorders to be created, stored and queried. It includes a crowdsourcing tool that allows genes and genomic entities (short tandem repeats/STRs and copy number variants/CNVs) to be added or reviewed by experts throughout the worldwide scientific community, providing an opportunity for the standardisation of gene panels, and a consensus on which genes have sufficient evidence for disease association.
Diagnostic-grade ‘Green’ genes/genomic entities, and their modes of inheritance are used in genome interpretation. Originally developed to aid interpretation of participant genomes in the 100,000 Genomes Project, PanelApp is now also being used as the platform for achieving consensus on gene panels in the NHS Genomic Medicine Service (GMS). As panels in PanelApp are publicly available, they can also be used by other groups and projects.
Each month, Cerebral Palsy Research Network (CPRN) will invite one of its investigators to present their study objectives or findings in a webinar open to the public. Presentations will be 20 minutes in length with an open Q&A following the presentation. Participants must register in advance. Webinars will occur on weeknights at 8 pm ET.
The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a wide variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. The data set provided on this website spans 60,706 unrelated individuals sequenced as part of various disease-specific and population genetic studies. The ExAC Principal Investigators and groups that have contributed data to the current release are listed here.
The Genetic Testing Registry (GTR) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials. The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease.
The Movement Disorder Society Genetic mutation database (MDSGene) aims to provide a comprehensive, systematic overview of published data on movement disorder patients reported to carry causative gene mutations.
Find molecular databases & software tools with a combined search of the HSLS Online Bioinformatics Resource Collection (OBRC), Nucleic Acids Research, the BioMed Central Databases collection, and a filtered PubMed search.
An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research
Online Neurovasculature Web-Atlas Resource.
The Axon Registry® is a qualified clinical data registry (QCDR) focused on quality improvement. The Axon Registry offers real-world data across a variety of practices, patients, and cases and uses neurology-specific quality measures that will improve patient care in disease states such as: ALS, child neurology, dementia, DSP, epilepsy, essential tremor, falls, headache, multiple sclerosis, ophthalmology, Parkinson’s, sleep, and depression.
A rare diseases online community where patients, caregivers, healthcare professionals, and organizations can come for support and resources
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