Target audience: postgrad or Patient Advocates
Topics covered:
- The diagnostic process and the types of genetic tests available for rare diseases
- The differences in rare genetic diseases patient pathways
- Technological advances for diagnostic research
- The role of collaborative studies and data sharing in rare diseases diagnosis
-...
Scientific topics: Rare diseases
Keywords: Rare Diseases & Research
Resource type: e-learning
Through the Open Academy, EURORDIS empowers patient advocates to have the confidence and knowledge needed to bring their expertise to discussions on health care, research and medicines development. EURORDIS alumni engage in these discussions as equal partners, side by side with policy makers,...
Scientific topics: Rare diseases
Keywords: Rare Diseases & Research, Rare Diseases
Resource type: course materials, e-learning
Webinars mainly address very rare diseases, complex disorders, highly specialized procedures and implementation of guidelines. At the same time, webinars' programs that are specifically addressed to patients intend to increase the awareness on a specific rare hematological disease among patients'...
Scientific topics: Rare diseases
Keywords: Rare Diseases & Research
Resource type: Webinar, e-learning
This course focuses on genomic sequencing.
Topics covered:
- The changing landscape of genomics: From Sanger sequencing to Next Generation Sequencing
- Overview of Next Generation Sequencing platforms and their methodology
- Targeted resequencing
- Alignment, variant calling and...
Scientific topics: Rare diseases
Keywords: Rare Diseases & Research
Resource type: e-learning
EULAR (European League Against Rheumatism) has made substantial efforts and investment in developing e-learning opportunities with the newest developments in the field of rheumatology.
All EULAR courses are highly subsidized and managed by a scientific course committee responsible for the...
Scientific topics: Rare diseases
Keywords: Rare Diseases & Research
Resource type: online modules, e-learning
In response to rare-disease patients’ desire to make research more meaningful to their community, PCORI created an online Program for Rare Disease Patient Advocates.
Scientific topics: Rare diseases
Keywords: Rare Diseases & Research
Resource type: educational materials, e-learning
The portal is aimed at rare disease advocates, patient groups and charities, though anyone with an interest in rare diseases or advocacy is welcome to sign-up. It is completely free to use, and users are encouraged to contact Findacure with suggestions for new content.
The portal shares ‘how to’...
Scientific topics: Rare diseases
Keywords: Rare Diseases & Research
Resource type: Webinar, Video, Presentation, Training materials, e-learning
Clinical Bioinformatics I is a 10 credit module of the new MSc in Clinical Bioinformatics, delivered by Nowgen/NGRL and the University of Manchester in the UK. Clinical Bioinformatics is one of the streams of the NHS Scientific Training Programme (STP). The programme is a mixture of work...
Keywords: Clinical bioinformatics, Genomics, Introduction bioinformatics
This presentation examines the available in silico tools for protein structure and function prediction. It examines the major protein family databases (PROSITE, PRINTS, Pfam, etc.), and explores why tools like PSI-BLAST, while convenient and easy to use, may not always give optimal results. The...
Keywords: Expert systems, Genequiz, Protein family characterisation, Protein family databases, Protein sequence analysis, Psi blast
This presentation introduces the background to the InterPro database: what it is, where it came from, and what was the vision behind its creation. It examines in particular whether the database has evolved in line with its original vision, and asks whether the resource is still fit for purpose.
Keywords: Integrated diagnostic tools, Protein family characterisation, Protein sequence analysis
A presentation designed to introduce the concept of protein family analysis and characterisation using motif-based methods, with a particular focus on protein fingerprinting. Following a general introduction to sequence analysis, and the fingerprint approach, specific examples are given to...
Keywords: Functional diagnosis, Protein family characterisation, Protein sequence analysis