Genetic data in public research databases: Which governance mechanisms should apply?

Scientific Committee Deborah Mascalzoni, Isabelle Budin Ljøsne, Heidi Beate Bentzen Workshop objectives: This workshop aims to: ​explore ethical and legal challenges that may arise when researchers are required to deposit genetic and genomic research data in public research databases investigate governance mechanisms that may support ethically and legally compliant data deposit Data sharing is necessary

Medical Genetics Summer School 2016 – From Next-Generation Sequencing to Translational Medicine in Neurological Disease Research

The Summer School addresses precisely this challenge and covers the entire process from clinical phenotyping, to NGS data analysis, to clinical and genetic follow-ups, to functional validations in model systems, and to finally guide development of therapies and (personalized) clinical applications. In particular, we will focus on neurological disorders like Parkinson’s disease, dystonias, ataxias, and related

$250

Summer School and Workshop on Rare Diseases at the Istituto Superiore di Sanità

Dravet Syndrome Foundation

This autumn, the National Centre for Rare Diseases (CNMR) of the Istituto Superiore di Sanità, Rome, Italy is organising two training events on rare disease registries: The 4th International Summer School on Rare Disease and Orphan Drug Registries (26-28 September 2016). The event is addressed to health professionals, researchers, clinicians and representatives of patient associations

Free

Course on Next Generation Sequencing in Lisbon

3GbTest and RD-Connect are organising a 4-day course on Next Generation Sequencing, taking place in Lisbon, Portugal on 24-27th October 2016. International speakers will elaborate on clinical diagnostics using exome/genome sequences, variant identification and analysis including afternoon practical sessions. The event will include a hands-on training session on the RD-Connect platform. 3GbTest was funded until

$250

Training course “Variant Effect Prediction”

The course will be a blend of theory and practice presented by invited speakers and abstract-selected participant contributions. Practical sessions will combine academic and commercial demonstrations providing participants hands-on experience with computational analysis tools. The demonstrations will cover variety of tools, including RD-Connect, Alamut, Ensmbl and more.

Bring Your Own Data: WikiPathways, nanopubs, and the Rett Syndrome

To study the Rett Syndrome, Maastricht University combines experimental research and bioinformatics. In this research, nanopublications have a lot to offer to WikiPathways, which contains many statements backed by literature. The goal of this BYOD is to expose these statements as FAIR nanopublications with source, so that they can be linked to other data sets.

Workshop “Ethically and legally sustainable partnership between industry and public funded research initiatives: PPP and Rare diseases as a case study”

In recent years, universities have promoted research partnerships with industry to maximize efforts in the search for results and therapies. However, there is fear and concern regarding the ethical challenges, conflicts of interest and exploiting of public resources. Uppsala University, RD-Connect and CHIPme invite you to discuss these issues in a two-day workshop looking at current practices for public private collaborations.

Free

Biannual meeting of the Executive Management Committee

Daniel Renault

The Executive Management Committee (EMC) consists of work package leaders and is responsible for the day-to-day operational management of the project alongside the coordination team.

EMC only

The 3rd IRDiRD conference in Paris

The third conference of the International Rare Diseases Research Consortium (IRDiRC) will take place February 8-9, 2017 in Paris, France at the conference center of Université Pierre et Marie Curie (UPMC) Jussieu.

Rare Diseases Registries Workshop in Madrid

The workshop will bring together all the key stakeholders in the development of rare disease registries and will include issues, such as Health Policies on Rare Diseases, rare disease-related European initiatives, interoperability, best practices, challenges and examples of European rare disease registries.

Free

Bioethics symposium in Vienna

The symposium will discuss the main challenges arising from recent advancements in life sciences. New technologies like stem cell research, organoids and genome editing have raised enormous expectations within the biomedical research community, patients and the general public. At the same time many ethical questions have emerged and need to be discussed in an open dialogue.

World Orphan Drug Congress USA

The World Orphan Drug Congress USA is a place where innovation and expertise is showcased, solutions are found and learning is done. In 2017 we're looking to the future...What, for instance, happens when a global orphan drug biopharma goes into Korea, India and Brazil – places where generics is king? Or how commercially acceptable is

RD-Connect, NeurOmics & EURenOmics joint Annual Meeting

The RD-Connect annual meeting will be held back-to-back with the joint NeurOmics and EURenOmics final meetings. On Wednesday 3rd of May, the three projects will host a joint Outreach Day that will bring together patients, policy makers, researchers and pharma companies.

Free

E-Rare Workshop on data sharing and harmonization

The workshop aims at improving the process of data sharing and harmonization as well as to allow open discussion on further needs. Top specialists in the field will present not only the latest update on the state-of-the-art but also available tools, including hands-on practical session.

Inserm Workshop 246 – phase I in Bordeaux

The workshop will focus on the methodological issues of management and reuse of health data and provide insights and tools regarding open data, FAIR data management, data discovery and reuse, and confidentiality and security.

Inserm Workshop 246 – phase II in Vandoeuvre-lès-Nancy

The workshop will focus on the methodological issues of management and reuse of health data and provide insights and tools regarding open data, FAIR data management, data discovery and reuse, and confidentiality and security.

Inserm Workshop 246 – phase II in Paris

The workshop will focus on the methodological issues of management and reuse of health data and provide insights and tools regarding open data, FAIR data management, data discovery and reuse, and confidentiality and security.

5th International Summer School on Rare Disease and Orphan Drug Registries & Bring-Your-Own-Data workshop

Dravet Syndrome Foundation

The Summer School will consist of plenary presentations and interactive small-group exercises, according to the Problem-Based Learning methodology. The first part of the School (September, 18-20) will provide participants with useful tools and methodologies for establish a registry, the quality of the data collected and how a registry is turned into a FAIR resource. The second part (September 21-22) will be a hands-on experience (bring your own data), where the attendees work with FAIR data experts to make their data FAIR and linkable to other data that has been made FAIR before.

FREE

16th CRG Symposium: Seventh International Workshop on Genomic Epidemiology

The workshop will focus on solutions for collecting and analysing huge data sets, including the identification of rare and common genetic variants associated with disease, functional evaluation of genetic variation, understanding of gene networks and epigenomic phenomena in health and disease, pharmacogenomics, gene-gene and gene-environment interactions.

€100 – €250

Next-Generation Sequencing in a diagnostic setting

The 3-day course in Ljubljana, Slovenia, focuses on clinical diagnostics using exome/genome sequences, variant identification and analysis including afternoon practical sessions

€250

GDPR Code of Conduct for Health Research and implications for FP9

Science 14 14b Rue de la Science, Brussels, Belgium

The Biobanking and BioMolecular resources Research Infrastructure - European Research Infrastructure Consortium (BBMRI-ERIC) is hosting a seminar to assess the impact of the EU General Data Protection Regulation (GDPR) on EU Ninth Framework Programme (FP9) health research and examine how the Code of Conduct for Health Research being developed by BBMRI-ERIC and collaborators will address

Future X Healthcare 2017: Making Data Meaningful

The meeting, organized by Roche, aims to connect key innovation drivers in healthcare for an open and inspiring exchange of ideas, insights and solutions. The one-day event fosters new networks between the worlds of science, industry, VCs, accelerators, start-ups and politics. The presentation by RD-Connect partners from the Netherlands focuses on European data infrastructures linking

rare 2017

Cité des Sciences et de l'Industrie 30, avenue Corentin-Cariou, Paris, France

"rare 2017" is the 5th edition of the Rare Diseases Meetings, which aims to promote a health and research policy in France for people with rare diseases. The language of the event is French. The meting is taking place every two years and bringing together rare disease researchers, clinicians, policy stakeholders, companies active in the rare

TREAT-NMD Conference

The aim of this international conference is to share progress and lessons learned in the area of translational medicine in inherited neuromuscular diseases and plan for the delivery of future therapies to patients.

Webinar for Biobank Data Managers – How to prepare sample data for the RD-Connect Sample Catalogue (p.1)

Two RD-Connect webinars are coming up on how to prepare biosample data for publication in the Sample Catalogue. The webinar is addressed to EuroBioBank, the RD-Connect biobank network, and biobank data managers are especially invited to attend. The Sample Catalogue allows researchers quickly find the stored biological samples from rare disease patients for research. During

Free

Webinar for Biobank Data Managers – How to prepare sample data for the RD-Connect Sample Catalogue (p.2)

Two RD-Connect webinars are coming up on how to prepare biosample data for publication in the Sample Catalogue. The webinar is addressed to EuroBioBank, the RD-Connect biobank network, and biobank data managers are especially invited to attend. The Sample Catalogue allows researchers quickly find the stored biological samples from rare disease patients for research. During

Free

NIH webinar Global Perspectives on Standards and Common Data Elements Used in Patients Data and Biospecimens Collection

Sponsored by the NIH Data Science Special Interest Group The NIH Data Science Special Interest Group is proud to welcome the new year of 2018 and host a session* (broadcast via webinar, see information below) about major initiatives around the world on the need for, challenges around, and implementation of standards in clinical data collections

Free

Ethical review for biobank-based research projects: consensus conference

Promoting ethical standards for primary and secondary uses of data and samples The growing complexity in the use of data highlights gaps in the Ethical Review model currently used throughout. The ethical review for projects using human data and samples is applied unevenly across borders and even across institutions. While some Review Ethical Committees apply

Genetics Matters

International Centre for Life Life Science Centre, Times Square, Newcastle upon Tyne, Tyne and Wear, United Kingdom

This year, Genetics Matters will be talking about the cancer rare diseases, gene therapy, male infertility, sequencing and the 100,000 genomes project, mitochondrial donations and many more hot medical research topics which may have caught your eye in the news. The event is organised under the umbrella of the Rare Disease Day 2018. The event

FREE

4th National Colloquium on Research in Rare Disease

Mater Dei Hospital Triq Dun Karm, L-Imsida, Malta

The Malta BioBank (BBMRI.mt), Centre of Molecular Medicine and Biobanking and the Research Trust (RIDT) of the University of Malta are organising the 4th National Colloquium on Research in Rare Disease. The event is organised under the umbrella of the Rare Disease Day 2018. The Colloquium is being held with the support of the Dean

FREE

RD-Connect on live tweet chat to #ShareOnRare

We’re excited to take part in a live tweet chat to #ShareOnRare organised by Actelion Pharmaceuticals Ltd. The event will shine a light on some of the mutual issues affecting people living with different rare diseases. Join us on Friday 2nd of March for what promises to be an interesting discussion with three other  panel

FREE

The RE(ACT) Congress

Rizzoli Orthopedic Institute Istituto Ortopedico Rizzoli Codivilla-Putti Research Centre via di Barbiano, 1/10, Bologna, Italy

The RE(ACT) Congress – International Congress on Research of Rare and Orphan Diseases aims to create a human platform to scale up scientific cooperation on rare and orphan disease. What makes the congress unique is the interdisciplinary collaboration. It brings together world leaders and young scientist from a variety of breaking through diverse scientific disciplines –

ELIXIR Symposium “Big Data in Medicine and Biotechnology” in Bielefeld

The symposium organised by de.NBI network together with ELIXIR-Germany, will take place at Bielefeld University, Germany, 19th – 21st March 2018. The main part of the Symposium will be dedicated to 12 new or renewed ELIXIR Use Cases, including topics such as Rare diseases, Human Genomics and Translational Data. The event will bring together representatives

RD-Connect Annual Meeting

Divani Palace Acropolis Parthenonos 19-25, Athens, Greece

We are pleased to announce that the next RD-Connect Annual Meeting will take place on the 16-18th April 2018, in Athens, Greece. This will be the last RD-Connect annual meeting before the end of the first project funding period.

Free – €260

ECRD 2018: European Conference on Rare Diseases & Orphan Products

Messe Wien Congress Center Messeplatz 1, Wien, Austria

The next European Conference on Rare Diseases & Orphan Products (ECRD) is going to take place in Vienna, Austria on the 10th-12th of May 2018. The themes of the meeting include: Breakthrough medicines, Structuring Research & Diagnose Landscape, Quality of Life, The Digital Patient, Global Rare Equity, Economical Perspectives in Rare Diseases. The event will

115€ – 430€

RD-Connect GPAP workshop at the European Human Genetics Conference

MiCo – Milano Congressi Piazzale Carlo Magno, 1, Milano, Italy

The RD-Connect team from CNAG, Barcelona, will run a Genome-Phenome Analysis Platform (GPAP) hands-on workshop at the European Human Genetics Conference in Milan, Italy. The workshop will start with an overview of RD-Connect followed by a demonstration of the GPAP and the practical session when the attendees will analyse patient sequencing data in the GPAP

Soapbox Science in Newcastle

Newcastle city centre 150 Grainger Street, Newcastle upon Tyne, United Kingdom

Newcastle University is excited to be hosting Soapbox Science for a fourth year! Inspirational female Scientists from Newcastle will be taking to their soapboxes and wowing the local community with their cutting edge science! We will be commandeering Grey’s monument in the Newcastle City Centre on Saturday 16th June 2018 from 12pm- 3pm. The event

FREE

8th CNAG-CIBERER Symposium on Genomic Medicine Applied to Rare Diseases

Fundación Jiménez Díaz Avda. Reyes Católicos, 2, Madrid, Spain

Over 30 million Europeans are affected by a rare disease at some point in their lives. Although individually uncommon, rare diseases collectively affect as many as 7% of the population or 1 in 17 people. 80% of these diseases are of genètic origin. It is essential to use DNA and RNA sequencing and analysis to

FREE

Webinar: BBMRI-ERIC rare disease work programme

EuroBioBank is organising two webinars arranged as a way to kick-off further discussions and engagements. Each presenter will speak for approximately 30minutes and leave time for questions. The link to webinar will be shared closer to dates. 1) Erik Steinfelder, Director General, BBMRI-ERIC Title: BBMRI-ERIC rare disease work programme Monday 16 July, 1500-1545 CEST 2)

FREE

Webinar: Clinical trial biological sample management: requirements and practices

EuroBioBank is organising two webinars arranged as a way to kick-off further discussions and engagements. Each presenter will speak for approximately 30minutes and leave time for questions. The link to webinar will be shared closer to dates. 1) Erik Steinfelder, Director General, BBMRI-ERIC Title: BBMRI-ERIC rare disease work programme Monday 16 July, 1500-1545 CEST 2)

FREE

Webinar for the ERNs: “Genomic analysis quick and easy: RD-Connect Genome-Phenome Analysis Platform”

online

In this webinar, you will learn how to use the powerful and user-friendly analysis tools in the Platform to interpret, filter and prioritise your variants to identify disease-causing mutations and help diagnose your rare disease patients. The system also allows you to compare your data with data submitted by other members of the RD-Connect community,

FREE

Rare Disease seminar for healthcare professionals in Malta

Villa Francia Triq Preziosi, Ħal Lija, Malta

RARE DISEASE SEMINAR TARGETED FOR COMMUNITY HEALTHCARE PROFESSIONALS Organised by the National Alliance for Rare Diseases Support - Malta in collaboration with the Malta BioBank, BBMRI.mt at the University of Malta. KEY NOTE SPEAKER: Sir Alastair Kent Obe VENUE: Villa Fancia, Lija, Malta

FREE

Webinar for the ERNs: “Finding registries and biosamples in just few clicks: RD-Connect Registry & Biobank Finder and Sample Catalogue”

Speaker: Mary Wang, Fondazione Telethon, Milan, Italy; This webinar will demonstrate how to use two tools, that will help you quickly identify patient registries in Europe and beyond that hold data on your disease of interest. They also let you find rare disease biobanks and browse their sample collections, with detailed information about each individual sample.

FREE

Golden Helix Summer School “Rare Genomics: Genomics of Rare Diseases, Rare Cancers and Rare Drug Outcomes”

Dolphin Bay Family Beach Resort Dolphin Bay Hotel, Σύρος, Syros Island, Greece

The Golden Helix Summer Schools are international educational activities in the field of Genomic Medicine and are organized on a biennial basis, jointly by the Golden Helix Foundation and the Genomic Medicine Alliance. These educational activities constitute a unique opportunity for researchers around the world to expand their knowledge in the rapidly evolving field of

Webinar for the ERNs: “Linking up all those data: why should we make data FAIR”

online

The webinar will explain what are Findable Accessible Interoperable and Reusable (FAIR) data and why it is critical that different types of information, such as medical records, examination tests, sequencing results and availability of biosamples, are made FAIR at the source. Speaker: Marco Roos, Leiden University Medical Center, The Netherlands; Please register to the webinar here.

FREE
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