This event has received funding support from the EJP RD’s Networking Support Scheme (NSS) funding opportunity.

A report has been prepared to understand more about the Argonaute syndromes, the event itself, and the feedback.

Read the report here.

The conference will be a hybrid event (in person and online streaming).
Where: Ljubljana, Slovenia, Hotel Slon
When: 1st – 2nd June 2023 (CEST)

SCOPE

The Kleefstra Syndrome Scientific Conference 2023: “Moving towards the uptake and use of Artificial Intelligence (AI) in research and clinical work” focuses on Kleefstra syndrome, a rare genetic disorder with app. 1000 diagnosed patients worldwide. Due to the rarity of the disease, a global perspective is needed to foster new research insights. The event brings together Kleefstra syndrome PAOs, clinicians and researchers from different domains having a common interest: share new research findings related to Kleefstra syndrome that will lead the Kleefstra community to optimize current care and to reach their final goal, the discovering of a life-changing treatment and cure for Kleefstra syndrome. A special focus is given to artificial intelligence (AI), which is generally still something new for the rare disease communities, but it can play a crucial role, especially in shortening the time needed for new research insights.

This event was funded by EJP RD’s Networking Support Scheme.

Registration and more information here.

Registration, programme, and more information here.

Registration and more information here.

The meeting will include talks on cutting edge research from some of the world’s leading investigators in this field. It will also include discussions on developing the new and existing networks required to further progress research in this field and translate recent advances into clinical applicability – the development of multi-centre patient registries, national and international databases and future collaborative projects and grant applications.

There are two options for attending this meeting (there is no charge for tickets for either option, although in-person attendees must cover their own travel and accommodation costs):

• In person in Amsterdam – please note, there are limited tickets available, so book early. If you register and later decide not to attend, please inform us.
• Online – please note, online attendance is available for Thursday 16th March only.

For additional information, please contact the meeting organisers:
Connie Bezzina (c.r.bezzina@amsterdamumc.nl), Nynke Hofman (n.hofman@amsterdamumc.nl), Roddy Walsh (r.t.walsh@amsterdamumc.nl).

Abstract submission
Abstracts are invited for this symposium, especially from early career researchers. A number of submitted abstracts will be selected for talks during Session 6. There will also be poster viewing for all submitted abstracts. Please send abstracts to genetics_abstracts@amsterdamumc.nl (abstract deadline: 17/02/2023).

To improve the existing treatments of those living with rare diseases, academic trials are conducted that focus on drug repurposing. Academic-led clinical trials face a number of challenges; some linked to the multinational nature of the rare disease research and others are more specific to the academia setting including lack of funding, inadequate infrastructures as well as processes to facilitate collaboration. 

The workshop will look to identify obstacles hindering the development of academic-sponsored trials for drug repurposing on rare-diseases. The participants will work together to raise awareness of the difficulties encountered by the different stakeholder groups, promote future collaboration, suggest improvements for services and tools to support the community and impart existing supporting activities. By advancing academic clinical trials in drug repurposing, the workshop hopes to improve the treatment options for those living with rare diseases.

The article written as a result of the NSS meeting, which served as groundwork for the upcoming event, can be found here.

This event has received funding support from the EJP RD’s Networking Support Scheme (NSS) funding opportunity.

The event will be held in Regensburg, Germany, from August 26^th to August 28^th 2022 in a hybrid format, with the goals to enhance understanding of the underlying clinical, molecular and biological characteristics of each syndrome and of genotype-phenotype relationships, to foster ideas and collaborations for next steps in research that may eventually lead to novel disease-modifying therapies, and to unite patient families.

The meeting will be preceded by an international conference on Argonaute proteins and participants of either are invited to attend the other conference.

More information and registration here.

This event has received funding support from the EJP RD’s Networking Support Scheme (NSS) funding opportunity as part of the sixth round of funding in September 2021.

The hybrid event (onsite and online Congress) will take place over two days on July 1st – 2nd in Geneva, Switzerland.

The event is targeted towards professionals (physicians, scientists, patient organisations, allied health
professionals), and the programme can be consulted here.

More information and registration here: https://www.hug.ch/en/symposium-taking-cpss-to-next-level

This event has received funding support from the EJP RD’s Networking Support Scheme (NSS) funding opportunity as part of the seventh round of funding.

The in-person event will take place over three days on June 20th – 22nd in Groningen, Netherlands. The meeting will be hosted by the centre of expertise for PMS of the UMC Groningen, Netherlands, member of ERN-ITHACA.

The outcomes of the meeting will be:

• a strong collaboration between different European research groups and centres of expertise for Phelan-McDermid syndrome
• insight in the needs of the patient representatives and strengthen their participation in research- a priority list of knowledge gaps that need to be studied
• consensus on the variables to be collected in the European PMS database 

More information here: https://ern-ithaca.eu/events/upcoming-events/european-meeting-on-phelan-mcdermid-syndrome/

This event has received funding support from the EJP RD’s Networking Support Scheme (NSS) funding opportunity as part of the second round of funding in September 2020.

The in-person event will take place over two days on June 17th – 18th in Bruges, Belgium.

A BARD-meeting was originally scheduled in July 2020 to be held in the Belgian city of Bruges. Over 100 abstract submissions had been received for the original conference. Unfortunately, the pandemic upset all these plans and the Congress had to be postponed. In this networking conference, selected papers from the abstracts will be presented during the sessions together with invited lectures from the faculty. Others will be able to be presented as electronic on-site and online posters and will be discussed during the meeting and afterwards on the interactive BARD-website.

More information and registration here: http://www.bard-online.com/