Newsletter #59 - July 2022

IRDiRC has four Scientific Committees, one each for Diagnostics, Therapies, Interdisciplinary, and Regulatory aspects of rare diseases research. The Diagnostic Scientific Committee (DSC) identifies current and future bottlenecks to rare disease gene discovery, addresses challenges and roadblocks in rare disease diagnosis, and collaborates with international partners to develop tools and resources to facilitate genomic data discovery, analyses and sharing.

IRDiRC is currently looking for clinicians and experts in genetics, genomics, bioinformatics, molecular diagnostics, and biochemistry who can commit to quarterly teleconferences, a yearly face-to-face meeting, and regular committee activities, including email correspondence.

Interested candidates are invited to send their resume, biosketch and letter of motivation to scisec-irdirc@ejprarediseases.org before the 14th of August 2022.

More information about the The Diagnostic Scientific Committee (DSC) : https://irdirc.org/dsc/

The VASCERN VASCA-WG Monthly Meeting will take place on August 17th, 2022 at 4.00 pm (Paris time).

The VASCERN HTAD-WG Monthly Meeting will take place on August 22nd, 2022 at 5.00 pm (Paris time).

The VASCERN HHT-WG Monthly Meeting will take place on August 26th, 2022 at 8.00 am (Paris time).

Registration is now open for the second international patient symposium on genetic aortic and vascular conditions, which is set for Sunday, August 28, 2022, at Le Méridien Etoile in Paris, France. Registration is free but required.

Confirmed speakers include Dr. Juan Bowen, Mayo Clinic, Dr. Alan Braverman, Washington University in St. Louis, Dr. Scott LeMaire, and Baylor-St. Luke’s, Dr. Hal Dietz, Johns Hopkins, Dr. Kim Eagle, University of Michigan, Dr. Bart Loeys (VASCERN HTAD and MSA WG member), University of Antwerp (Belgium), and Dr. Shaine Morris, Texas Children’s Hospital.

Medical presentations will cover diagnosis, medical and surgical treatments, and genetics related to Marfan, Loeys-Dietz, vEDS, and other genetic aortic and vascular conditions. Attendees will have an opportunity to network with the presenters and with each other.

Please register here

Save the date for the Marfan Foundation's Science in Paris event which will take place in Paris, France from August 29th-September 1st, 2022. This four-day meeting will feature three separate, but connected, meetings which aim to enhance collaboration and discovery to ultimately benefit patients and families. These meetings are:

• August 29, 2022 - DEFY Foundation 5th Scientific Meeting on Vascular Ehlers-Danlos Syndrome
  Registration for this meeting is free, thanks to generous support from the DEFY Foundation
• August 30-31, 2022 - 11th International Symposium on Marfan, Loeys-Dietz, and Related Conditions
  (Aortic Summit Poster Session)
• September 1, 2022 7th  - GenTAC Aortic Summit

Registration opens on April 1st, 2022.

For more information read the event's brochure here

Save the date for the European Academy of Dermatology and Venereology (EADV) conference themed Designing the Future of Dermatology and Venereology, which will take place in Milan, Italy and online from August 7th to 10th, 2022. This four-day event will include over 170 sessions, 600 speakers and a Patient Advocacy Booth.

For more information and registration: https://eadvcongress2022.org/registration/

The Ehlers-Danlos Society is delighted to announce the dates for the International Scientific Symposium on the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders. This will be a hybrid event with options to join in person or virtually.

The International Consortium on Ehlers-Danlos Syndromes and Related disorders is bringing together leading experts, clinicians, and scientists in the field of the Ehlers-Danlos syndromes and hypermobility spectrum disorders for a high quality, scientific program with a focus on Translational Medicine in EDS and HSD – from Basic Science to Community.

September 14-17 is suitable for Healthcare Professionals. September 18 is suitable for members of the EDS and HSD community, their families, and caregivers. 

This event has been approved for up to 20.5 CME/CEU/CE Credits, which will be available for healthcare professionals to claim for sessions that are viewed LIVE.

Early Bird Registration pricing is available until July 1, 2022. After July 1, 2022, full registration costs will apply.

More information and registration here

As part of the training activities proposed by EJP RD, the International Summer School on Rare Disease Registries and FAIRification of Data is a 5-day training programme organised by Istituto Superiore di Sanità (ISS) in close collaboration with EJP-RD task partners, aimed at the international research community, clinicians, medical specialists, registry curators, database managers, healthcare professionals and rare disease patients’ representatives.

The in-person training will take place from September 26th – 30th at ISS in Rome, Italy. The training course may be adapted to an online format in case of uncertainty due to the evolution of the Covid-19 pandemic, or of other adverse conditions that might occur.

The training course consists of two modules, and registration is possible for either module separately or for the course as a whole:

• “Rare Disease Registries”, September 26th – 28th
• “FAIRification of Data”, September 29th – 30th

Registration is currently open but will close on April 13th. As each training module is limited to 30 attendees, those chosen to participate from among the applicants will be informed by May 3rd, with a reserve list open until May 20th (if the training is delivered face-to-face) or September 9th (in case of online delivery).

More information and registration here: https://www.ejprarediseases.org/event/international-summer-school-on-rare-disease-registries-and-fairification-of-data/

CureHHT would like to invite you to join us in Estoril, Cascais, Portugal for the 14^th HHT International Scientific Conference. We will host a Welcome Reception on September 28^th and scientific sessions on September 29-October 2nd, 2022.  The program this year will feature several outstanding keynote speakers (including Dr. Hans-Jurgen Mager), multiple cross-disciplinary sessions, extensive opportunities for presenting and viewing posters and for interdisciplinary discussions.

This normally biennial meeting is well over-due. It is the must-attend event for both established and early-stage researchers, as well as clinicians experienced in treating HHT, and those just entering the field of HHT. Basic research is the engine that drives discovery of new drugs and therapies, but it relies on constant input and feedback from clinicians. Results of clinical research provide new insights in the best ways to diagnose and treat HHT.

The meeting location is situated in the heart of the Portuguese Riviera, overlooking the bays of Estoril and Cascais, close to stunning beaches, historic fishing villages and forts. It is only a 10-minute train journey to the heart of Lisbon, one of the most charismatic and vibrant cities of Europe, and a 15-minute drive to the cooling hills of Serra de Sintra that offers picturesque landscapes and whimsical palaces and gardens. The 5-star Hotel Cascais Miragem Health & Spa offers guests an unmatched combination of culture and beauty. This is a great place for kids and families so bring everyone. The beauty and tranquility of your surroundings will only enhance the 3 and ½ days of collegial and stimulating HHT talks and poster sessions that we have planned for you!

More information and registration: http://science.hhtconference.org/

VASCERN DAYS 2022 will be held from 6 to 7th of October 2022 in Paris, France.

More information to come soon.

It is a great pleasure to invite you to the third edition of the Innovation Bootcamp in Rare Diseases (IBRD2022) congress in Brussels, which will be held on October 11th, 2022.

The target audience of this event includes all professionals involved in the prevention, treatment and diagnosis of rare diseases and orphan drug research and development, including researchers, clinicians, pharma, policy makers and patient representatives.

The program includes the following sessions:

• Tackling delay in diagnostics
• Newborn screening & improvement of prevention
• The impact of patient organisations
• Pricing of Orphan drugs and true cost of illness
• Regulatory & access challenges in orphan drugs

For more information and registration: https://congresscare.eventsair.com/innovation-bootcamp-in-rare-diseases-ibrd22/

As part of the training activities proposed by the EJP RD, a 3-day training course titled “Quality assurance, variant interpretation and data management in the NGS diagnostics era” is being organised by Universitätsklinikum Tübingen, in close collaboration with EJP-RD task partners, aimed the international research community: clinicians, medical specialist, laboratory scientists (EBMG-registered), junior laboratory scientists, clinical geneticists, policy makers and assessors for laboratory accreditation, and patient representatives with a basic knowledge in biology or medicine.

The fully online event will take place from October 19th – 21th.

Registration is currently open until August, 15th 2022. As the training course is limited to 30 attendees, respondents who are not selected will be kept on a waiting list until 7 October 2022.

More information and registration here: https://www.ejprarediseases.org/event/quality-assurance-variant-interpretation-and-data-management-in-the-ngs-diagnostics-era-3/

SAVE THE DATE! The CMTC-OVM (Cutis Marmorata Telangiectatica Congenita and Other Vascular Malformations) association invites you to their Global members’ conference & 25th anniversary that will take place on 28 – 29 October 2022 in the Netherlands.

More information and registration here.

In the context of EJP RD’s ERN Workshops, a face-to-face workshop entitled “Rhabdoid tumors in clinic and research: From basic biology to the patient bed” aimed at discussing the current clinical standard of treatment in rhabdoid tumors, as well as the controversies in the rhabdoid tumors regimen is being organized by Dr. Pascal Johann of the Universitätsklinikum Augsburg.

The in-person event will take place on November 5th, 2022 in the Hotel Novotel at 3-5, Place des Marseillais in Charenton-le-Pont.

Registration is open here, and closes on July 31st. Those selected to participate from among the applicants will be informed by August 15th of their selection.

The workshop is open by prior registration and selection to both PhD or Master students from the life sciences and MD students or residents, although advanced-stage PIs or physicians with more extensive clinical experience are invited to join. All participants must be affiliated to an ERN Full Member or affiliated Partner institution.

The training workshop is free of charge and the training methodology will be based on working in small groups, each one dedicated to a specific question in rhabdoid tumor research and “inverted classroom learning”, wherein the organisors will provide publications prior to the workshop and expect participants to have gained an overview on the topics which will be discussed beforehand. In the second part of the workshop, summaries from each working group will be presented (peer-peer learning), in order for all participants to discern take home messages for each of the major topics.

More information here: https://www.ejprarediseases.org/event/rhabdoid-tumors-in-clinic-and-research-from-basic-biology-to-the-patient-bed/

As part of the training activities proposed by EJP RD, an international course entitled “Training for patient representatives and advocates on leadership and communication skills” is a 2-day training programme organised by Istituto Superiore di Sanità (ISS) in close collaboration with EJP-RD task partners, open to patient representatives involved in the 24 European Reference Networks (ERNs), including members of the European Patients Advisory Groups (ePAGS), and other RD patient advocates.

The in-person training will take place from November 10th – 11th at ISS in Rome, Italy.

The training course may be adapted to an online format in case of uncertainty due to the evolution of the Covid-19 pandemic, or of other adverse conditions that might occur. In case of face-to-face delivery, the organisers have foreseen

• hotel accommodation for all selected participants
• 4 travel and accommodation fellowships for participants living and working in an EU-13 Country or in Turkey.

Registration is currently open but will close on April 13th. The training is limited to 30 attendees, those chosen to participate from among the applicants will be informed by May 3rd, with a reserve list open until May 20th (if the training is delivered face-to-face) or September 9th (in case of online delivery).

More information and registration here: https://www.ejprarediseases.org/event/training-for-patient-representatives-and-advocates-on-leadership-and-communication-skills/

V.A. Cure network are pleased to invite you to VAC 2023, our international conference on Vascular Anomalies, which will be held in Brussels from 31 January to 3 February 2023. The conference is organized by the V.A. Cure network, an EU-MSCA-ITN project that performs vascular research with the aim to find new treatment strategies for vascular anomalies.

VAC 2023 is about the latest developments in basic, translational and clinical research in vascular anomalies. With lectures by top experts in these fields and many opportunities for networking, it will be a unique occasion to exchange knowledge among key players in the chain from fundamental research to clinical applications.

We hope to see you in Brussels!

More information and registration: https://vacure-conference.net/

Save the date! We are pleased to announce that the 11th International Lymphoedema Framework Conference will take place on 13 – 15 June 2023 in Nottingham, UK. The venue is the East Midlands Conference Centre, University of Nottingham.

The conference is organised in collaboration with the Welsh framework, Lymphoedema Wales.

An inspiring scientific programme is being prepared with plenty of possibilities for gaining new knowledge and sharing experiences about lymphoedema and related disorders, and for networking with health care professionals and patients from all over the world.

More information will soon be available on the website.