|
|
|
|
April 2022
|
|
ERN-ITHACA Projects
|
|
The newly established Fetal Medicine WG is looking for active members!
ERN-ITHACA’s WG on Fetal Medicine is a new working group within our network and for the new workplan, its activities will focus on generating and sharing knowledge on fetal medicine, particularly through activities such as the close collaboration with the Human Phenotype Ontology for the expansion of HPO for foetal phenotypes, a mapping of the prenatal diagnostics strategies in place in different Member States through HPC and patient-targeted surveys in order to evaluate the potential gap in services, and through the support to the organisation of a congress on Fetal medicine, accompanied by a winter school dedicated to young professionals that want to deepen their knowledge in the area.
|
If you are a professional or a patient representative interested in the field of fetal medicine, please fill out this questionnaire: https://forms.office.com/r/r87PshW7b3 to express your interest in joining the group.
|
|
Also, please do not hesitate to send this information to any potential interested colleagues.
|
|
|
EURODYSMORPHO | Submit your Abstract!
|
|
|
The deadline for submission is 27 May.
|
Eurodysmorpho is open to any presentation in the field of human development (large series of patients or single, illustrative case reports).
|
This year's edition will be held in Barcelona on the 14,15,16 and 17 of September 2022.
|
|
For more information, please visit our website or write to us at coordination@ern-ithaca.eu.
|
|
|
|
ERN-ITHACA intermediate Board | @Vienna, ESHG, June 2022
|
|
If you have not already, we would appreciate if you could tell us whether you will participate via this online form before the 10th of May.
|
|
|
|
APOGeE Text Book | Campaign for authors
|
The APOGeE textbook is still looking for authors. APOGeE (A Practical Online Genetics e-Education) is a free online textbook to be written by authors from the ITHACA network and other ERNs. Its topic covers biological genetics, formal genetics, a clinical and physiological approach to genetic diseases, precision medicine, and treatment of genetic diseases.
|
|
If you want to participate in its creation, please have a look at this provisional table of contents and fill in this online form to indicate the chapter(s) you would like to work on.
|
|
We encourage you to share these links around you, to professors or researchers that might be interested.
|
|
|
|
(Screenshot of the textbook in progress)
|
|
|
|
|
|
European News
|
European conference on Orphan Products and Rare Disease | Register now!
|
The ECRD is recognised globally as the largest, patient-led rare disease policy event in which collaborative dialogue, learning and conversation take place, forming the groundwork to shape goal-driven rare disease policies and allow for important and innovative discussions on a national and international level to take place.
|
Leading, inspiring and engaging all stakeholders to take action, the Conference is an opportunity to network and exchange knowledge with over 1500 stakeholders in the rare disease community – patient advocates, policy makers, researchers, clinicians, healthcare professionals, healthcare industry representatives, academics, payers, regulators and Member State representatives.
|
|
The next ECRD will take place fully online from 27 June to 1 July 2022. You can register via this link: ECRD | Online registration.
|
|
|
|
|
|
|
International News
International PWS Meeting 2022 | Milan, 20th and 21st of May
The International Network for Research, Management & Education on adults with PWS (INfoRMEd-PWS) is organizing the International PWS Meeting 2022, in collaboration with the European Society of Endocrinology.
|
The meeting will be held on May 20 and 21st of 2022 in Milan, Italy, preceding the European Congress of Endocrinology.
|
This meeting is targeted towards medical and non-medical professionals interested and / or involved in the care of adult patients with Prader-Willi Syndrome. Although the focus will be on internal medicine and endocrine aspects, it will also be interesting for other disciplines like cardiologists, nutritionists, clinical geneticists, physicians for intellectual disabilities and pediatricians.
|
|
|
News from EJPRD
|
|
|
|
Research Mobility Fellowship Programme
EJP RD is glad to announce the opening of the call for Research Mobility Fellowships, which aims to support PhD students, postdocs and medical doctors in training to undertake scientific visits fostering specialist research training outside their countries of residence.
|
The exchange can be carried out (1) within the same ERN (Full Members and Affiliated Partners), (2) between different ERNs (Full Members and Affiliated Partners), or (3) between ERN Full Members / Affiliated Partners and non-ERN institutions.
|
Successful applicants should acquire new competences and knowledge related to their research on rare diseases, with a defined research plan and demonstrable benefit to the ERN of the home and/or host institution.
|
The research mobility fellowships are meant to cover stays of 4 weeks to 6 months duration.
|
|
|
|
|
Call for collaborative clinical research on developmental disorders
|
|
|
|
|
|
|
|
|
|
