Category: Events

The Institute of Medical Genetics and Applied Genomics at the University Hospital Tübingen is looking for an academic assistant on a full-time or part-time basis (80-100 %) for a limited period of 2 years with the option to extend. 

You will strengthen the team in the ERDERA and 1M1M projects. These projects focus on the development of mutation-specific, genetic therapies for (ultra-)rare diseases. A platform for individualised therapy development is to be established to ensure the safe, standardised and timely production of the required antisense oligonucleotides (ASOs). 

Find the detailed job description here.

The combination of newborn screening, care pathway and respective therapies led to a major breakthrough for rare diseases in this study: “Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy”.

The study was conducted in the German expert centers Hannover and Tübigen over the period of nearly 2 years. By using a three-tiered screening strategy 3 of over 100.000 newborn infants were screened positive for MLD and received treatment in accordance with the proposed care pathway. 

Find the whole article here.

Patient Journeys are practical quick overviews that guide you through the stages of a rare neurological disease. But do you know how patient journeys are developed? From the first draft made by a patient advocate over surveys and evaluations by clinicians – a patient journey is a lot of work.

How exactly this development process looks like and which ways of disseminating we are focusing on – listen to EURORDIS new episode of ERNs on Air (episode 6) and find out: https://www.eurordis.org/rare-on-air/

Dear ERN-RND members,

It is still possible to register for our ERN-RND annual meeting Care-RND24!

WHO
ERN-RND members (we expect one representative of each HCP on-site)

WHEN
10-11 October 2024

WHERE
University Medical Center Ljubljana, Zaloška cesta 7, 1000 Ljubljana, Slovenia

WHAT
See the programme here

The deadline for on-site registration is 9^th September 2024.

We look forward to seeing you!

If you have any questions please contact Sophie Ripp

We are happy to announce that the ERN-RND Annual Meeting 2024 will be held in Ljubljana, Slovenia, on 10-11 October 2024. We expect one representative of each HCP to be present in Ljubljana. Additionally, online participation will be open to as many colleagues from ERN-RND as possible.