EMA – First oral treatment for spinal muscular atrophy (SMA) recommended for approval

EMA has recommended granting a marketing authorisation in the European Union for the first treatment that can be given orally to patients with certain types of spinal muscular atrophy (SMA), a rare and often fatal genetic disease that causes muscle weakness and progressive loss of movement. Evrysdi is indicated for the treatment of 5q SMA Read more about EMA – First oral treatment for spinal muscular atrophy (SMA) recommended for approval[…]

The EJP RD Rare Disease Day Video is online!

Happy Rare Disease Day! Watch EJP RD contributors answer the web’s most search questions about rare diseases in a new video that you can find HERE (subtitles available).  Like every year, EJP RD is proud to contribute to spreading awareness on Rare Disease Day.   Don’t forget to share the video and subscribe to our Youtube channel and to our Twitter to be kept updated on our funding opportunities, Read more about The EJP RD Rare Disease Day Video is online![…]

ANGELINI FOR FUTURE 2021 – Supports for Independent Research in Rare Diseases – Call for Proposals

(Pre-proposal deadline: 31 March 2021)   Angelini Pharma is an international group, leader in health care and well-being, committed to help patients, doctors and caregivers in the fight against diseases with constant and prevalent attention in the areas of Pain and Inflammation and Mental Health. Angelini Pharma has made research its core business to improve patients’ Read more about ANGELINI FOR FUTURE 2021 – Supports for Independent Research in Rare Diseases – Call for Proposals[…]

1st International Conference on Rare Diseases “Building a Pathway from Diagnosis to Access”

1- 2 March 2021 ONLINE The 1st International Conference on Rare Diseases “Building a Pathway from Diagnosis to Access” recognises that the next decade holds great potential for improvement and that while we cannot predict the future, we all have a role in preparing for it. As the EU shapes its future regulations, strategies and Read more about 1st International Conference on Rare Diseases “Building a Pathway from Diagnosis to Access”[…]

10th International Meeting on Neuroacanthocytosis Syndromes – Networking event

March 10-12, 2021- online event Neuroacanthocytosis syndromes (NA) are a group of rare, but devastating, neurodegenerative disorders, with Chorea Acanthocytosis as the “core” disease of this family. To date there are no treatments that can halt or slowdown the progression of these diseases. Since these are ultra-rare disease, there is very little or no support Read more about 10th International Meeting on Neuroacanthocytosis Syndromes – Networking event[…]

Unlocking innovation and access for rare disease patients in Europe – Sessions recording available

The virtual event Unlocking innovation and access for rare disease patients in Europe was held online on the 22nd of February. With over 700 registrations from across the European rare disease community, the event was full of insights on the impact that policy decisions have the quality of lives of people affected by rare diseases. Read more about Unlocking innovation and access for rare disease patients in Europe – Sessions recording available[…]

Heritable Human Genome Editing Rare Disease Week Discussion

Heritable human genome editing has been proposed as a means of helping parents avoid passing genetic diseases to future generations. But can heritable human genome editing be used safely? On February 26, 2021 at 9:00 am EST (2 pm GMT / 3pm CET / 10 pm CST), join members of the International Commission on the Read more about Heritable Human Genome Editing Rare Disease Week Discussion[…]

IRDiRC: Two New Task Forces

The International Rare Diseases Research Consortium (IRDiRC) is glad to announce the opening of two new Task Forces: “Shared Molecular Etiologies Underlying Multiple Rare Diseases” aiming to address and document the existing challenges in adapting the basket trial approach used in molecularly targeted oncology clinical trials to drugs targeting shared molecular etiologies underlying multiple rare Read more about IRDiRC: Two New Task Forces[…]

Biogen’s virtual event: virtual event: “Unlocking innovation and access for rare disease patients in Europe”

On the occasion of Rare Disease Day 2021, Biogen is pleased to invite you to the virtual event: “Unlocking innovation and access for rare disease patients in Europe” taking place on Monday, 22 February from 14:00 to 15:45 CET. Biogen’s event, done in collaboration with Reuters and EU40, will highlight the need for continued political Read more about Biogen’s virtual event: virtual event: “Unlocking innovation and access for rare disease patients in Europe”[…]

RING 14 – Call For Research Grant Application 2021

Ring14 International yearly solicits international research projects focused on the Ring 14 or chromosome 14 related syndromes. The projects can be basic or pre-clinical, the ultimate goal is to find a cure for these conditions. The Board of Directors of Ring 14 International, is pleased to inform that the 2021 call for applications has been issued Read more about RING 14 – Call For Research Grant Application 2021[…]