RD-Connect Newsletter has 1000 subscribers!

13 September 2016

In September 2016, the number of newsletter subscribers reached 1000! We would like to thank our readers for following our updates and being with us all that time.

|Read more…|

World Duchenne Awareness Day

7 September 2016

Contribute to raising awareness and supporting Duchenne patients and families by donating a Duchenne Balloon today.

|Read more…|

The mechanism of Spinal Muscular Atrophy found 20 years after the discovery of the causative gene

6 September 2016

Identifying the cellular mechanism can be a breakthrough in the therapy for SMA. Employing genetic modifiers might revolutionise the treatment and give hope for better quality of life for the patients.

|Read more…|

Next Cross-Project Annual Meeting in Berlin, 1st – 5th May 2017

16 July 2016

The next RD-Connect Annual Meeting will take place in Berlin from the 1st till the 3rd of May 2017 and will be held back-to-back with the joint NeurOmics and EURenOmics final meeting, scheduled for the 4th and 5th of May.

|Read more…|

RD-Connect has 1000 followers on Twitter

30 June 2016

Twitter helps us disseminate the news about RD-Connect’s achievements as well as other relevant information. We thank all of those who by retweeting help us reach broader audience.

|Read more…|

Statement from the Newcastle coordination office on the outcome of the British EU referendum

24 June 2016

The outcome of the British EU referendum will not affect RD-Connect in the near future. We will continue our work to support rare disease research.

|Read more…|

2016 BBMRI-LPC Whole Exome Sequencing Call

23 June 2016

The 2016 BBMRI – LPC Whole Exome Sequencing (WES) Call is offering a unique opportunity to genetically diagnose rare disease patients with samples deposited in Biobanks from the EuroBioBank network.

|Read more…|

RD-Connect three years on

23 May 2016

The three FP7 flagship omics projects – RD-Connect, NeurOmics and EURenOmics – are just over three years old. At the end of 2015, each project submitted their third year progress reports to the European Commission presenting significant achievements and progress towards an integrated platform for data sharing. Here we report highlights from RD-Connect.

|Read more…|

RD-Connect’s international charter of principles for sharing bio-specimens and data receives the International Rare Diseases Research Consortium (IRDiRC) Recommended label

29 September 2015

The International Charter of principles for sharin …

|Read more…|

Unraveling the genetic causes of hereditary ataxia and paraplegia using disease specific gene panels and next-generation sequencing

10 August 2015

The Institute of Medical Genetics and Applied Genomics in Tübingen has almost 8 years of experience in the field of next generation sequencing with a strong focus on diagnosing neurodegenerative diseases . For the identification of disease-causing mutations within the NeurOmics project, our aim is to examine 100 patients per disease group using a targeted gene panel approach based on Illumina NGS technology.

|Read more…|