Epicare Ern

Rare Diseases Models & Mechanisms – Europe (RDMM-Europe)
The European Rare Disease Models & Mechanisms Network (RDMM-Europe) has been established by Solve-RD – an EU-funded research project including 22 beneficiaries and >20 associated partners.
The overall aim is to boost research in rare diseases, discover new disease-causing genes and obtain evidence for pathogenicity through functional validation. The RDMM-Europe network will leverage the benefits from collaborations bet...ween model organism investigators and clinicians for rare disease patients.
http://solve-rd.eu/rdmm-europe/
See More

CPMS Platform for European Reference Networks (ERNs)
The Clinical Patient Management System platform aspires to accelerate diagnosis and treatment of rare diseases in the European framework
New article from Share4Rare

This month, ERN-ITHACA concentrates on collecting information on patients with Aicardi syndrome OMIM 304050 (triad of callosal agenesis, infantile spasms, and chorioretinal lacunae) for SOLVE-RD
If you have patients with this disorder, they could be offered sequencing through the study or any existing exome data can be reanalysed.
By having strength in numbers, the SOLVE-RD study hopes to get further with identifying any genetic basis to this disorder. ... Please email Michael, ERN-ITHACA Project Manager, if you have any suitable patients. Email: michael.smith@mft.nhs.uk
See More

The 2nd EpiCARE endorsed EEG course has finished today - EEG in the first year of life, from Newborn to Toddler at Clare College, Cambridge, 25-28 March 2019
48 international delegates attended from 26 different countries
Course directors:... Dr Ronit Pressler - UK Dr Monika Eisermann - France
Faculty: Ronit Pressler, UK Monika Eisermann, France Alexandre Datta, Switzerland Fabrice Wallois, France Stewart Boyd, UK Geraldine Boylan, Ireland Sushma Goyal, UK David Rowitch, UK - Keynote speaker Christian Korff, Switzerland Federico Vigevano, Italy Nicola Specchio, Italy Rachel Thornton, UK Marie Angeles Perez-Jimenez, Spain
See More

New publication..

On Wednesdays from 11am-1pm (European time) we run weekly CPMS drop in sessions via WebEx. Our Helpdesk colleague, Arun can help with account set-up, adding patients/panels or with any issues or problems around using the Clinical Patient Management System.
Contact us for WebEx details!
Clinical Patient Management System (CPMS) is an ... IT Platform for Clinical Consultations between ERN Members.
The CPMS aims at supporting ERNs in improving the diagnosis and treatment of rare or low prevalence complex diseases across national borders of Member States in Europe.
The CPMS is a secure Software as a Service (SaaS) that enables health professionals to enroll patients using comprehensive data models. Health professionals can use the CPMS to collaborate actively and share patient within and across ERNs.
See More

Purple Day for Epilepsy in Brno

On PURPLE DAY for EPILEPSY the Department of Neuroscience, The John Radcliffe Hospital, Oxford organised a large cake sale and pub quiz all in aid of SUDEP Action.

PURPLE DAY for EPILEPSY festivities at Alexandru Obregia Clinical Hospital, Bucharest 💜💜💜

The Epilepsy Centrum of St. Anne's University Hospital, Brno held a film screening yesterday to commemorate PURPLE DAY for EPILEPSY

On PURPLE DAY for EPILEPSY the Epilepsy Unit of Motol University Hospital organises a event "Jazzevec v zajetí ostrých vln" (Jazz singer captured by sharp waves).
A scientific lecture on epilepsy by Prof Pavel Kršek is arranged, which will be followed by a concert of Jazzevec (pop-jazz group).
Event: https://www.facebook.com/events/972003863 004875/

PURPLE DAY for EPILEPSY at Hospital Motol, Prague.

Purple Day for Epilepsy at Alexandru Obregia Clinical Hospital.

New publication..

7th Rare Diseases Summer School
Wednesday, July 10th to Friday, July 12th 2019 Kartause Ittingen, Warth (Canton Thurgau)
Application deadline: April 2nd, 2019
... The 7th radiz Rare Diseases Summer School will focus on a wide variety of subjects in the arena of rare diseases, from disease mechanisms and animal models, to improving diagnoses, to novel therapeutics.
The school addresses clinicians, physician-scientists, postdocs, and PhD students as well as select students from various disciplines such as medicine, biology, pharmaceutical science, psychology, sociology, and related fields. Up to 30 participants will be admitted. There are a limited number of spaces available to participants from industry. Participants are responsible for having valid insurance and a valid visa, if applicable, for Switzerland.
See More

The RARE-IMPACT initiative aims to identify and validate the challenges to patients’ access to gene and cell therapies through engagement with HTA agencies, regulatory bodies, payers, patient groups, clinicians, manufacturers and other experts across Europe.
https://rareimpact.eu/

Prof Helen Cross was invited to the UK Parliament's Health and Social Care Committee that discussed drugs policy, specifically the use of medicinal cannabis.
Prof Cross conducted the first clinical trial in the UK that looked at the use of cannabidiol to treat Lennox–Gastaut syndrome and Dravet syndrome.
Listen to her stance on the topic here: https://goo.gl/29qnHV
... Witnesses at the meeting: Professor Helen Cross, Head of Developmental Neurosciences, UCL GOS Institute of Child Health, Dr Imran Malik, Committee member, Royal College of Psychiatrists, and Professor Sanjay Sisodiya, Chair of the ABN Epilepsy Advisory Group, Association of British Neurologists
See More