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August 2014

The latest news from DEBRA International

August 2014

Clinical and research news

A positive start to Stanford gene transfer study

Facade of the memorial Church on Stanford University campus
The campus at Stanford University

Following many years of painstaking preparation, Prof. Alfred Lane and a strong team of researchers in Stanford University, California, have begun a clinical trial to test the effectiveness of a potential therapy for RDEB.

This approach involves taking samples of the patient's own keratinocyte (skin) cells and using specially adapted viruses, to carry full copies of the collagen 7 gene into the cells, in the lab. The cells are then grown into sheets of epidermis (skin) and grafted back onto wounds on the patient's body. Read more

Junctional EB gene therapy approach, given new life in Salzburg

Table in a surgery setting, with 5 skin sheets in plastic boxes
Skin sheets, each measuring 5x7 cm

A patient with Laminin deficiency was recently grafted with gene-corrected skin sheets at the EB House in Salzburg, Austria, a special clinic for people living with EB.

In a study following on from the first EB gene therapy clinical trial, undertaken in a single patient in Italy in 2006, another JEB patient was recently treated with a so-called ex-vivo gene therapy. The approach is scientifically similar to the Stanford approach described above and is the result of a long-term collaboration between the EB House in Salzburg, Austria and the Centre of Regenerative Medicine in Modena, Italy. The teams are led by Prof. Johann Bauer in Salzburg and Prof. Michele De Luca in Modena. Read more

Research funding update

Cover of DEBRA International research grant application form

The recent DEBRA International funding call for EB research proposals saw an extraordinary number of outstanding applications. The Medical and Scientific Advisory Panel (MSAP) convened in London on 16th of June, and after discussing the 18 research proposals, and peer-review reports on the proposals, recommended that DEBRA fund 5 projects.

The next DEBRA International research-funding call is already open, with the deadline of 15th September for submission of research proposals. MSAP will next meet to consider proposals received, together with peer-review reports, on 1st December, in Vienna.

Events

Paris, here we come!

View of CAP 15 business center, a modern building on the banks of the Seine
CAP 15 business center, next to the Seine

It's almost time for the DEBRA International Congress in Paris which will be held on the 19th to 21st of September. Every year, this meeting proves itself to be of incredible value in linking and sharing with others working to improve life with EB. The agenda this year has been carefully thought out and has a strong focus on informing participants about the latest advances in care and research. Yet again, we are being spoiled by a wonderful location and the conference venue is within sight of the Eiffel Tower. For more information, see the excellent website prepared by the organisers:

If you have already registered, we look forward to seeing you there and if you haven't, it is not too late – come join us!

Plans for EB awareness week

International EB Awareness Week poster, showing children's portraits from various countries and the claim "Plight of the butterflies"
EB Awareness week poster

Delegates attending this year's DEBRA International Congress will have the chance to attend a fundraising and communication side-meeting on Saturday afternoon (September 20th). On the agenda will be this year's EB awareness week and how each DEBRA organisation can use this week to focus media and public awareness on EB, to increase the profile of their work and to raise more funding.

EB awareness week takes place during the last week of October. Some resources and information are already available on the DEBRA International website, while some will be updated shortly.

A spotlight on rare diseases for three days in Berlin

Conference room, Powerpoint presentation and John Dart as a speaker on the podium
EURORDIS General Assembly opened by DEBRA International COO, John Dart

The EURORDIS membership meeting and the European Conference on Rare Diseases (ECRD) were held back-to-back in Berlin, from May 7-10, and EB was well represented.

The EURORDIS meeting brought together rare disease patient representatives from across Europe to share and learn. Most of them stayed on for ECRD, for which they were joined by academics, health care professionals, industry representatives, payers, regulators and policy makers. Read more

DEBRA around the world

Meet our new staff!

Portrait of Lea Prujean, a lady around 40, with long brown hair, and wearing glasses
Lea Prujean, EB Without Borders Coordinator

Valuable EB without Borders project strengthened by new appointment

The new International Coordinator, Lea Prujean, will now support the work undertaken by the Regional Ambassadors of DEBRA International's EB Without Borders (EBWB) initiative.

"I am very pleased to have begun in the role of EBWB International Coordinator and I look forward to working with you. I hope to meet many of you at the DEBRA International Congress in September. I have been working part time with DEBRA New Zealand for nearly three years and am an ardent supporter of all things DEBRA does. I hope that I will be able to support and assist the vital work undertaken by the EBWB Regional Ambassadors." Read more

Portrait of Mark Varian, an about 50-year-old man in a park (green in the background)
Mark Varian, Marketing and Communications Director

Director of Marketing and Communications appointed

The new staff member, Mark Varian, brings with him a wealth of experience gained in both the public and private sectors and is looking forward to using his skills to benefit people living with EB.

"I am delighted to join DEBRA International to help raise the profile of a condition that many people have never heard of. I have worked in a number of marketing and communication roles, most recently for the Hospital Corporation of America (HCA) promoting their six hospitals in London." Read more

A focus on the Centre for Human Genetics, Bangalore, India

Composite of 6 images. (1) Family with a child with EB sitting on the woman's lap; (2) male EB patient getting a dental treatment; (3) Wounded face of a baby girl with EB; (4) Fingers with blisters and wounds; (5) Hand and lower arm of an EB patient; (6) People in a meeting room

Inherited Epidermolysis bullosa (EB) is common in several parts of India. However the exact incidence and prevalence is largely unknown because of underreporting. In this part of the country, consanguineous marriages are very common and hence the recessive forms of EB are more often seen.

Dr Ravi Hiremagalore reports his experience of establishing a multi-disciplinary clinic and services available for the care of EB patients in Bangalore, India.

Read more

A personal milestone reached, for DEBRA Ireland Patient Ambassador

30-year old blond woman, smiling out of her car and presenting her driving licence

"Although this year didn’t start out great for me (I was quite sick and had to spend quite a lot of time in hospital), fortunately the second half is looking much better.

I celebrated my 30th birthday at the Kerry Challenge in June and a few weeks later I passed my driving test."

Two anniversaries – one mission

2 images; left: Arabella von Gelmini-Kreutzhof (ambassador of DEBRA South Tyrol), holding a butterfly statuette, and Isolde Mayr faccin, president of DEBRA South Tyrol, presenting a document // right: close-up of  butterfly trophies from DEBRA CR

On the weekend of April 4 - 6, in Toblach (Dobbiaco), a small town in the autonomous region Trentino - South Tyrol, Italy, and in Brno, the second largest city in the Czech Republic, two DEBRAs celebrated 10 years of existence, during which time they have achieved a lot for their people with EB.

Read more 

If you have any comments on the content of the newsletter or views on us developing a new clinical update newsletter for patients, donors and members please contact us at office@debra-international.org.

DEBRA International is the umbrella organisation for a worldwide network of national groups, working on behalf of those affected by the rare genetic skin blistering condition epidermolysis bullosa (EB).

DEBRA International Executive Committee 2015/2016
Cinzia Pilo (Italy) – President; Loreto Moore (Chile) – Deputy President; Shoaib Gopalani (Canada) – Treasurer; Brett Kopelan (USA) – Deputy Treasurer; Jimmy Fearon (Ireland) – Secretary; Anna Kemble-Welch – Deputy Secretary; Mia Werkentoft (Sweden); Michael Jaega (UK); Vassil Nikolov (Bulgaria)

Internal Auditors
Graham Marsden (UK); Rainer Riedl (Austria)

Staff
Michael Fitzpatrick (Australia) – CEO; Lea Prujean (New Zealand) – International Coordinator/ EB Without Borders; Clare Robinson (seconded by DEBRA Austria) – Head of Research; Avril Kennan (seconded by DEBRA Ireland) – Project Manager/ Clinical Practice Guidelines; Barbara Dissauer (seconded by DEBRA Austria) – Communications and Research Manager; Hayley Epps (seconded by DEBRA UK) – Communications Manager; John Dart (voluntary) – Senior Advisor to the Executive Committee

DEBRA International is a registered charity: ZVR 932762489

Contact: Am Heumarkt 27/1 | 1030 Vienna | Austria | Tel: +43 (0)1 876 40 30
e-mail: office@DEBRA-international.org | www.debra-international.org
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