Eurordis - Rare Disease Europe

Andrew Jack has been a journalist for the Financial Times since 1990. Since 2004, he has specialised in health and pharmaceuticals, based in London. He was the Financial Times’ Moscow correspondent and then bureau chief from 1998 to 2004, and previously served as Paris correspondent, financial correspondent, general reporter and corporate reporter. He was one of a group of journalists to be awarded the “1993 British Press Awards Reporting Team of the Year” accolade for coverage of the Robert Maxwell affair.

He is author, most recently, of Inside Putin’s Russia and The French Exception. Mr Jack has written articles for medical journals including the British Medical Journal and the Lancet. He has written specialist reports on the French insurance industry, audit committees, networking and work shadowing; as well as chapters in books on Russia, ethics, and financial reporting.

A geography graduate from St Catharine’s College, Cambridge, Mr Jack was the Joseph Hodges Choate Memorial Fellow at Harvard University, Cambridge, Massachusetts; a New York City Government Urban Fellow; and a trustee of Pushkin House, a London-based centre for Russian culture.

Mr Jack is being awarded the EURORDIS Media Award in recognition of his contribution to better the understanding of rare diseases and the issues surrounding these diseases through his articles written in the Financial Times during the past several years.

Since its inception in 1986, Celgene’s leadership in the research, discovery, development and marketing of treatments for rare cancers has significantly improved conditions for rare disease patients. Moreover, the Company’s steadfast and significant reinvestment in research and development place it in a position to make a life-changing difference for thousands more rare disease patients in the future. The Company’s commitment to innovation is reflected in the more than 200 clinical trials underway worldwide using compounds developed at Celgene.

Celgene has created Celgene Patient Support® to assist patients worldwide in accessing products the Company has marketed in their respective countries. This service provides patients and healthcare professionals with a dedicated, central point of contact to assist in navigating the challenges of reimbursement, providing information about co-pay assistance, and engages in local patient access and compassionate programmes.

Celgene has a longstanding, supportive relationship with EURORDIS and other patients organisations in Europe and internationally. Most notably, the company supported the pilot and growth of RareConnect: the Online Patients Communities Project, which enables people affected by rare diseases to form communities across languages and geographic barriers. Celgene is also a longstanding sponsor of EURORDIS Membership Meetings and contributes to the EURORDIS Round Table of Companies at the highest level, both in terms of membership level and quality participation.

Celgene is being presented with a EURORDIS Company Award in recognition of the Company’s steadfast commitment to generating treatments for rare diseases

Dr Ségolène Aymé is a medical geneticist and Emeritus Research Director at the French National Institute of Health and Medical Research (INSERM). She developed Orphanet, the world’s leading reference portal for expert validated rare disease and orphan drug information.

Orphanet, funded by the INSERM, the French Ministry of Health, the AFM Téléthon and the European Commission (DG Public Health and DG Research), is considered the most comprehensive, reliable, up-todate resource available for rare disease and orphan drug information. Available in six languages and with partners in 38 countries, Orphanet provides open-access data for 6,000 rare diseases – including clinical descriptions, related genes, research projects, patient organisations, medicinal products under development or approved, laboratory diagnostic services, centres of expertise, emergency guidelines, and more. Orphanet is an exemplary international collaboration.

Dr Ségolène Aymé also serves as Chair of the European Committee of Experts on Rare Diseases (EUCERD), heads the Scientific Secretariat of the International Rare Disease Research Consortium (IRDiRC), is Chair of the Topical Advisory Group for Rare Diseases, is responsible for revising the International Classification of Diseases at the World Health Organisation, and is Editor-in-Chief of the Orphanet Journal of Rare Diseases (www.ojrd.com).

Dr Ségolène Aymé has contributed to dozens of scientific articles, participated in numerous rare disease-related projects and committees, and plays a key role in bringing the scientific expertise in National and in EU-level policies designed to improve the situation for rare disease patients and those who care for them.

Her unflagging energy, intelligence and dedication are an inspiration for the rare disease community and make Dr Ségolène Aymé truly deserving of this EURORDIS Scientific Award.

Dr Ruxandra Draghia-Akli (MD, PhD) is Director of the Health Directorate at the Research & Innovation DG of the European Commission.

Dr Draghia-Akli received an MD from Carol Davilla Medical School and a PhD in human genetics from the Romanian Academy of Medical Sciences. She also completed a doctoral fellowship at the University of Rene Descartes in Paris and a post-doctoral training at Baylor College of Medicine (BCM), Houston, Texas, USA, where she was also part of the faculty.

She served as Vice-President of Research at VGX Pharmaceuticals (now Inovio) and VGX Animal Health. Her research activities have focused on molecular biology, gene therapy and vaccination. She is a global leader in the field of nucleic acid delivery for therapeutic and vaccination applications.

Dr Draghia-Akli has demonstrated her commitment to research in the field of rare diseases via the framework programme FP7 and her unique leadership when launching the International Rare Disease Research Consortium (IRDiRC).

The EU has taken the lead in creating an unprecedented international effort – IRDiRC – in April 2011, to foster international collaboration in rare disease research, a highly challenging area of medical research that has the potential to benefit tremendously from the recent advances in genomics, proteomics and other omics technologies.

IRDiRC now brings together the EU itself with France, Germany, Spain, UK, USA, Canada, Australia, leading pharma companies and pioneering biotechs, EURORDIS, NORD and more. The ambitious goal of this International Consortium is to develop 200 new therapies for rare diseases and the means to diagnose most rare diseases by the year 2020.

For her role in these initiatives and for her support of development of orphan medicinal products to treat rare diseases, Dr Ruxandra Draghia-Akli is the recipient of the EURORDIS European Rare Disease Leadership Award.

Ms Françoise Grossetête has been a Member of the European Parliament for almost 20 years.

With her leadership as MEP and Rapporteur on several legislations, two essential EU Regulations have been adopted on Orphan Medicinal Products in 1999 and the Regulation on Medicines for Paediatric Use in 2006.

Despite fierce opposition and often very sensitive political situations, her interventions in favour of the EU Regulations on Advanced Therapy Medicinal Products, and in the discussions around rare disease patients’ mobility within the negotiations on the Cross Border Healthcare Directive, have always been instrumental in achieving the best possible outcomes for rare diseases patients.

As a Member of the Committee on Environment, Public Health and Food Safety and as a Substitute of the Committee on Industry, Research and Energy, she has supported several amendments boosting research and securing Public Health projects in areas directly or indirectly making an impact on the rare disease field.

These major legislative steps, her unique dedication and her relentless commitment to addressing the needs of people living with rare diseases, have created a favorable environment for therapy development in Europe, and positively impacted the lives of rare disease patients and their families, thus making her the ideal recipient for the EURORDIS Policy Maker Award.

In 2004, Horst Köhler was elected Federal President of Germany (Mandate: 1 July 2004 – 31 May 2010). As First Lady and now Former First Lady of Germany, Eva Luise Köhler has campaigned for the interests of people with chronic rare diseases and has taken over the patronage of the German National Alliance for Chronic Rare Diseases: ACHSE. She is also the Chair of the Board of Trustees of the Eva Luise and Horst Köhler Foundation for people with rare diseases, created in March 2006.

Specifically, the Eva Luise and Horst Köhler Foundation supports research in the field of rare diseases. Its primary aim is to make sure that people with rare diseases receive an accurate diagnosis as early as possible so that they can be treated competently and effectively. The foundation provides funding for basic and clinical research and awards 50,000 euros to a research team on an annual basis on the occasion of the official Rare Disease Day.

“With the Foundation, we want to initiate and promote research projects improving the diagnosis, treatment, research and support programmes.”

Eva Luise Bohnet was born on 2 January 1947, in Ludwigsburg, Germany. After graduating in 1966, she studied German and History at the Pädagogische Hochschule in Ludwigsburg. In 1975, she took the second qualification examination for teaching at primary and secondary schools in Herrenberg. In 1969, she married Horst Köhler, a senior research fellow at the Tübingen Institute for applied economic research. Her daughter and son were born in 1973 and 1977 respectively. Between 1969 and 1977, Eva Luise Köhler worked as a teacher at a specialised school for children and young people with learning disabilities before taking a position as a primary school teacher in Bonn.

Ms Köhler’s daughter is affected by the rare disease Retinitis pigmentosa, a degenerative eye disease that causes severe vision impairment and often blindness. Ms Köhler’s daughter has become blind due to this disease.

The EURORDIS Lifetime Achievement Award is being presented to Mrs Köhler in recognition of her strong, lifelong dedication and commitment to addressing the needs of people living with a rare disease and for her contribution to the promotion of the rare disease cause in Germany. Mrs Köhler’s achievements in this field have inspired other First Ladies in various other European countries including Mrs Sandra Elisabeth Roelofs, First Lady of Georgia and Mrs May Panou Papoulia, First Lady of Greece.

Lesley Greene is a true pioneer of the rare disease movement in Europe. In 1980, upon the diagnosis of her first-born daughter at age 15 months, Lesley and her husband Peter Greene established the charity Research Trust for Metabolic Diseases in Children (RTMDC), dedicated to this group of disorders. RTMDC is now known as CLIMB (Children Living with Inherited Metabolic Diseases).

In 1995, Lesley was invited to join Abbey Myers (Founder of NORD) in Brussels, as a patient representative, to discuss the feasibility of developing an orphan drug legislation in Europe. After which RTMDC collaborated with other patient groups across Europe to support the adoption of the Regulation in 1999. Twelve years later, Lesley is still active with respect to the Orphan regulation via her role as patients’ representative on the Committee for Orphan Medicinal Products, where she has served since 2009, and in her current position as Vice-Chair of the Committee since 2012. Lesley was elected as a Founder Director of EURORDIS in 1997 and from 2001 to 2003 she was EURORDIS President.

Her experience as a mother of a daughter affected by a rare metabolic disease and her background as a teacher have enabled her to speak at many conferences for patients, regulators and industry, and to serve on many committees over the past 30 years. Her commitment to the rare disease movement has never faltered and she is truly deserving of this EURORDIS Volunteer Award.

The French Muscular Dystrophy Association (AFM) federates patients with neuromuscular diseases and their parents. Thanks in great part to donations from France’s annual Telethon (€90 million in 2010), the AFM has become a major player in biomedical research into rare diseases in France and worldwide. It is currently funding 36 clinical trials on 31 different genetic diseases affecting the eyes, blood, brain, immune system and muscles, to name but a few.

The French Muscular Dystrophy Association has boosted many research projects and, thanks to previous Telethons, has also created its own research tools, alone or in partnership with public institutions.

Today, the AFM relies on 4 “laboratories of excellence“ which are leaders in their fields: Généthon and the Atlantic Institute of gene therapy for gene therapy; I-Stem Institute for stem cells; the Institute of Myology for the research and the treatment of muscular diseases. To move faster towards therapeutic successes, the AFM strengthens the coordination, the complementarity and the interactions between these laboratories by gathering them under one common banner: the Institute of Biotherapies. With the Généthon bio-production centre, the AFM stands out through its unique ability to produce and test its own gene-based medicines.

The Sigma-Tau Group was founded by Dr. Claudio Cavazza in 1957 and the United States operations, Sigma-Tau Pharmaceuticals, was created in 1980 and became an early leader in developing medicines for rare diseases. By 1984 it was one of the first companies to receive an Orphan Drug Designation in the United States.

Sigma-Tau now provides seven innovative medicines for patients with rare diseases and has several more in late stage development. Sadly, Dr. Cavazza passed away last year but his passion to improve patient health lives on in the company’s development and commercialisation strategies. Sigma-Tau is a founding member of the National Organization for Rare Disorders (NORD) Corporate Council. Sigma-Tau also supports EURORDIS and its key projects, including the publication of The Voice of 12,000 Patients and the Rhapsody and POLKA projects. Sigma-Tau is a Ruby member of the EURORDIS Round Table of Companies.

CSL Behring has a more than 90-year heritage of innovation, achievement and commitment to address diseases that are rare.

Today, with one of the broadest product portfolios for rare diseases, CSL Behring has received approvals for 15 rare disease products in the last seven years. In particular in 2011, European authorities approved a treatment of Hereditary Angioedema, and the European Commission granted marketing authorisation – valid for all Member States – for CSL Behring’s treatment of primary immunodeficiency diseases and secondary immunodeficiencies. CSL Behring has a strong record of positive collaboration with patient organisations, including EURORDIS, where they are a long-standing Emerald member of the EURORDIS Round Table of Companies and contributor of grant funding for projects such as the European Patient’s Preferred Rare Diseases Policy Scenarios Project-POLKA.

Shire established a Human Genetics Therapies (HGT) unit two decades ago to develop novel products for patients diagnosed with Rare Diseases. Since then, the Company has developed treatments for several rare conditions such as Hunter Syndrome and Gaucher Disease and put products on the market in more than 50 countries around the globe.

Most recently, Shire concluded the trials and regulatory submission for approval of a treatment for Hereditary Angioedema. Shire has shown steadfast support for Rare Disease patient organisations, is an Emerald Member of the EURORDIS Round Table of Companies and contributor of grant funding for projects and events such as the EURORDIS Membership Meetings.

The BBC has been covering rare diseases and helping to raise awareness about the challenges faced by rare disease patients for over 3 decades. Indeed, the BBC’s Songs of Praise in 1982 helped EURORDIS Past President, Lesley Greene, to find other ‘orphan parents’ and specialists for her daughter’s rare metabolic disease and subsequently establish a patient group. The BBC also commissioned a programme called Diagnosis in 2011 featuring several rare diseases.

In addition, and on many occasions, a rare disease is featured on the popular medical dramas Casualty and Holby City. Indeed, Rosie Marcel who plays “nasty Jak” in Holby City recently revealed she has Behçets Syndrome. Furthermore, through its grants programme, BBC Children In Need regularly supports many projects linked to rare diseases which would otherwise struggle to obtain funding. The visibility of such broadcasts and the BBC Children In Need appeal provide huge publicity, support and networking opportunities which are invaluable to a community which struggles because of its “unpopular” image.

Over the years, the work of the BBC has put a face to rare diseases and highlighted important issues for people living with rare diseases, such as delayed or inaccurate diagnosis, difficulty accessing care, financial burden and tremendous feeling of isolation.