With this material, we invite you to explore the world of Genethon, a leading laboratory in designing gene therapies for rare diseases. EHC staff attended a three day training there to learn about the concepts behind this novel therapy and how it works. In part II of the video, we talk to Elena Barbon, a PostDoc researcher at Genethon, about the recent advances and challenges of gene therapy for haemophilia and Von Willebrand Disease.
Jim is aged 66 and has Haemophilia A with a high titer inhibitor which he developed at age 14.
He was born in Ireland, educated and worked there until 1984 when he relocated to the UK. Jim continued his career in the UK until he retired in 2015 and returned to live in Ireland.
Jim has been married to Monica since 1983 and they have two sons and three grandchildren.
Jim’s career was in Finance, and he worked for 20 years as European financial Controller for a US multinational involved in liquid and gas analysis techniques. Before he retired in 2015, he managed a Chartered Accountancy practice with 2 offices and 70 employees.
In 2016 Jim joined the board of the Irish Haemophilia Society, trying to give something back for all the support they have offered for so many years. For 6 years Jim as involved in the Inhibitor Working Group of the EHC and has been rewarded by seeing the platform the group built and the community that was created!
He is now very happy total up the role of the advisor to the newly formed ERIN committee which will use the existing platform to hopefully build an inclusive community for all rare bleeding disorders while continuing the unfinished work for the inhibitor community, especially Haemophilia B inhibitors. He also wants to advocate for better planning and support for persons ageing with a bleeding disorder. This is a new situation thanks to better treatments, but the community is not yet ready to deal with it.
Maria Elisa Mancuso (MD, PhD) is a Haematologist and works as a Senior Haematology Consultant at the Center for Thrombosis and Haemorrhagic Diseases of IRCCS Humanitas Research Hospital in Rozzano, Milan, Italy. She is Adjunct Clinical Professor at Humanitas University. She obtained a post-degree in Clinical and Experimental Haematology and a PhD in Clinical Methodology. She is involved in clinical research and has published several original articles in peer-reviewed journals a The Lancet, Blood, Journal of Thrombosis and Haemostasis, Haematologica, Thrombosis and Haemostasis, British Journal of Haematology and Haemophilia. She is reviewer for several peer-reviewed journals and member of the Editorial Board of JTH. She is a member of several scientific societies (ISTH, WFH, ASH, EAHAD, SISET, AICE) and was a medical member of the Inhibitor Working Group of the European Hemophilia Consortium. She is co-chair of the ADVANCE Study Group. She has acted also as co-chair of the Scientific and Standardization Subcommittee of ISTH on FVIII, FIX and rare bleeding disorders. She has been involved as principal and co-investigator in several clinical trials, and she takes care of both children and adults with hemophilia and other congenital bleeding disorders with a specific scientific interest in novel therapies, prophylaxis, inhibitors, and chronic hepatitis C.
As a patient with factor II deficiency, the diagnostic and treatment of rare bleeding disorders is a matter dear to my heart. My motivation to participate in the work of the ERIN committee is to improve both diagnostic and treatment for patients with rare bleeding disorders across Europe.
Besides the ERIN work, I am a medical doctor currently working on a Ph.D. thesis in the field of multidrug resistant organisms and the faecal microbiome
Economist and financial expert by profession, executive coach and trainer by passion and haemophilia advocate by every drop of my blood through my son (who has severe haemophilia A with inhibitors). Bringing a good decade of practical experience from the corporate insurance world, laser focus, growth mindset and resilience from my own experience, offering you anything I can just do, in hope that together we can make life more fulfilled for those impacted by bleeding disorders.
When not being with my family or working in front of three way too big monitors, you’ll find me sipping a good cup of coffee (ok, or four), reading books mainly in the field of mental health or working out.
Amy Owen-Wyard is a Registered Mental Health Nurse. With experience working with children, young people, their families and adults with severe and enduring mental health conditions. Amy was also involved in a service improvement to provide a holistic care approach for those in general hospitals to support both their mental and physical health, whilst sharing her expertise and knowledge in mental health with the wider multidisciplinary team.
Amy’s two-year old son Logan was diagnosed with Glanzmann Thrombasthenia at 7 weeks old and since diagnosis Amy has become a passionate advocate for rare bleeding disorders. After Amy and her partner attended a Newly Diagnosed Weekend in Manchester, UK, she decided to stand for election as a trustee for the UK Haemophilia Society and joined the Board in November 2021.
As a parent of a child with GT Amy brings new outlook to the UK board, previously dominated by those with lived experience of haemophilia. She is passionate about supporting not just her son but the wider rare bleeding disorder community. As a mental health professional working in the National Health Service Amy also understands the workings of the healthcare sector and the huge importance of psychological support.
Working beyond the UK to support the rare disorders community Amy is on the steering committee for Haemnet’s Glanzmann’s 360 study.
 | Declan |
| Fiona joined EHC in 2017 and is currently one of the Community Programmes Officers, with her work focusing on youth related activities including training and workshops and the Youth Fellowship Programme. Fiona previously worked for the Irish Haemophilia Society for eight years. Fiona has a degree and Masters in Psychology from Trinity College Dublin and is currently completing her PhD in Psychotraumatology. |
 | Saskia Pfeyffer joined the EHC in 2016 as the Office Assistant and deals with administrative and accounting tasks as well as supporting the smooth running of the office and its activities. Prior to this, Saskia has worked for more than ten years in the field of women’s health and rights. She worked for the European Parliamentary Forum on Population and Development (EPF) and for Care international. Saskia is Dutch and speaks English, French and Dutch and has a bachelor degree in European studies from the University of The Hague, the Netherlands. |
 | Charles brings a wealth of experience from various agencies and organisations such as the University of Washington, the United Nations, the Dutch government/EU, Georgetown University and the US State Department - international assignments in the Netherlands, Bulgaria, the Czech Republic, Norway, Greece, Greenland, Denmark, Japan, Macedonia, the Republic of Georgia and Bosnia and Herzegovina; Masters, Project Management Certification. Charles speaks several languages including English (mother tongue), Norwegian, some Klingon and broken Elvish. |
 | Ms. Jana Žitňanská is a Member of the European Parliament (MEP) and part of the European Conservatives and Reformists Group (ECR). She is the Vice-Chair of the Committee on Women’s Rights and Gender Equality and a Member of the Committee on Employment and Social Affairs. Her political career started in 2010 as a Member of the National Council of the Slovak Republic and was followed by being a Non-Attached Member of the National Council from 2012 until 2014. Ms. Žitňanská is a trained journalist and has a longstanding experience as an editor and news presenter in TV and radio before being the Head of Foreign News of TV Markiza from 2007 until 2009. In the European Parliament, Ms. Žitňanská is the rapporteur for the European Parliament Own-Initiative report on Pathways for the reintegration of workers recovering from injury and illness into quality employment and shadow-rapporteur on the proposal for a Directive on the Work-Life Balance for Parents and Carers. She joined the European Parliament Rare Bleeding Disorders Group in 2018. |
 | Paul Rübig is an Austrian politician and Member of the European Parliament (MEP) from Austria. He is a member of the Austrian People's Party, part of the European People's Party. In 1991, Rübig was selected as a candidate for the Austrian People's Party for the regional elections in Upper Austria. After having been elected, he instantly became Chairman of the then so-called EU Integration Committee. By facilitating the accession of Austria to the European Union in this period, he quickly gained significant expertise in EU related matters. After a very short period as MP, he became a Member of the European Parliament in 1996, at this time by decision of the Austrian Parliament. Since then, he has been re-elected four times, namely in 1996, 1999, 2004 and 2009. |
 | Norica Nicolai is the vice-chair of the ALDE Group in the European Parliament and one of the strongest liberal voices in Romania. She has been a member of the European Parliament since 2009 and has been active in, among else, the Foreign Affairs Committee, the Committee for Security and Defense, Women’s Rights and Gender Equality Committee. In addition, at the start of her second mandate in 2014, she became a member of the Fisheries Committee in the European Parliament. She also decided to use her notoriety and energy to get involved in social causes, such as access to treatment and information for people with rare diseases. She became a promoter of more campaigns regarding the problems of infertility among European citizens and has been lobbying for their rights. Mrs Nicolai started her political career as deputy-minister in the Ministry of Labour in Romania back in 1995 and she was in charge of, among other things, the domain of gender equality. In addition, from this position, she actively implemented the acquis communautaire in Romania, creating and implementing many laws regarding issues of women’s rights. She was also a member of the Romanian Senate from 2000 to 2008, where she was part of the Judicial Committee and the Defense Committee, and held the position of Vice-president of the Senate for the duration of one year. Lastly, Mrs. Nicolai holds a degree from the School of Law of the University in Bucharest. |
 | Dr Miroslav Mikolášik has been a Member of the European Parliament since 2004. He is Member of the Committee on the Environment, Public Health and Food Safety. Dr Mikolášik is a very strong supporter of the European Haemophilia Consortium, participating in several EHC Round Tables in the past (e.g. Round Table on Rare Bleeding Disorders and Orphan Drugs, 2014; World Haemophilia Day, 2016). Dr. Mikolášik’s work in the European Parliament revolves around access to life-saving medicines in Europe and paediatric medicines. |
 | Nessa Childers was elected to represent the Blackrock area on Dún Laoghaire / Rathdown County Council as a Green party councilor in 2004. During that time, she served as part of the Dublin Regional Authority. She resigned her council seat in August 2008 and joined the Labour Party. In the following year, she was elected as a Member of the European Parliament for the Ireland East Constituency. She resigned from the party in 2013. In 2014 Nessa Childers was re-elected as an independent MEP and joined the Group of the Progressive Alliance of Socialists and Democrats as a non-party member. |
 | Dr. Cristian-Silviu Bușoi is a Romanian physician and Member of the European Parliament, part of the European People’s Party. He is also currently a member of the Committee on Environment, Public Health & Food Safety Committee (ENVI). Highly involved in health care topics, Dr. Buşoi has been a strong supporter of the European Haemophilia Consortium (EHC), co-chairing various EHC Round Tables. He is also the co-chair of the informal interest group in the European Parliament on Patient Access to Healthcare and the Friends of the Liver Group. |
 | Heinz K. Becker has been a member of the European Parliament since 2011 in representation of the Austrian party Österreichische Volkspartei. He is member of the Civil liberties, justice and home affairs Committee, the “Petitions” committee, as well as vice member of the “Employment and social affairs” committee. MEP Becker is also co-chair of the Parliamentary 'Intergroup on Ageing and Intergenerational Solidarity' and Vice President of the Parliamentary 'Interest Group on Carers.' He is Vice President of the European Seniors’ Union (ESU), member of the disability intergroup of the European Parliament and member of the European Alzheimer's Alliance. Before becoming an MEP, Heinz K. Becker worked for various international advertising agencies. |
