Anton Ussi MSc is Operations & Finance Director at EATRIS ERIC, the European infrastructure for translational medicine. Joining EATRIS in 2010, he was co-responsible for the operational design and statutory incorporation of the infrastructure and has been in his current role as executive director since 2015. Ussi has a background in mechanical engineering in the automotive industry, small business administration, and more recently in technology transfer focused on molecular imaging. He specialises in public-private and public-public collaboration and deployment of infrastructure for translational research in medicine. Ussi is currently Vice Chair of the ERIC Forum, a membership organisation comprising large European Research Infrastructures covering all scientific domains.

Joanna joined LifeArc in January 2022 after 7 years in the UCL Translational Research Office. She has a wide range of experience in translation, having worked in big pharma and consulting before becoming a Programme Manager in the Translation team at MRC in 2008, with responsibility for delivering the Developmental Pathway Funding Scheme. Joanna is currently responsible for developing a joint LifeArc/ MRC online toolkit to aid researchers and charities in repurposing medicines in the UK.

Professor Lakshminarayan Ranganath is a busy full-time consultant at the Royal Liverpool University Hospital in the UK. There was no National Health Service or treatment available for rare disease Alkaptonuria in the UK when he developed an interest. To address these issues, he established an NHS Highly Specialised Services funded National Alkaptonuria Centre (NAC), of which he is the inaugural Director. Patients in the NAC are able to access off-label nitisinone free of charge and access a multidisciplinary team of experts. LRR has carried out a national survey that identified 81 UK, 450 European and 1000 patients worldwide. He has pioneered an assessment of AKU patients. LRR is also co-ordinating DevelopAKUre, a European Union-funded international research programme, which involves 3 studies in AKU. This will bring advances in AKU to all patients with AKU worldwide.

Álvaro Acosta Serrano obtained a Doctor in Science degree in Molecular Parasitology from the Federal University of São Paulo. He was a Post-doctoral Fellow at Johns Hopkins School of Medicine, and then a Wellcome Trust Research Fellow at the University of Dundee and University of Glasgow. In 2008 he joined the Liverpool School of Tropical Medicine, where he is currently Reader in the Departments of Parasitology and Vector Biology.

Ravindhi will be introducing the DETERMINE trial. Cancer Research UK and the University of Manchester will be leading a consortium of multiple academic and pharma partners to run DETERMINE; the first UK national precision medicine trial for adults, young adults and children with rare cancers. The DETERMINE trial aims to find out whether existing approved cancer drugs that target key genetic changes in cancer cells could also benefit patients with rare cancer types that the drug isn’t currently licensed for. DETERMINE’s unique design means that any treatment shown to benefit patients on the trial could be fast-tracked towards approval on the NHS, creating a ‘roadmap’ to help establish new treatment options for patients with some types of rare cancer.

Rick joined Beacon (previously known as Findacure) as the charity’s third member of staff and first-ever Scientific Officer. His aim was to drive forward the charity’s work in drug repurposing. Rick became CEO in 2017 and has since been involved in almost all of our projects. He drives the organisation’s growth and strategy. Before Beacon, Rick secured a PhD in Evolutionary biology and studied moles in Cambridge’s Museum of Zoology. He has written articles, given talks and provided training across the European rare disease community. He is continually amazed by the work, knowledge and commitment of our patient group leaders.

Caroline Miklaszewski is a Project Director for the Pierre Fabre Group. She is a Pharmacist by training and has extensive experience working in Clinical Trials and Global project development. Caroline has been working in development of therapies for Rare Diseases for more than 14 years and leads the XLHED project for the Pierre Fabre group since Pierre Fabre paired up with EspeRare in 2020. Her mission for this project is to make sure that all its dimensions and perspectives are taken into consideration in a coordinated manner to ensure this drug development’s success.  

As Founder and CEO of the Ectodermal Dysplasia Society Diana has worked on a full-time voluntary basis since 1996. She is married to Ian and has 5 children, two of whom are affected by Ectodermal Dysplasia. 

She has gained considerable experience of Ectodermal Dysplasia (ED) over the years and having two affected children has provided her with first-hand experience, helping to provide empathy, compassion and the personal touch.

Diana is driven by her passion to help the ED community cope with their daily struggles. She fights to ensure individuals and families have all the information they need to receive benefits they are entitled to and a duty of care in school/the workplace. She oversees everything the Society does including research and any international collaboration.  She’s the energetic force in the ED Community leading with her heart in all that she does.

Jin is a Research Fellow from the University of Sheffield. She is working on a Wellcome Trust funded Project called: ‘Orphan drugs: high prices, access to medicines, and the transformation of biopharmaceutical innovation’.

She has developed research interests around orphan drugs following her PhD at the University of Edinburgh where she studies the dynamics and evolution of the pharmaceutical industry in the area of orphan drugs. Jin’s more recent research provides a comprehensive picture of the market growth and the accessibility of orphan drugs across the EU, USA and UK. She also has interests in AI-powered drug repurposing for rare diseases, and 3D printed pharmaceuticals for personalised medicines.

Jin’s work has been published in many academic journals and newspapers. She also contributed to the Parliamentary Office of Science and Technology (POST) Policy Brief for the UK Government and Oslo Medicines Initiative Technical report for WHO (World Health Organization).

Amir is a UK registered Pharmacist; Manager of Lloyds Pharmacy in Richmond, London. He is also Chief Operations Officer of Crowd Funded Cures, where he is working on a solution to a pharmaceutical problem that has the potential to help and improve the health and life of a billion people. Amir is also a technical writer in health and science, and helps venture capitalists and investors with technical due diligence in the fields of biotech, pharmaceutics, medicine, and the intersection where technology meets with health biology and the integration and procurement of care. 

Femida is a pharmacist, clinical epidemiologist, and methodologist with over 25 years of experience in clinical trials, patient registries, knowledge translation, health analytics, and clinical disease outcomes. It was the challenges she witnessed in academia & research that encouraged her to start PulseInfoframe. With a focus on oncology and rare diseases for the last 10 years, Femida and her colleagues took a collaborative approach to research, building networks of stakeholders from patient groups, sponsors, and researchers to solve the mysteries around drug development in a way that focused on evidence generation. Pulse Infoframe’s evidence generation platformhealthie™ 2.0, is a scalable, centralized solution where registries are linked by commonalities across shared data elements. Recently recognized as a fellow of CIHR for her contributions to global research with impact. Femida has published over 200 manuscripts and abstracts in top-tier journals and continues to support research to improve the lives of patients.