Olivier Morand is currently the Senior Director, Rare Disease Therapeutic Area at Idorsia Pharmaceuticals. He was previously the Senior Director, Clinical Science Program Head, at Actelion Pharmaceuticals Ltd, Allschwil, Switzerland, where his focus was on new therapies for rare metabolic diseases. While at Actelion he was also leading the Life Cycle team that successfully ran the Zavesca® program for type 1 Gaucher disease and Niemann-Pick type C disease. Previously, he held research positions in Drug Discovery at Roche in Basel, Switzerland and at Merck & Co. in Rahway, NJ (USA). He developed his know-how in several academic institutions such as the University of Wisconsin, Madison, the Hadassah School of Medicine, Jerusalem, and the Mount Sinai School of Medicine, New York. He holds two PhDs in Biochemistry and Nutrition (University of Paris).

Olivier Morand is currently the Senior Director, Rare Disease Therapeutic Area at Idorsia Pharmaceuticals. He was previously the Senior Director, Clinical Science Program Head, at Actelion Pharmaceuticals Ltd, Allschwil, Switzerland, where his focus was on new therapies for rare metabolic diseases. While at Actelion he was also leading the Life Cycle team that successfully ran the Zavesca® program for type 1 Gaucher disease and Niemann-Pick type C disease. Previously, he held research positions in Drug Discovery at Roche in Basel, Switzerland and at Merck & Co. in Rahway, NJ (USA). He developed his know-how in several academic institutions such as the University of Wisconsin, Madison, the Hadassah School of Medicine, Jerusalem, and the Mount Sinai School of Medicine, New York. He holds two PhDs in Biochemistry and Nutrition (University of Paris).

Dr MacLennan has worked on Rare and Orphan Diseases throughout a 30-year career spanning academia, pharma, biotech and CROs.

With Dr Davy Yeung, he is co-founder of Tailored Clinical Research Solutions (www.tcr-solutions.com). Their objective was to build a new kind of CRO that places patients, and the hospital sites that treat them, at the very heart of the clinical trial process.

The TCRS approach is proving highly effective in Rare and Orphan Indications where the relationship between Patient, Investigative Site, CRO and Sponsor is especially critical.
 

Dr MacLennan’s presentation will offer further insight into achieving successful patient recruitment and quality project delivery in these challenging diseases.
 

Dr Richard Pye joined Summit in 2004 as a Senior Scientist and was involved in the formative development of the Company including being involved in the discovery of ezutromid for the treatment of Duchenne muscular dystrophy. He subsequently moved into the corporate side of the business and currently has responsibility for corporate affairs, communications and investor relations. He has a broad range of experiences and skills having been involved in a various corporate development activities including raising equity financing from the capital markets and securing funding from not-for-profit organisations and Summit’s initial public offering on NASDAQ that completed in 2015. Richard holds a PhD in Organic Chemistry and prior to joining Summit was a Post-Doctoral Research Associate at The University of Oxford.

Kay Parkinson was the mother of two children who were diagnosed with the ultra rare disease Alström Syndrome when they were aged 18 & 15, having had four previous mis-diagnosis. Both children died following heart and heart/kidney transplantations aged 25 and 29 respectively. They received little support or understanding of their rare condition.
Kay qualified as a lawyer in 1996 as a mature student, specialising in charity law. In 1998 she founded the charity Alström Syndrome UK (ASUK). Kay served as their founder/ CEO for 15 years. In 2007 she fought the DOH to gain funding from the NHS Highly Specialised Services for the charity, she held the only UK database on affected families which she had collected since 1998. Kay stepped down in 2013 after ASUK was awarded EURORDIS Patient Organisation of the Year, to start up Alström Europe (AS EU) charity, where she still serves as a Director. In 2015 Kay joined the steering group of Cambridge Rare Disease Network as she believes all rare diseases need to work together for better diagnosis, treatments, services and a much needed higher public profile.
From September 2015 Kay has formally set up and structured Cambridge Rare Disease Network (CRDN) as their CEO. She is enjoying the challenge of working with a novel multi-stakeholder organisation and hopes to form closer links between the Cambridge “Cluster”, the largest biotech’s in Europe, the Cambridge University and people affected by rare diseases. Kay was awarded the “Champion of Hope” award 2017 by Genetic Disorders UK for the setting up of Alstrom Syndrome Europe.

Dr Richard Harbottle undertook his PhD and post-doctoral training in a Gene Therapy lab at Imperial College London where he worked on developing non-viral methods for introducing DNA into cells. He is currently the Research Group Leader of the DNA Vector Laboratory at the German Cancer Research Centre (DKFZ) in Heidelberg. His lab is now focused on the generation and application of novel, next-generation DNA vectors for gene therapy and for the safe and persistent genetic modification of cells. These DNA vectors provide therapeutic transgene expression without the use of potentially toxic viral components or the risk of insertional mutagenesis.

Dr. Kishimoto is the Chief Scientific Officer of Selecta Biosciences, a biotechnology company developing synthetic vaccines based on a novel self-assembling nanoparticle technology. Prior to joining Selecta, Dr. Kishimoto was Vice President of Research at Momenta Pharmaceuticals where he led multidisciplinary teams in inflammation, oncology, and cardiovascular disease. Previously he was Senior Director of Inflammation Research at Millennium Pharmaceuticals, where he provided the scientific leadership for four programs in clinical development, and an Associate Director of Immunology at Boehringer Ingelheim. Dr. Kishimoto received his doctoral degree in Immunology from Harvard University and his post-doctoral training at Stanford University.

Stuart Hughes is Director and Head of Pharmacology at Vertex Pharmaceuticals Europe Ltd. Following the award of a PhD in Cellular and Molecular Neuroscience from Cardiff University in 1999 he spent several years as a postdoctoral scientist studying the mechanisms that underlie a host of physiological and pathological brain rhythms. In 2006 he was awarded a Wellcome Research Fellowship to continue this work and made important contributions to the understanding of the cellular events that lead to the slow waves of deep sleep as well as the neural mechanisms that shape the so-called alpha rhythm of relaxed wakefulness. In 2008, he took up a position as a group leader in CNS research at Eli Lilly and Company, pursuing a range of ion channel targets for treating a variety of neurological and psychiatric disorders. In 2013, he moved to Vertex Pharmaceuticals to lead the UK in vivo pharmacology group where his main areas of focus have been on orphan diseases, cancer and neurodegeneration.

Dr Larissa Kerecuk is very proud to be the Rare Disease Lead at Birmingham Children’s Hospital where she is developing the first Children’s Rare Disease Centre in the UK. This centre will provide a better integrated holistic care for children, young people and families affected by rare diseases as well as increasing access to research and new treatments.
Larissa is the lead for the 100 000 Genome Project at Birmingham Children’s Hospital, the lead recruiter in the West Midlands, which will provide a diagnosis and personalised approach to many yet undiagnosed children.
As Consultant Paediatric Nephrologist, Larissa specialises in treating children with kidney diseases including those on dialysis, which requires a holistic approach. Larissa is also Renal Research and Transition Lead and places great importance in integrating care for all patients. Larissa is the founder and coordinator of the Autosomal Recessive Polycystic Kidney Disease Rare Disease Group in the UK and has established international collaborations with the US and Europe. Larissa also developed the Human Factors Course to improve patient safety. More recently Larissa has been appointed as the NIHR Clinical Specialty Lead for Paediatrics in the West Midlands and her vision is for research to become an integral part of everyday NHS care.

Dr Julie Vallortigara has been working in Ataxia UK’s since November 2013. She has developed a good understanding on the best practice for evaluation of research projects and their ongoing monitoring and support. Dissemination of research information to people living with ataxia and to researchers and healthcare professionals has also been an important element of her role. Finally Dr Vallortigara has gained significant knowledge about the issues and the needs of people living with a rare and long-life condition such as ataxia, by her contribution to the services provided to patients such as the helpline, workshops, and local support groups.
 

Sheela Upadhyaya is currently the Associate Director of the Highly Specialised Technology program at NICE and is responsible for running the program to evaluate medicines and technologies for rare and ultra-rare conditions for commissioning in the NHS.
Prior to joining NICE, she was a commissioner of rare and ultra-orphan disease services in NHS England, where she delivered many improvements to these services by collaborating with industry, clinicians and patient groups. During that time she successfully decommissioned failing services and seamlessly transferred the care of patients to better quality services.
As commissioner, she held responsibility for the genetics and metabolic portfolio leading nationally for lysosomal storage disorders. In this role, she delivered more efficient drug and homecare prices by running national tender exercises with the Department of Health, Commercial Medicines Unit. As a result of this, she was selected to sit on the Department of Health’s National Homecare Medicines Committee developing the national homecare standards. Sheela has a passion for partnership working and believes that collaboration across the sector is the key to delivering high quality outcomes for all stakeholders. She is an adviser for the James Lind Alliance, a program that facilities identifying priorities for research. Sheela strives to ensure patients with rare conditions secure excellent quality and good outcomes in an efficient effective environment.

Dr Larissa Kerecuk is very proud to be the Rare Disease Lead at Birmingham Children’s Hospital where she is developing the first Children’s Rare Disease Centre in the UK. This centre will provide a better integrated holistic care for children, young people and families affected by rare diseases as well as increasing access to research and new treatments.
Larissa is the lead for the 100 000 Genome Project at Birmingham Children’s Hospital, the lead recruiter in the West Midlands, which will provide a diagnosis and personalised approach to many yet undiagnosed children.
As Consultant Paediatric Nephrologist, Larissa specialises in treating children with kidney diseases including those on dialysis, which requires a holistic approach. Larissa is also Renal Research and Transition Lead and places great importance in integrating care for all patients. Larissa is the founder and coordinator of the Autosomal Recessive Polycystic Kidney Disease Rare Disease Group in the UK and has established international collaborations with the US and Europe. Larissa also developed the Human Factors Course to improve patient safety. More recently Larissa has been appointed as the NIHR Clinical Specialty Lead for Paediatrics in the West Midlands and her vision is for research to become an integral part of everyday NHS care.

I'm International Regulatory Affairs Manager at Santhera Pharmaceuticals (Switzerland) ltd in Liestal. I do have over 9 years of experience in regulatory affairs. I joined Santhera in November 2016 in order to develop the regulatory strategy to register orphan medicinal products in countries outside EU and US. My experience in regulatory affairs is focused on rare disease and orphan products mainly in RoW countries. I received my PhD Diploma from Lausanne University (Switzerland) and I hold a Postgraduate Master in regulatory affairs for biopharmaceuticals from EUCRAF with a thesis entitled "Global Regulatory strategy regarding marketing Authorization taking into account the emerging markets".

Dr Rick Thompson joined Findacure in 2015, after completing his PhD in Evolutionary Biology at the University of Cambridge. As Head of Research, he is responsible for their scientific projects, with the aim of developing a socially financed drug repurposing programme – Findacure’s rare disease drug repurposing social impact bond (RDDR SIB). Rick has designed and completed a proof of concept study to demonstrate the feasibility of the RDDR SIB to the NHS, investors, industry, and patient groups. He also works to encourage industry engagement with rare disease patient groups, promoting an open and collaborative approach to rare disease research.

Tim is a social entrepreneur passionate about delivering the next generation of therapeutics to rare disease patients in need. He is the Founder and Chief Executive of Healx and the Co-Founder and Chair of the Cambridge Rare Disease Network (CRDN), a charity aiming to foster dialogue and awareness around rare diseases in Cambridge, UK.

Prior to Healx and CRDN, Tim worked on University-Industry interactions in the area of Life Sciences for the UK Government Department for Business, Innovation and Skills (BIS). He obtained his PhD in the field of Biophysical Neuroscience at the University of Cambridge. He is also a Junior Associate Fellow of the Centre for Science and Policy (CSaP). Before moving to Cambridge, he obtained an MEng in Bio-Engineering from the University of Brussels (VUB).
 

Nadia Assenova MPharm, MBA, MSc is Senior Director, Regulatory Affairs EMEA region, at Alexion in Zurich. She has over 15 years of experience in global regulatory affairs. She joined Alexion in 2015 focusing on the registration of Orphan Medical products across the globe. Throughout her career, Nadia has been directly involved in multiple regulatory submissions, most recently focusing on development of new indications in ultra-rare diseases and regulatroy strategy for the metabolic products within the Alexion pipeline. Nadia received her Pharmacy MSc degree from the University of Medicine in Sofia (Bulgaria). She also holds an MBA from the University of Strathclyde (UK) and M.Sc. in Health Policy from Imperial College London (UK).

Dr. Ardigò is an MD (specialized in Internal Medicine) and obtained a PhD at the University of Parma (Italy) and a post-doctoral fellowship at Stanford University (California, US). He is author of more than 40 indexed papers. He joined Chiesi in 2010, where acted as Clinical Lead in the registration of the first stem cell therapy in EU and led the cross-company team (with uniQure BV) treating the first patient with a commercial gene therapy in EU. He is chairman of the Therapies Scientific Committee of IRDiRC (International Rare Diseases Research Consortium) and member of EBE-EFPIA ATMP Working Group.

I am a patient advocate for Action Duchenne and curator of the UK Duchenne Muscular Dystrophy Registry.

I had never heard of Duchenne Muscular Dystrophy until my son was diagnosed at the age of 3. At that time I felt compelled to engage with organisations to help my family and became a trustee for the Duchenne Family Support Group. As advocate and curator I speak, on a daily basis, to families affected by Duchenne and all stakeholders in the R&D arena. I am also a graduate of EUPATI (European Patients Academy for Therapeutic Innovation), gaining extra skills as an ‘expert patient’.

Dr. Olaf Ritzeler scouts and evaluates external R&D opportunities in Europe at all development stages with a therapeutic focus on rare diseases. He is working in a global, transversal team to which he brings his strong expertise on drug discovery and development. The research teams led by him have delivered one phase IIb-, two phase I-, five preclinical- and six lead candidates. His contribution to Sanofi’s drug-pipeline was awarded by the “Meilenstein Preis” and “Drug Hunter Award” for outstanding efforts and key contribution to drug innovation and approval.

Carina Schey has many years of both pharmaceutical industry and clinical pharmacy experience. She is a consultant health economist based in Switzerland, also currently pursuing research through the University of Groningen, PharmacoEconomics and PharmacoEpidemiology Unit in the Netherlands. The primary focus of her research is developing ways of demonstrating the true value of orphan drugs, as alternative options to standard cost-effectiveness studies.
Carina was a clinical pharmacist with a special interest in rare diseases, having worked at several leading London hospitals. Between 2002 and 2008, Carina designed and implemented patient-focused homecare services on behalf of the UK NHS to patients with rare diseases.
Carina has published several peer-reviewed articles and abstracts. Notable speaking engagements include the European Parliament “Patients’ Rights Day” and “The Chronic Diseases” conference, both in 2015.
Carina sits on the expert judges’ panel for the MassChallenge and on the scientific advisory panels for several charities.