Rajeev Sivasankaran PhD, currently leads the Rare Diseases group in the Neuroscience Division at Novartis Institutes of Biomedical Research. His group is responsible for initiating and establishing drug discovery programs focused on genetically well-defined targets in orphan neurodegenerative diseases. He has led multiple target validation efforts and screening campaigns at NIBR. Dr Sivasankaran completed his doctoral work in molecular biology at the University of Zurich and his post-doctoral work at Children’s Hospital / Harvard Medical School.

Nigel Nicholls currently serves as the director and country manager UK/Ireland for BioMarin  country management for Pharmacia, Rhone Poulec Rorer, Schering AG, Orphan Europe, Jerini AG and BioMarin Europe Ltd. He completed his MSc (Surrey) and MBA (Bath) postgraduate degrees with a focus on the ethics and economics of orphan drugs. He was formerly a trustee but is now a patron of Contact a Family.

Dr. Pablo Sardi is currently the director of neuroscience at Sanofi Genzyme. Dr. Sardi holds an MS in biochemistry, a PharmD from the University of Buenos Aires, Argentina, and a PhD in pharmacology. Pablo currently leads a team studying the roles of genetic mutations in Parkinson’s pathology from cellular and animal models to identification and validation of therapeutic targets and biomarkers of disease. His team has made several original discoveries including the validation of modulation of various targets within the lysosomal pathway as disease-modifying approaches. These results lead to the initiation of proof of concept studies in Parkinson’s disease patients carrying specific gene mutations.

Immo received his license to practice as a pharmacist in January 2003 from the Westfaelische- Wilhelms University in Muenster, Germany and subsequently his PhD in pharmaceutical  sciences from the University of Florida, Dept. of Pharmaceutics in 2008. Immo completed his doctoral research regarding interactions between grapefruit juice and HMG-CoA reductase inhibitors under the supervision of Dr. Hartmut Derendorf. Prior to joining EMD Serono, Immo worked as a  clinical pharmacologist in FDA’s CDER Office of the Center Director and as clinical pharmacology team lead in FDA’s Office of Clinical Pharmacology. During his work at FDA, Immo successfully  Endocrinology therapeutic area. In his most recent role, Immo was responsible for generating impact and serving as CDER expert for outside stakeholders. Currently, Immo serves as EMD Serono’s head of global regulatory & scientific policy (GRASP) US and helps drive the global, strategic development of EMD Serono R&D policy agenda and execution by providing key regional input in supporting development of the portfolio and maximizing lifecycle management by identifying US scientific and regulatory policy issues/trends that have the potential to impact our products and ensuring the information is utilized with key internal stakeholders to optimize product strategies.

Martine is global head of regulatory affairs at Alexion Pharmaceuticals. She is based in Zurich, Switzerland. She has over 20 years of combined R&D and global regulatory strategy experience. She joined Alexion in 2009 and since then has been dedicated to the registration of Orphan Medicinal Products globally as well as shaping a favourable regulatory environment for orphan drug development. Throughout her career, Martine has been directly involved in multiple regulatory approvals across the globe and most recently 2 enzyme replacement therapies for ultra-rare metabolic diseases. Martine received her Pharm D from University Louis Pasteur in Strasbourg (France).

Peter Joyce underwent his PhD in biochemistry at The University of Bristol and post-doc at the MRC studying neurodegenerative models before joining Vertex. At Vertex, Peter led drug discovery projects across a range of diseases from neurodegeneration to oncology to rare disease. Peter Joyce is leaving Vertex to set up his own biotech startup, Grey Wolf Therapeutics, which is focused on delivering immuno-oncology therapies.

Leung Ming Yu is a health economist and pharmacist (MSc) and has been working at the Norwegian Medicines Agency (NOMA) for over 10 years. His responsibilities in NOMA have been pricing and reimbursement, generic substitution, and single technology assessments (STA). Because of the recent reorganization of NOMA, Leung Ming Yu is now also involved in scientific advice. His primary role is the critical appraisal of clinical and economic evidence of STAs. He also worked on the Spinraza case in Norway, the first drug considered under the new “super-orphan” criteria for reimbursement i.e. extremely severe condition (> 30 QALYs lost), very small population (1/100 000 worldwide), significant expected benefit (> 2 QALYs gained). Leung Ming Yu will be discussing these criteria in his talk in Berlin.

Dr. Mania Ackermann is a project leader in experimental hematology at Hannover Medical School biochemistry at Hannover Medical School and holds a PhD in Regenerative Sciences. Her research within the Cluster of Excellence REBIRTH/Hannover Medical School is dedicated towards the development of on new gene and cell therapies for the treatment of rare and common diseases. Mania has a particular interest in the various possibilities of pluripotent stem cell (PSC) technology and has recently established a platform for the large-scale production of mature blood cells from PSCs in industry-compatible bioreactor systems. Given this powerful tool, her recent efforts focus on the application of this system for disease modelling, drug screening as well as the development of novel cell-based therapies in a variety of diseases. Given her translational work, she published several papers and was awarded with different national and international stipends/awards, highlighting her ambiguous goal to drive PSC-derived marophages towards clinical translation.

David Dasberg is the managing director of Facio Therapies and Facio Intellectual Property. He has over 20 years’ experience in the development and commercialization of (bio)pharmaceutical products. As an independent consultant, David performed a feasibility study commissioned by the Dutch FSHD Foundation that laid the foundation for the Facio group of companies. Prior to this, David held business development positions of increasing responsibility at Pharming Group and Fresenius Kabi, where his last position was as vice president.

Dr Lutz Müller is a project leader in toxicology with F. Hoffmann-La Roche in Basel, Switzerland. The focus of his work is on projects in R&D in therapeutic areas such as nervous system, cardiovascular, inflammation, immunology, oncology, and rare diseases. These are spanning small molecules, peptides, antisense molecules, and biologicals. In terms of scientific expertise, he is experienced in genotoxicity, impurities, carcinogenicity, immunotoxicity, in vitro systems, risk assessment, and regulatory toxicology are his primary reference areas. Dr Müller has been involved in the ICH guideline process since its inception in the early nineties of the last century. As disease therapeutic area liaison for NORD (Neuroscience, Rare Diseases, Ophthalmology) in pharma research and early development (Roche pRED), Dr Lutz Müller supports the overall strategy of the company in developing new medicines in these areas. His scientific publication record includes more than 100 original publications in peer-reviewed journals and various book chapters. He is an organiser/lecturer on multiple international meetings and workshops.

Maria Chiara Magnone has a Ph.D. in neuroscience and 15 years’ experience in translational sciences and precision medicine across cardiovascular and metabolic diseases and neuroscience in pharmaceutical and biotechnology companies. She currently serves as senior director/head of translational sciences in cardiovascular and metabolic diseases in AstraZeneca where she previously covered roles of increased responsibility across discovery and early development in Serono, Novartis, and Roche. Her main scientific focus has always been precision medicine and the concept of molecular and genomic disease reclassification in CVMD and neuroscience. Over time she became increasingly passionate about delivering novel personalized medicines to patients with serious diseases and strong unmet medical need in those therapeutic areas and beyond. In Novartis, she led a Ph2s trial on a rare neurological disease (Fragile X syndrome) and was responsible for all aspects of clinical study set up, sites selection, regulatory submissions, engagement with Principal Investigators network, and patient advocacy groups and trial implementation. In AstraZeneca, she currently leads a preclinical program on a rare disease towards entry into a human in collaboration with a peer-pharma and is responsible for all aspects of project strategy, a line of sight, clinical progression, investigator network set-up, interaction with regulatory bodies, and patient advocacy groups.

Sarah Rickwood has 26 years’ experience as a consultant to the pharmaceutical industry, having worked in Accenture’s pharmaceutical strategy practice prior to joining IQVIA. She has an extremely wide experience of international pharmaceutical industry issues, having worked most of the world’s leading pharmaceutical companies on issues in the US, Europe, Japan, and leading emerging markets, and is now vice president, European thought leadership in IQVIA, a team she has run for 8 years. Sarah has played a key role in developing QuintilesIQVIA’s thought leadership offerings, which provide IQVIA pharmaceutical clients with comprehensive and critical guidance during the development and commercialization of prescription medicines, globally. In this capacity, she has advised companies on the launch of products in many therapy areas and countries. Sarah leads a team which presents to hundreds of clients every year, on global pharmaceutical industry issues, with recent research projects including the relative uptake and impact of innovative medicines, the relative strength and prognosis for the developed and the emerging pharmaceutical markets, the global uptake and impact of multichannel marketing, the second phase of biosimilars, established and non-original brand opportunities, and orphan drugs. Sarah holds a degree in biochemistry from Oxford University.

Annu has over 20 years’ experience in the pharmaceutical industry with approximately 15 years with quality management. Annu has had roles such as head of quality R&D, QA manager, GCP manager, compliance officer and clinical research associate, and within clinical development at CROs, big and small pharma, and at headquarters and affiliates. His specialities are good clinical practice, pharmacovigilance, audits and inspections, quality management, and SOPs.

Micah’s primary role at scientific advice is the validation and verification of economic models. His ancillary roles include the critical appraisal of clinical and economic evidence and providing advice on evidence generation and synthesis for Health Technology Assessment (HTA) processes. Prior to joining scientific advice, Micah was a health economic researcher in two evidence review groups (ERGs) for NICE Technology Appraisal (TA) programmes, inclusive of: single technology appraisals (STA), multiple technology appraisals (MTA), diagnostics assessment programme (DAP), and highly specialised technologies (HST) across a variety of disease areas. Micah earned his MSc in health economics and health policy from the University of Birmingham, earning a degree with distinction.

Marc is co-founder and CEO of Minoryx Therapeutics, a clinical-stage biotech company from Barcelona focused on the development of new drugs for a group of rare diseases known as Inborn Errors of Metabolism. Minoryx’s lead compound, MIN-102, targets X-linked Adrenoleukodystrophy and is ready to move into phase 2/3 trials. Prior to founding Minoryx, Marc gained broad experience in drug discovery at Crystax Pharmaceuticals and Oryzon Genomics where he managed several research projects and led the team in charge of target selection, structural biology, computational chemistry, and hit ID through a fragment-based approach. At Oryzon, Marc actively contributed to the identification of the first-in-class inhibitors for the epigenetic target LSD1 currently in clinical studies. Marc obtained a PhD in chemistry from the University of Barcelona and co-authored several patents and publications.

Dr. Gopalan is the head of Cell and Gene Therapy group at VCLS and is a leading ex-member of the Committee for Advanced Therapies (EMA/CAT) and head of the Biologicals Unit at MHRA. Within VCLS, Dr Narayanan provides leadership in the area of complex and disruptive biologics such as cell and gene therapies, called Advanced Therapies Medicinal Products (ATMPs) in Europe, including guidance on product development and regulatory strategy. In addition, he provides input into clinical aspects of other medicines and devices.

Dr. Narayanan has around 20 years of experience as a pharmaceutical physician. He has substantial experience, understanding and expertise in the development of innovative products, primarily through his previous role as an expert regulator at the UK MHRA Biologicals Unit. Dr. Narayanan is qualified as a physician and has post-graduate qualification in general internal medicine and in pharmaceutical medicine.

Qualified as a clinical pharmacist, and holding a master’s in clinical research, Nagore has over 15 years of experience in the pharma industry and healthcare service providers. She is a highly experienced leader in the design and delivery of patient support services with a focus on adherence and patient outcomes. Nagore is passionate about providing the highest quality, personalised support programmes for people living with rare diseases – and has worked across a number of rare indications in multiple countries.

Carole is a market access expert whose work spans health economics & outcomes research (HEOR), health technology assessment (HTA), and value communications support. Carole has a broad experience of working on monoclonal antibodies, fusion protein biologics, and biosimilars. Carole has a special interest in harnessing the power of real-world evidence (RWE) to support innovative, first-in-class molecules and has participated in multiple programs of work with clients in this area.

Carole has an extensive track record of working directly with NICE and NIHR on health technology assessments and policy development in the UK. Carole has close working relationships with several Clinical Commissioning Groups in England, G-BA, HAS and the Centers for Medicare & Medicaid Services in the U.S. which provides an intimate perspective of the changing customer and the future implications for the commissioning of pharmaceutical products.

Following on from more than a decade working in laboratory-based research, Matt joined Ashfield nearly 14 years ago. He leads teams of highly skilled medical writers who work in a variety of therapy areas, including rare diseases, and across a wide spectrum of project types. Matt has a particular interest in how data visualisation and digital healthcare communications can be used to raise awareness, educate, and bring together stakeholders in rare diseases.