21st Orphan Drugs and Rare Diseases Global Congress 2024 Europe
Innovative programmes to optimize access in a global healthcare market
Thursday 11th - Friday 12th April 2024
KEY INDUSTRY EXPERT SPEAKERS
- Rüdiger Schulze, VP & GM, Germany & Central/Eastern Europe, Ultragenyx
- Fleur Chandler, Head of Market Access UK and Ireland, Sanofi
- Nick Sireau, Chair & CEO, AKU Society
- Pedro Franco, Sr Director for Global Regulatory & Scientific Policy (GRASP), Merck
- Sheela Upadhyaya, Chair Elect, Rare Disease Special Interest Group, ISPOR
- David Pearce, President, Innovation & Research, Sanford Health
- Nigel Nicholls, General Manager UK/Nordics & Baltics, Egetis Therapeutics AB
- Alexander Natz, Secretary General, EUCOPE
- Anne-Sophie Chalandon, Head of Global Rare Diseases and CGT Policy, Sanofi
- Owen Marks, Head of Rare Diseases and Diversity and Inclusion Co-Chair, Pfizer
- Anthony Hall, Chief Medical Officer, Healx
- Arti Patel, Genomics Associate, Great Ormond Street Hospital, Trustee, Treacher Collins Family Support and Gene People UK
- Kerry Leeson-Beevers, Chief Executive, Alström Syndrome UK
- Amanda Bok, Chief Strategy Officer, The Synergist
- Nicholas Brooke, Founder & Executive Director, Synergist
- Bob Stevens, Group CEO, MPS Society
- Melanie Dixon, Trustee, Cure DHDDS
- Carole Scrafton, Director & Co-Founder, Flutters and Strutters
- Dr Usman Khan, Chair, Motor Neurone Disease (MND) Association
- Manuela Maronati, Head of Europe, Rare Disease Organization, UCB
- Dr. Ron Jortner, Founder/CEO, Aspire Biosciences
- Kristin Smedley, CEO, Curing Retinal Blindness Foundation
- Josie Godfrey, Director, JG Zebra Consulting, Joint CEO, Realise Advocacy
- Christian Girard, Co-Founder, OrphaPedia
- Einar Andreassen, Director of HTA and Reimbursement, Norwegian Medicines Agency
- Dr Peter Lanyon, Rare Diseases Clinical Lead, NHS England
- Pr Daniel Scherman, Head of Medicine, Life Sciences Division, European Academy of Sciences
David Pearce
President of Innovation, Research, & World Clinic
David Pearce is President of Innovation, Research, & World Clinic for Sanford Health. He completed his undergraduate Bachelor of Science Degree with honors in biological sciences at Wolverhampton Polytechnic in 1986. He gained his PhD in 1990 at the University of Bath, UK, and did postdoctoral training at the University of Rochester, U.S., and Oxford University, UK.
Dr. Pearce heads the leading lab in Juvenile Batten disease research. He has been researching Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease) since 1997. His research has led to the first clinical trial for Juvenile Batten disease. He has published over 100 research papers on Batten disease. He also oversees a national registry for rare diseases known as the Coordination of Rare Diseases at Sanford (CoRDS). He has served on numerous NIH review committees, has organized rare disease workshops for the National Institute for Neurological Disorders and Stroke (NINDS) arm of the National Institutes of Health (NIH) and is currently the chair of the consortium assembly for the International Rare Diseases Research Consortium (IRDiRC).
As President of Innovation, Research, & World Clinic at Sanford, he oversees the development of research programs, including more than 450 researchers, eight research centers and more than 300 ongoing clinical trials.
Anne-Sophie Chalandon
Head of Global Rare Diseases and CGT Policy
Anne-Sophie Chalandon works to further enhance Sanofi’s external engagement and policy shaping efforts with rare disease community. She brought a solid experience and demonstrated successes in patient advocacy and policy shaping in the rare disease space. Anne-Sophie is a major in genetic and molecular biology, holds a PhD in Business and Management from HEC Paris Business School and a Master’s in health
policy at Paris Sciences Po.
In her current role, she is Head of Global Rare Diseases and CGT Policy at Sanofi, and lead the IFPMA RD group.
Since 2017, she leads an internal digital project construct collectively with the French rare diseases community to address the diagnostic delay in rare diseases. The collective names UniR. Several analyses conducted and jointly developed solutions that are proposed in the “UniR white paper” could be used for sharing, inspiration and to support existing initiatives. Externally, she is member of several public-private initiates such as Screen4care, Together4RD, Moonshot, IRDIRC, …
With her current role at IFPMA she is strongly involved in the advance of the UN agenda for People Living with Rare Diseases.
Pedro Franco
Director for Global Regulatory & Scientific Policy (GRASP)
Pedro Franco holds a degree in Pharmaceutical Science (PharmD) from the University of Lisbon, a Master in Organic Chemistry (M.Sc) from the New University of Lisbon with collaboration with Imperial College in London and a PhD in Orphan drugs and Rare diseases from the University of Sheffield. Pedro Franco completed also his music studies (Cello) in Lisbon.
Currently, Pedro is working as a Director for Global Regulatory & Scientific Policy (GRASP) at Merck and he is mainly focus on regulatory intelligence, strategy and policy. In addition, he is the liaison for the China and Latam region concerning regulatory and policy topics. Previously, He worked at the European Medicines Agency for 12 years in different roles and departments mainly focusing on regulatory affairs, international collaboration, assessment, authorisation of medicines, orphan drugs, paediatrics, peer review, quality and strategy. Beforehand, he was working at INFARMED (the Portuguese national competent authority) as a pharmaceutical assessor. Before joining regulatory competent authorities, he worked as a post graduate research fellow in the area of toxicology, carcinogenic chemistry and drug development.
Amanda Bok
Chief Strategy Officer
Amanda is Chief Strategy Officer with The Synergist. She is a recognized thought leader by the healthcare community. She has worked in international patient advocacy in the area of rare bleeding disorders since 2009, first globally with the World Federation of Hemophilia (WFH) and then at European level, where she was CEO of the European Haemophilia Consortium (EHC) for over a decade.
Amanda's professional path was deeply informed by her early career in international humanitarian diplomacy working with the EU institutions, the Red Cross movement, and the United Nations system – as well as by her personal journey growing up on three continents.
Amanda is a system thinker driven to work through collaboration, co-creation, and collective action. She holds a Master of Science in Environment and Development from the London School of Economics and Political Science (UK), and a Bachelor of Arts in English and International Relations from Austin College (US). She is a EUPATI Fellow, former member of the EPF Ethics Committee, and former member of the European Commission Expert Group on Rare Diseases.
Amanda is part of the senior management team of The Synergist.
OWEN MARKS
Principal, OMGEN, Head of Rare Diseases and Diversity and Inclusion Co-Chair
Owen Marks is Principal at OMGEN: a consultancy focused on brand marketing and commercial strategy, consulting in launch execution, and change management in leadership, DE+I and performance culture. Prior to setting-up OMGEN, Owen served as Business Unit Head of Rare Diseases for Pfizer in the UK. His portfolio encompassed cutting-edge therapies, including Gene Therapies, treating rare disorders like Rare Cardiology, Endocrine, Neuro Muscular, Neuropathies and Haematology conditions. Beyond his corporate responsibilities, Owen held esteemed positions within various influential organizations. He chairs the Advanced Therapeutic Medicines Group for the ABPI and the South East Board for Business in the Community. Additionally, he actively contributes to the BIA Rare Disease Industry Group and serves as a Mentor for the Social Mobility Foundation. Owen's dedication to diversity, equity, and inclusion (DEI) is evident through his co-chairmanship of the Pfizer UK Diversity, Equity, and Inclusion Group. Under his leadership, Pfizer UK achieved a perfect score in DEI practices, as assessed by Top Employer. Notably, Pfizer's commitment to DEI earned accolades such as winning Gold in the annual award from the Employers Network for Equality and Inclusion for its Gender Pay Gap action plan. A graduate in Biological Sciences from the University of Edinburgh, Owen commenced his career as a sales representative before delving into Cardiovascular and Mental Health marketing. He later transitioned to roles involving local marketing and geodemographic data analysis for health promotion planning. Owen's expertise in organizational planning and change leadership shines through his leadership roles in major transitions within the pharmaceutical industry. He played a pivotal role in the transition into Pfizer of Global Blood Therapeutics, consolidating the UK HIV business into ViiV Healthcare and led the planning council for the Pfizer: Wyeth merger in the UK. His career trajectory extends across Europe and International Developed Markets, where he held prominent positions in global and regional marketing leadership. Based in France and then Italy, Owen led teams responsible for Haemophilia and Rare and Orphan Medicines across Western, Central, and Eastern Europe. Through his multifaceted expertise and commitment to excellence, Owen Marks continues to leave an indelible mark on the rare disease pharmaceutical and consulting landscape.
Arti Patel
Genomics Associate, Great Ormond Street Hospital, Trustee
Arti is a Genomics Associate at Great Ormond Street Hospital and is a Trustee of the Treacher Collins Family Support and Gene People UK.
She is a passionate rare disease patient advocate with over 10 years’ experience working and volunteering in the third sector. Arti was born with Treacher Collins syndrome and a bilateral conductive hearing loss. Using her personal experience and the knowledge gained through her studies, volunteering, and employment placements, she has been able to support patients living with a rare disease and/or hearing loss and their families. She has a BSc in Physiology and Pharmacology and PgDip in Genomic Medicine.
MANUELA MARONATI
Head of Rare Disease Europe
Manuela joined UCB in April 2022 with the mandate to build the European Rare Disease Organization in charge of launching new assets in Myasthenia Gravis and in TK2D in the European countries. Before joining UCB Manuela spent almost fifteen years helping American biotech companies to build from scratch their European commercial footprints and successfully launch their rare or ultra-rare disease assets in different disease areas like IPF, DMD, PTLD. Previously Manuela covered different marketing and sales roles in Amgen, launching several oncology products, both at international and national level. At the beginning of her career, she worked as an Engineer designing, building, and validating pharmaceutical biotech and fill-finishing plants. Manuela is a chartered Chemical Engineer with an MBA from Bocconi University. She has a passion for supporting Patient Organizations to develop their skills to advocate for better care and empower young generations, especially women, to develop their full potential.
Alexander Natz
Secretary General
Alexander Natz is the Secretary General of the European Confederation of Pharmaceutical Entrepreneurs (EUCOPE) in Brussels and advises innovative pharmaceutical and biotech companies, including start-ups, in regulatory and pricing & reimbursement matters from the EU law and German law perspective.
From 2008 to 2013, he was Head of the Brussels Office of Bundesverband der Pharmazeutischen Industrie e.V. (BPI). Before, he worked as a lawyer at Sträter Law Firm in Germany with a special focus on managed entry agreements and licensing of pharmaceuticals. Dr. Natz has also worked in the field of competition law with the European Commission and in the pharmaceutical industry.
Nigel Nicholls
General Manager UK/Nordics & Baltics
Nigel Nicholls has served since April 2023 as the General Manager (GM) UK and Northern European Cluster (Ireland, Nordics and Baltics) for Egetis Therapeutics AB and in June 2023 added the Global Patient Advocacy Director to his responsibilities . Nigel joined from Global Blood Therapeutics (GBT) where he was the GM for UK and a member of the European Leadership Team charged with launching voxeletor for sickle cell disease . Prior to GBT, Nigel spent over 10 years at BioMarin as Area Director and Country Manager for UK & Ireland. At BioMarin he managed the introductions of NICE managed access agreements for Vimizim® (elosulfase alfa) for Morquio A syndrome and for Brineura® (cerliponase alfa) for ceroid lipofuscinosis 2 (CLN2). He is a Patron of Contact, a national patient group organization.
NICHOLAS BROOKE
Founder & Executive Director
Society faces critically entrenched and complex problems. Nicholas Brooke strongly believes in the power of collective intelligence and co-creation to solve them. As Founder and Executive Director of The Synergist, Nicholas crafted the vision, team, culture, and methodology to host and manage multi-stakeholder and collaborative platforms towards achieving just this: acting as an agile backbone to catalyse stakeholder alignment, direction, and execution of international, co-created programs to incubate and accelerate co-created strategies. This vision and journey started the day Nicholas became a father for the second time. That day, he became a caregiver for the first time. Nicholas’ youngest child was born with cerebral palsy. This immediately presented his family and him with a broad host of challenges, encompassing: decision-making about medications and devices related to epilepsy; understanding neurological pathways; undergoing complex orthopaedic surgeries and other invasive interventions; adopting mobility devices; seeking digital support; addressing educational obstacles; dealing with health insurances and reimbursement problems (including a court case); and tackling everyday accessibility and societal barriers. This transformative journey led Nicholas and his family to establish the "Ensemble en Chemin" Foundation, dedicated to providing support for individuals with cerebral palsy (CP); it has already resulted in the creation of a specialized school catering to 50+ children. Combining this deeply personal journey with his professional vision, he oversaw the launch of several health-related programs under The Synergist. These include Patient Focused Medicines Development (PFMD) - for which he also acts as Executive Director - a pre-competitive, global, collaborative, and multi-stakeholder platform dedicated to driving innovation with systematic patient engagement in health systems, including the entire lifecycle of medicines, devices, and health services. Other shared-value health programs - all of which bring together key actors from across the private-public spectrum - include: From Testing to Targeted Treatment (FT3), Motherhood Collective Impact, IHI-Guide MRD, IMI-Conception, IMI-Paradigm, and IMI-Gravitate. In addition to being an economist by training and a broad system thinker, Nicholas is an expert in digital solutions. Prior to starting The Synergist, he was CEO of an award-winning digital agency delivering cutting-edge strategy to corporations across sectors globally.
Nick Sireau
Chair & CEO
Nick Sireau, PhD, is the CEO and Chair of Trustees at the AKU Society, a patient group that helps people with AKU, a rare genetic disease affecting both his children. The AKU Society and Nick are the winners of the 2021 Members Award by EURORDIS (the European Organisation of Rare Diseases) because of their work on successfully developing a new treatment for AKU. Nick is co-founder and Chair of Beacon, an organisation that helps all rare disease patient groups. He is the editor of ‘Rare Diseases: Challenges and Opportunities for Social Entrepreneurs’ (Greenleaf 2013) and of the 'Patient Group Handbook: A Practical Guide for Research and Drug Development' (Beacon 2016). Nick is co-founder and Chair of Orchard OCD, a medical charity that funds research into obsessive-compulsive disorder (OCD), a common yet debilitating mental health condition. He is also co-founder of Sirgartan Therapeutics, a biotech that focuses on new treatments for OCD, and of Sireau Labs, a biotech that is developing mRNA therapy for AKU and other rare genetic diseases. Nick has a BA in history and economics from Oxford University, an MSc in management studies from the Lyon Graduate School of Business, an MA in Journalism Studies from Westminster University and a PhD in social psychology from City University. He is a fellow of the Ashoka Fellowship of Social Entrepreneurs.
KERRY LEESON-BEEVERS
Chief Executive
Alström Syndrome UK (ASUK) was established in 1998 and is a registered charity providing information and support to individuals and families affected by Alström Syndrome (AS) and to the service providers working with them. ASUK works in partnership with Birmingham Women’s and Children’s Hospital and the Queen Elizabeth Hospital, Birmingham to deliver a highly specialised service, funded by NHS England. As a patient led organisation, the needs and wishes of people affected by AS remain at the heart of everything we do. We aim to; provide personalised support, raise awareness, conduct pioneering research, and enable better treatments and monitoring through the AS multi-disciplinary clinics. ASUK co-founded Breaking Down Barriers in partnership with The Sylvia Adams Charitable Trust. Breaking Down Barriers is a network of over 70 organisations providing support to people affected by rare and genetic conditions. We work together to learn, develop, and share good practice. Promoting equity, diversity and inclusion is at the centre of what we do. Our Experts by Experience Advisory Group help us to understand the lived experiences of people from diverse and marginalised communities who are affected by rare and genetic conditions. We create safe spaces for learning and collaboration, deliver training and run a community outreach project. We unite and strive for equitable access to services and support for all. Kerry has lived experience as her son is diagnosed with AS which is an ultra-rare and complex condition. She is a patient representative on the England Rare Diseases Framework Delivery Group and is co-applicant on various NIHR funded research studies. Kerry has been involved in various UK, EU and global projects focussing on rare diseases, genomics and drug development and is experienced in patient and public involvement and engagement.
Sheela Upadhyaya
Chair Elect, Rare Disease Special Interest Group
Sheela Upadhyaya is a consultant to the life sciences industry and in her career has played several roles in the rare disease space. She has been in healthcare for over 25 years with the last 15 in the rare disease space having led the NICE Highly Specialised Technology program, responsible for running the program to evaluate medicines and technologies for rare and ultra-rare conditions for commissioning in the NHS along with being their Rare Disease and COVID 19 strategic adviser.
She now consults with the life sciences industry and is currently chair for Together for Rare Diseases, an initiative to support collaboration with European Reference Networks and Industry to improve the landscape for research in rare diseases.
Sheela has extensive experience in understanding the issues that face the healthcare ecosystem when trying to secure access for medicines for orphan and ultra-orphan conditions. These include developing innovative access arrangements in liaison with industry, clinicians, patients and the NHS.
Sheela has co-authored several papers that discuss HTA methods for assessing the value of orphan medicines and presented at many conference issue panels on the subject.
Sheela also provides advice to the European Haemophilia Consortium Think Tank, is Chair for the ISPOR Rare Disease special interest group and Trustee of the My Name’5 Doddie Foundation.
Sheela has a passion for partnership working and believes that collaboration across the sector is the key to delivering high quality outcomes for all.
Josie Godfrey
Co-Founder and CEO
Josie is the Director of JG Zebra Consulting which provides independent consultancy services with a focus on rare diseases and innovative technologies. She is Co-founder and CEO of Realise Advocacy which supports patient advocacy groups to maximise their impact in HTA and access.
Her current projects include providing strategic market access, policy and stakeholder engagement advice, and support to pharmaceutical companies, trade bodies, and patient advocacy groups. She is the Strategic Director for Duchenne UK’s Project HERCULES, an award-winning international multi-stakeholder collaboration developing evidence and tools to support Health Technology Assessments (HTAs) for new treatments for Duchenne Muscular Dystrophy.
Josie has extensive experience in rare diseases and led the establishment of the Highly Specialised Technologies programme at NICE, the National Institute for Health and Care Excellence in the UK which carries out Health Technology Assessments of treatments for very rare diseases.
DR USMAN KHAN
Chair
Dr Khan is a health policy and management professional who has held senior board roles in the public, private and not-for-profit sectors over the last 25 years. In the last decade he has held senior leadership roles in the UK and abroad including that as Executive Director of the European Health Management Association and the European Patients Forum. He is currently Managing Director at Modus Europe, a UK based health advisory practice. Dr. Khan additionally holds a portfolio of non-executive positions being the Chair of the Motor Neurone Disease Association, Chair of South East Coast Ambulance Service NHS Foundation Trust, Vice Chair of Governors at London Metropolitan University, and an NHS Independent Non-Executive Director at North Central London Integrated Care Board. Dr. Khan is also Visiting Professor in Health Management and Policy at KU Leuven, Belgium and teaches at New York University (London). He is a regular public speaker and writer on health policy matters and author most recently of Health Management 2.0 (Emerald Publishing).
BOB STEVENS
Group CEO
Having two sons diagnosed with a rare disease (MPSII) changes your perspective and priorities in life. Having spent over 20 years in construction, many of which were at Board level, Bob decided to pursue a career in the Charity sector. At first becoming a Trustee, then progressed to Managing Director and Group CEO of various patient organisations, supporting those living with rare diseases and complex needs. Bob wanted to bring together his family experiences of a; Rare life lived and commercial attributes in order to improve the lives of those most marginalised in society whilst, at the same time, helping to create a more sustainable financial future for patient organisations both in the UK and globally. As well as being Group CEO of the MPS Society/Rare Disease Research Partners he is proud to serve as Vice Chair of the LSD Collaborative, Board Member of the worldwide International MPS Network, Acting Chair of the New Born Screening Collaborative and work as a patient representative for MPS in various global charitable access programs that provide a possible lifeline to treatments in selected areas of the world. These are not job roles, but a way of life!
ROHAN SIMON
Associate Director - Business Development
Rohan Simon is the Associate Director for Business Development at the Insights Research Organization & Solutions (IROS) – the first homegrown Contract Research Organisation in the UAE. At IROS, Rohan is responsible for promoting the clinical research operations landscape in the UAE and the region. With over two decades of experience in the pharmaceutical industry, Rohan has held senior roles across leading entities in the sector. Prior to IROS, Rohan was the Head of Clinical Trial Services at Alliance Healthcare (part of AmerisourceBergen), where he expanded the clinical trial supply from a UK-only business to a global scale and working closely with IQVIA to build its Clinical Trials Supply Chain services. With a strong track record of building a business ground-up and implementing new services within a GxP environment such as manufacturing, clinical trials, and supply chain, Rohan was earlier associated with GSK Global Manufacturing & Supply in various roles and with Barts NHS Trust, specialising in oncology, clinical trials, and pharmacy manufacturing unit. He is qualified as a pharmacist in the UK and has completed his Master’s in Pharmacy from the Aston University, Clinical Pharmacy Diploma at the Queens University, Belfast, and was named as production manager on a MHRA IMP & GMP License.
MELANIE DIXON
Trustee
Mel set up the charity Cure DHDDS after finding out that two of her three children carried an ultra-rare and newly discovered DHDDS genetic mutation which causes a progressive metabolic disorder. Mel soon realised that there was limited support and research available on the condition so with her husband Charlie Dixon founded the Charity Cure DHDDS www.curedhdds.org. Mel now works full time for this charity supporting families and driving research in the hope of expediting a treatment. Mel is also a member of UKRET (UK Rare Epilepsy’s Together) and the Genomics England Participant Panel. Mel is a passionate advocate for raising awareness and highlighting the need for investment in those suffering with rare and ultra rare diseases.
DR. RON JORTNER
Founder/CEO
Dr. Ron Jortner is a scientist and entrepreneur based in Cambridge, UK. He is Founder and CEO of Aspire Biosciences, a company using a novel approach to seek new treatments for rare diseases. Ron has been serving the rare disease community for years, working closely with patient groups, scientists, industry leaders, and clinicians. He has advised on technology, trial design, data analysis, and regularly supports international rare disease families in accessing expertise and research. He served as a trustee of the Cambridge Rare Disease Network, and led the charity’s Companies Forum. As member of the Action for Rare Disease Empowerment (ARDent) taskforce, he was instrumental in examining the impact of the COVID19 pandemic on rare disease clinical trials and access to treatments. Previously, Ron held scientific positions at the MRC Laboratory for Molecular Biology, the Max Planck Society, and other elite scientific institutions worldwide; his research always combining biology, computational modeling, and technology. Ron completed his Ph.D. in computational neuroscience at the Hebrew University and California Institute of Technology (Caltech), and his B.Sc. (Magna cum laude) at the Hebrew University.
ANTHONY HALL
Chief Medical Officer
Dr Anthony Hall (Tony) graduated from King’s College London with first class honours in physiology and pharmacology before going on to qualify as a doctor in 1991 from the Royal Free Hospital London. He joined the pharmaceutical industry in 1994 and has spent many years working on the development of drugs for rare diseases. In recent years Tony has worked at Prosensa/Biomarin on the development of antisense oligonucleotides for the treatment of Duchenne muscular dystrophy and at Mereo BioPharma where, as Therapeutic Area Head Orphan Diseases, he worked on the development of a monoclonal antibody for the treatment of osteogenesis imperfecta. In January 2020 Tony joined Healx as Chief Medical Officer, with overall responsibility for the company’s clinical programmes. Tony was one of the key people who conceived the development programme and clinical trials for the repurposing of nitisinone for the ultra-rare disease alkaptonuria (AKU). The DevelopAKUre Consortium, in which his company participated, was awarded EUR 6 million under the EU’s 7 th Framework Programme and for which a Marketing Authorisation was granted in September 2020. Tony is Co-founder and Trustee of the rare diseases charity Beacon (formerly Findacure) and is a member of the Scientific Advisory Boards of two patient groups. Together with Beacon’s Co-founder, he published a book entitled “The Patient Group Handbook: A Practical Guide for Research and Drug Development”.
Kristin Smedley
CEO
In 2011, Kristin launched a nonprofit to fund research and resources for children living with the blindness her two sons are affected by, CRB1 LCA/RP. The Curing Retinal Blindness Foundation has raised over 1.4 million dollars and achieved a National Rare Eye Disease Awareness Day. That legislation, H.R. #625, was the first in US history to be submitted in Braille and it advocates for better resources for blind and visually impaired Americans.
Kristin partnered with Spark Therapeutics to help achieve the first ever FDA approved gene therapy to treat an inherited retinal disease in the United States. She has done a TEDx Talk in New York City to change perceptions of blindness and she partnered with Comcast media to spread awareness of the inclusive X1 product.
In 2019, Kristin published her first book called Thriving Blind: Stories of Real People Succeeding Without Sight. It achieved #1 New Release on Amazon for paperback and kindle. Kristin partnered with TMobile and the National Braille Press to make the book available in electronic Braille.
Kristin received one of the highest honors in the rare disease community, the Champion of Hope Award, from Global Genes and was appointed the Pennsylvania Ambassador for the National Organization of Rare Disorders (NORD).
During the COVID19 pandemic Kristin co-founded an online show/podcast called Brilliantly Resilient which helps people Reset, Rise and Reveal their Brilliance during life’s challenges. Her book by the same title debuted on the Amazon Top 100 Best Seller List, right next to Deepak Chopra.
In 2021 Kristin co-founded ThrivingblindAcademy.org to solve the employment, literacy, and financial crisis in the blind community. She is Co-Executive Producer of the short film, The Great Equalizer, (Feb. 2023) a partnership with Blind Institute of Technology, Insight Global and Salesforce to address the unemployment crisis of the blind.
Hayley Chapman
Senior Program Director
Hayley joined Patient Focused Medicines Development (PFMD)/The Syngerist team in January 2021. Based in Canada, Hayley has a Masters in Health Science from the University of Toronto. With management roles in Marketing and Community Engagement, she has worked in the healthcare sector for over 25 years focusing on the strategic development and evaluation of partnerships between biopharma companies and patient organizations. Hayley actively contributes to several Patient Advisory Boards sharing her caregiver perspective following her child’s cancer diagnosis. In her current role as Senior Program Director, Hayley leads key PE projects at PFMD related to patient experience data, monitoring to learn strategies, post-launch activities, and integrating a patient-centered approach to achieving organizational ESG/sustainability commitments.
Lara Bloom
President and CEO
Lara Bloom is the President and CEO of The Ehlers-Danlos Society and responsible for globally raising awareness of rare, chronic, and invisible diseases, specializing in the Ehlers-Danlos syndromes, hypermobility spectrum disorders (HSD), and related conditions.
Lara manages coordinated medical collaboration, raising funds for research, and focusing on the global progression of EDS and HSD. She speaks at conferences all over the world, lecturing to medical students and professionals, and supports specialists in the field by offering her experience as a leading Patient Expert. Commemorating ten years in the field of patient advocacy, Lara was officially appointed a Professor of Practice in Patient Engagement and Global Collaboration at Penn State College of Medicine, USA, on March 11, 2020.