Rare Disease Project

As COO of Nested Knowledge, Kathryn supports the development of software for living evidence reviews. Previously, Kathryn conducted health economics and outcomes research at Biohaven Pharmaceuticals as well as clinical addiction research at the National Institutes of Health.

Through the Young Adult Rare Representative (YARR), Kathryn advocates for rare disease policy change and speaks about the patient experience. Kathryn lives with a rare cardiac disease and Postural Orthostatic Tachycardia Syndrome (POTS). She has a Bachelor’s degree in Neuroscience from Wake Forest University.

Dorota Zgodka is a pharmaceutical and healthcare executive, currently Principal at human-centric research and service solutions design strategic consulting company. She brings a three-sided perspective and over 20 years of experience from pharma industry, umbrella patient advocacy and HTA organizations, throughout the medicine value chain and care pathway, in senior leadership roles spanning: strategy, commercial, policy and advocacy, value and access, R&D, business development, and portfolio management.  

A champion of value-based health care, innovative partnerships, and new ways of working, partner to all key stakeholder groups and multiple coalitions. She has served as a board trustee and strategic counsel of diverse for-profit and non-profit organizations, including public-private partnerships, pharmaceutical companies, industry associations, HTAi research organization, umbrella patient organizations and advocacy groups. She is a Steering Committee member of the HTAi Rare Disease Interest Group and member of the Patient and Citizen Involvement Group, co-chairing also the project on new paradigms in evidence and fair value assessment of rare disease technologies; rare disease expert of EURORDIS’ Newborn Screening Working Group; member of Advocacy and Population Needs Group of EURORDIS’ Mental Health and Wellbeing Partnership Network; consortium adviser of SCREEN4CARE, the European public-private partnership; member of the Patient Focused Medicine Development global coalition; board trustee of FH Europe, the Pan-European Patient Network; former inherited cardiovascular and metabolic diseases patient expert and strategic counsel of NOVARTIS’ Access Advisory Board and  NOVARTIS’ European Patient Advocacy Leadership Council.  

She holds scientific PhD and the post-doctoral experience from the Drug Discovery Center in Athens, GA, USA, and executive business education from the London Business School, UK. 

Dr Chavan is a physician, scientist and entrepreneur with 20+ years in multiple therapeutic areas including rare disease in Immunology, Oncology, Transplantation among others. He currently is the Chief Medical Officer at HepQuant. He has recently completed a Venture Capital fellowship with focus on supporting founders in healthcare start-ups. He enjoys mentoring and coaching individuals and teams.

As a health outcomes researcher, my academic interests have focused on leading real-world outcomes research initiatives in the Department of Adult Neurology at the University of Colorado Anschutz Medical Campus. Notably in examining the comparative effectiveness of drug treatments in the management of neurological diseases specifically multiple sclerosis and more recently in the rare neurological diseases of neuromyelitis optica spectrum disorder, myasthenia gravis and spinal muscular atrophy across a spectrum of diverse populations. I have pioneered triangulating comparison measures from multiple data sources including radiographic magnetic imaging resonance measures; clinically administered assessments of mobility and cognition; blood-based biomarkers of neuronal and axonal damage; validated patient reported outcomes; disease clinical history from electronic medical records; resource use and cost of care across sites from claims (billing) data and death records in conducting outcomes-based research. My research also extends to examining the overall burden of disease for neurological conditions using similar data. In addition, my role as the Vice Chair of the Coding and Payment Policy Subcommittee between national payers and the American Academy of Neurology and my local advocacy work in prescription drug policy legislation in the state of Colorado has helped create reform based policies that increase patient access for neurological drugs

Joff Masukawa is founder of Diligentia Strategy, a life-sciences consultancy specializing in development of commercial strategies and tactical plans for manufacturers of rare orphan and specialty drugs, cell and gene therapies, digital therapeutics and other emerging medical innovations. Diligentia also offers government relations and public affairs services to facilitate client business priorities with policymakers and government agencies.

Prior to founding Diligentia, Joff was Vice President and Global Head of Government Relations and Public Affairs at Shire, where he designed and led strategies to build the company’s brand, engagement and leadership with government representatives and agencies, patient advocacy groups, industry associations and other key external stakeholders.

Joff has held senior level leadership roles spanning commercial and corporate functions, including commercial strategy, government and public affairs, market access, patient advocacy, and sales and sales management at Shire, Genzyme, and Visible Genetics. He has developed and executed many commercial launch strategies for innovative products and is adept at aligning optimal legislative, regulatory and market access solutions to support business objectives. He began his career as a clinical sales representative for Merck. Joff is a board member of Americas Health Foundation. He holds BA in International Studies from Johns Hopkins University, an executive certificate in Strategic Communications from Columbia University, and has completed graduate studies in International Affairs at the Johns Hopkins School of International Studies.

With over 13 years of extensive experience, I am deeply committed to pioneering and executing comprehensive patient engagement and advocacy strategies within various health sectors. Renowned for my ability to build and nurture meaningful relationships with patient advocacy groups, I excel at weaving patient perspectives into all phases of research, drug development, and strategy formulation. My dedication to amplifying the patient voice across all levels of an organization is fueled by a genuine passion for transformative healthcare advocacy.

As an innovative and strategic thinker, I possess a solid background in both qualitative and quantitative research methodologies. This expertise, combined with my ability to provide focused strategic consultation, has positioned me as a key player in shaping patient-centric healthcare landscapes. I am also recognized for my ability to develop and implement training and coaching programs, further enhancing the capabilities of healthcare professionals and advocacy leaders.

My career is distinguished by significant achievements in enhancing patient advocacy initiatives, advancing patient-centered healthcare solutions, and fostering deep engagement among crucial healthcare stakeholders. Central to my professional ethos is the empowerment of patients and organizations through dedicated advocacy, comprehensive education, insightful research, and the cultivation of enduring partnerships.

Swapna Kakani, MPH is an award-winning, advocate, speaker, consultant, and researcher in rare and chronic disease health care delivery and patient experience. Swapna was born with Short Bowel Syndrome (SBS) due to atresia and has lived with TPN, tube feeding, and an ostomy for decades. She received a small intestine transplant 10 years ago. Through her platform, Swapna Speaks, Swapna has spoken across the world to several hospitals, health care companies and associations, and has given a TEDx talk. Swapna also does health care advocacy, research, and policy work for the short bowel syndrome, intestinal failure, and broader rare disease communities in her home state of Alabama and nationally. In 2017, she founded Alabama Rare, an organization advancing healthcare policy and education for Alabama’s rare disease community. In 2024, they passed the first community-driven newborn screening legislation. In 2021, she, alongside parent researchers/advocates, co-founded the gutsy perspective, a research initiative driven by members of the short bowel syndrome (SBS) community to ensure the patient and family narrative is represented in research and patient centered outcomes. The gutsy perspective has developed the first ever community-driven disease specific quality of life tool to investigate the well-being of children and their families affected by SBS and published findings from pilot data in multiple journals. Swapna was awarded the consumer advocacy award by ASPEN, the Innovator & Advocator Award by the Oley Foundation, and was nominated by Wego Health as a patient leader hero. 

Swapna, originally from Huntsville, AL, received her bachelor’s in psychology and master’s in public health from the University of Alabama at Birmingham (UAB). 

Paris Scott is a dynamic fundraising and program management professional with a diverse background in law, social justice, health equity, and education advocacy. She excels at driving strategic initiatives, securing major gifts, and developing impactful fundraising programs that benefit vulnerable communities.

As the Director of Development at the We Mean Business Coalition, Paris leads efforts to secure critical funds and partnerships that drive meaningful corporate action on climate change. With a proven track record of success, Paris has consistently inspired others to invest in impactful initiatives. During her time at the American Red Cross, she spearheaded multi-million-dollar fundraising campaigns, with a focus on lifesaving programs such as the Sickle Cell Initiative and Sound the Alarm. A proud graduate of Emory University and the University of Wisconsin Law School, Paris currently divides her time between Atlanta, GA, and Washington, DC.

Dr. Mousumi Bose is the mother of Ilan Betzer (2010-2011), who was born with Zellweger spectrum disorder, a rare genetic disorder of peroxisome biogenesis.  As a result of her personal experience with her son, Dr. Bose re-focused her career goals to study rare disease. Over the last several years, Dr. Bose has conducted research and published multiple papers on the role of the family caregiver in the management of rare pediatric disorders, as well as a recent literature review on the characterization of severity in Zellweger spectrum disorder. Currently, Dr. Bose holds a faculty position in the Department of Nutrition and Food Studies at Montclair State University in New Jersey, studying quality of life, patient-focused drug development,  dietary assessments, and health equity issues in rare disease communities. Dr. Bose is passionate about learning what is important to rare disease families and using that information to improve their lives. 

Marc Yale was diagnosed in 2007 with Cicatricial Pemphigoid, a rare autoimmune blistering skin disease and this inspired him to help others with rare diseases. He has been volunteering and working with the International Pemphigus and Pemphigoid Foundation for 17 years with people to improve their quality of life and encouraging them to become self-advocates. Marc has served as an advisor and board director with numerous organizations to ensure a lasting impact on the lives of people living with a rare disease around the globe.

Dr. Karin Hoelzer directs Policy and Regulatory Affairs for the National Organization for Rare Disorders (NORD®). In this role, Karin provides strategic direction to advance NORDs federal policy and regulatory priorities. She works closely with key rare disease partners across the pharmaceutical and biological space to ensure the policy landscape supports innovative approaches and new treatments to help rare disease patients, and adequately incorporates patient preferences and perspectives in therapy development. Her role also involves extensive legislative and communication engagements to advance rare disease policy priorities.

Dr. Hoelzer is a health policy, risk analysis, and biomedical research expert, with extensive intellectual property and regulatory expertise across most FDA-regulated products. Most recently, she worked at Maximus, Inc. where she established and led a new health data analytics division to provide more timely data and better insights to government clients in support of the public health response to the COVID-19 pandemic.

Prior to working at Maximus, Inc., Dr. Hoelzer served as Senior Officer for Health Programs at The Pew Charitable Trusts where she led policy and regulatory efforts to improve the federal oversight of a variety of FDA-regulated products. Dr. Hoelzer joined Pew from the Food and Drug Administration (FDA), where she served as Risk Analyst. In this role, she assessed and quantified the expected impact of changes to FDA policy and regulatory practice. 

Prior to joining FDA in 2010, Dr. Hoelzer worked as Biomedical Researcher for Cornell University. She received a PhD in comparative biomedical sciences from Cornell University and a Doctor of Veterinary Medicine degree from the University of Veterinary Medicine in Hannover (Germany).  Since 2014, she is also a  registered patent agent with the U.S. Patent and Trademark Office, and remains active in the biomedical research space. This includes serving as Editor in Chief for a major peer-reviewed international biomedical research journal and as the Executive Director for the professional association representing veterinarians in DC.

Jose Delgado, M.D., is the Chief of Strategic Partnerships at ICHOM, where he drives innovative healthcare solutions and advocates for impactful health policies. With over 15 years of leadership in nonprofit and healthcare sectors, he brings extensive expertise in patient-centered outcomes research, value-based healthcare, disability care, addiction medicine, women’s health, and emergency medicine.

He is an Alumnus of UC Berkeley, The Ohio State University College of Medicine, and Harvard Business School. In his spare time, he spoils his rescue sheepadoodle “Reggie,” gravitates towards live music, advocates against healthcare inequities, and is an avid international surfer.

Dr. Eleanor M. Perfetto has worked in government, industry, consulting, academic, and non-profit environments. Most recently, she was with the leading U.S. nonprofit organization focused on patient issues as the National Health Council’s Executive Vice President for Strategic Initiatives. Since 2013, Dr. Perfetto has been a Professor at the University of Maryland School of Pharmacy. Her teaching and research focus on patient and family engagement, particularly in patient centered-outcomes research; patient-focused medical-product development; and clinical outcome assessment. Dr. Perfetto lectures and consults on gathering and using patient experience data to inform clinical trial endpoint selection, clinical outcome assessment selection/development, and value/health technology assessments. Prior, Dr. Perfetto was with Pfizer for almost eight years, most recently as Senior Director, Federal Government Relations.

Recently, she served as the International Society for Pharmacoeconomics and Outcomes Research (ISPOR) 2024 Patient Summit co-chair and in 2016 served as co-chair for the ISPOR Annual Meeting. In the past, she has served as: a CMS MedCAC member; co-chair of the National Quality Forum’s Alzheimer’s Disease and Related Dementias Project and on their Patient-Reported Outcomes Expert Panel; the Pharmacy Quality Alliance and Drug Information Association board chair; and a past member of the Center for Medical Technology Policy and Health Industry Council boards. She holds BS and MS degrees in pharmacy from the University of Rhode Island, and a PhD from the University of North Carolina at Chapel Hill School of Public Health, concentrating in health policy and epidemiology.

As caregiver for her late spouse who suffered from football-related chronic traumatic encephalopathy, Eleanor has become a recognized advocate for patients with head-trauma-related dementias and their families. Today, she serves on the Brain Injury Association of America’s Board as board secretary and governance committee chair. She also is a past chair of the Concession Legacy Foundation board.

Dionne L. Stalling stands at the forefront of a movement dedicated to amplifying the voices of Black patients within the healthcare landscape. As the esteemed founder and executive director of Rare And Black, she has tirelessly championed the cause of ensuring that Black patients' voices are not only heard but also valued and integrated into the fabric of medical decision-making.

At the helm of Rare And Black, Dionne has spearheaded groundbreaking initiatives aimed at addressing the systemic disparities that have long marginalized Black patients within the realm of healthcare. With an unwavering commitment to equity and inclusivity, she has worked tirelessly to dismantle barriers to access and elevate the visibility of underrepresented voices within medical research, treatment, and advocacy.

A graduate of Washington University's esteemed Community Research Fellows program, Dionne embodies the intersection of academic rigor and lived experience. Armed with a profound understanding of community-based research methodologies, she harnesses the power of data to advocate for marginalized communities and drive evidence-based interventions that yield tangible, transformative outcomes.

In addition to her pioneering work with Rare And Black, Dionne serves as a principal at Athari Strategies, a distinguished health equity consulting firm renowned for its innovative approaches to addressing disparities within the healthcare system. Drawing upon her wealth of experience and expertise, Dionne provides invaluable guidance to organizations seeking to cultivate more inclusive and equitable practices, thereby paving the way for transformative change within the field of healthcare.

Dionne's impact extends far beyond the confines of any single organization. As a trusted advisor and thought leader, she sits on numerous advisory boards spanning multidisciplinary medical specialties, where her insights and perspectives are sought after by esteemed institutions such as Washington University, Tufts University, University of Texas at Austin, and Ohio State University, among others. Her unique blend of strategic acumen and lived experience as a patient with nine rare diseases has positioned her as a formidable force in shaping the future of healthcare.

With a steadfast dedication to advancing health equity and amplifying the voices of marginalized communities, Dionne L. Stalling stands as an exemplary leader, inspiring change and driving progress at every turn. Her tireless advocacy, unwavering resilience, and boundless compassion serve as a beacon of hope for countless individuals whose voices have long been silenced or overlooked. In Dionne's vision of a more equitable healthcare landscape, every patient—regardless of race, ethnicity, or medical condition—has the opportunity to be seen, valued, and heard.

Christina Zaleski earned a Master of Science degree in genetic counseling from Sarah Lawrence College in 1999. After graduation, she did genealogy work for Rockefeller University in South Africa. She worked at the Marshfield Clinic as lead genetic counselor from 1999-2012. Christina is currently Director of Genetic Counseling at PreventionGenetics and is also appointed Honorary Associate of Pediatrics for University of WI School of Medicine & Public Health. Christina has experience in many areas including prenatal, pediatric, cancer, specialty clinics, stillbirth evaluations, administration, public health education, and industry. She developed clinical genetics outreach & telehealth genetic counseling services in Wisconsin. She served on St. Joseph Hospital's Bioethics team and was co-investigator on research projects. Christina has published scientific articles in the areas of clinical genetics, stillbirth evaluations, newborn screening, utilization management, and workflow. Highlights of her career include receiving Leadership Award for Excellence in Community Service from the March of Dimes, Wisconsin Chapter, being nominated by peers as a JEMF Master Genetic Counselor, serving as President for WI Genetic Counseling Association and receiving an Outstanding Volunteer Fundraising Spirit of Giving Award (along with her family) after raising over one million dollars for cardiology research, .

Charlene Son Rigby is the Chief Executive Officer of Global Genes. She has spent her career building organizations at the intersection of data, technology, and life sciences. Charlene was previously Chief Business Officer at Fabric Genomics and held executive roles at enterprise software and genomics companies, including Oracle and Doubletwist. She started her career in neuroscience research at Roche. When Charlene’s daughter was diagnosed with a rare genetic disease, she co-founded the STXBP1 Foundation. She is committed to finding a cure for her daughter’s disorder. Charlene’s unplanned connection between her personal life and profession has helped push forward the search for a cure for her daughter and kids like her, and given her work deeper meaning. She holds a B.A. in Human Biology from Stanford University and an M.B.A. from the Haas School of Business at U.C. Berkeley.

Becky Barnes is a seasoned Patient Advocate with over 13 years of experience, currently completing her Bachelor of Social Work (BSW) at Eastern Kentucky University, expected to graduate in Spring 2025. Her advocacy journey began when her sister was diagnosed with cancer, which inspired her to continue helping others even after her sister's battle. Becky focuses on addressing healthcare disparities in rural Appalachia, leveraging her extensive experience and personal commitment to improving access to care for vulnerable populations.

A veteran leader in the rare disease patient focused drug development movement, Annie joined the EveryLife Foundation in 2018, where she’s led the Cost of Delayed Diagnosis: A Health Economic Study, the National Economic Burden of Rare Disease study, the development of the ICD Code Roadmap, and the community-driven Guide to Patient Involvement in Rare Disease Therapy Development. Annie previously held leadership roles at Parent Project Muscular Dystrophy (PPMD) and the Muscular Dystrophy Association (MDA) where she led landmark legislative, regulatory, newborn screening, transitions, and access policy efforts. She is a sought-after advisor to patient-centered organizations and initiatives across the nonprofit and government sectors. Annie’s community roles include service on the Board of Directors of Cure SMA, the Patient Driven Values in Healthcare Evaluation (PAVE) Steering Committee, the Patient Centered- Core Impact Set (PC-CIS) Steering Committee, the National Health Council’s PCORI Valuation Group, the Innovation and Value Initiative (IVI) Patient Advisory Committee, the National Duchenne Newborn Screening Pilot Steering Committee, the Institute for Gene Therapies (IGT) Patient Advocacy Advisory Council, a co-lead with IVI Engaging Patients with Rare Disease in Identifying Meaningful Approaches to CER and Value Assessment (PCORI award), and as a member of the NIH National Center for Advancing Translational Sciences (NCATS) Advisory Council and the Cures Accelerator Network (CAN) Advisory Board. 

Simu Thomas is the Vice president and Global Head of Health Economics & Outcomes Research and Global Medical Communications and Training at Alexion, AstraZeneca Rare Diseases. Simu brings over 20 years of leadership experience in the areas of Value, HEOR, RWE and Access, building and leading capabilities across the world.   

Prior to Alexion, Simu as the Global Head of Value & Access for Rare Diseases at Novartis, Global Head for the Cell & Gene Therapy Unit, where he developed the Value Access strategy for rare diseases and the first CART therapy approved in the world. He was also the founding architect of the IMI HARMONY data initiative with public and EFPIA private partners in Europe, as the leading industry partner in the consortium.  Simu ran the Economic Modeling organization at Novartis, was the Global Head of HEOR for Neuroscience and Ophthalmic franchises and US Oncology. 

He has authored more than 35 manuscripts and 80 congress presentations and co-authored book chapters in the field of Health Economics. Simu holds a PhD in Pharmaceutical Economics from the University of Maryland and MS in Pharmacy Administration from the University of Toledo and Pharmacy degrees from Birla Institute of Technology and Sciences. Simu also serves as Adjunct Assistant Professor at University of Maryland and Rutgers University of New Jersey.