Renowned Expert Speakers

18th Orphan Drugs & Rare Diseases Global Congress 2022 Americas

Alan J. Balch, PhD

CEO, National Patient Advocate Foundation

Simu Thomas PhD,

Vice President, Global Head HEOR, Alexion Pharmaceuticals

Magali Taiel, M.D.,

Chief Medical Officer , GenSight-Biologics

Tara J. Britt

Founder and President, Rare Disease Innovations Institute, Inc.

Robert Donnell

Executive Vice President – Medicines Access, Smartway Pharma, a leading provider of Early / Expanded Access Programs (EAP).

Wendy Erler

Vice President, Patient Experience, STAR and Advocacy, Alexion Pharmaceuticals

Jennifer McNary

Exec. Director, Head, Patient Advocacy & Engagement, Fulcrum Therapeutics

Khrystal Davis

Founder & President, Texas Rare Alliance, Advisory Member, Texas Newborn Screening

Raquel Cabo

Vice President, Global Commercial Strategy, Ovid Therapeutics

Alison Schecter

President of R&D, Axcella Therapeutics

Shane Hegarty

Chief Scientific Officer & Co-Founder, AXONIS Therapeutics, Inc

Mike Page

Vice President, Global Regulatory Affairs Development Strategy, Alexion Pharmaceuticals.

Scott Dorfman

President and CEO, Odylia Therapeutics

Kristin Smedley

President, Curing Retinal Blindness Foundation

Karmen Trzupek

Director, Clinical Trial Services, InformedDNA

Jeremy Griffin

Executive Director, New York City Hemophilia Chapter

John Lagus

Executive Vice President, Business Development, Tanner Pharma Group

Nicole Sweeny

Chief Commercial Officer, Praxis Precision Medicines

Patricia Weltin

CEO and Founder of the Beyond the Diagnosis.

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Rogerio Vivaldi

President and Chief Executive Officer, Sigilon Therapeutics Inc.

Rogerio Vivaldi Coelho, M.D., M.B.A., has served as our President and Chief Executive Officer and as a member of our board of directors since 2018. Prior to joining Sigilon, Dr. Vivaldi served as Executive Vice President and Chief Global Therapeutics Officer at Bioverativ Inc. from 2016 until it was acquired by Sanofi in 2018 and served as Chief Commercial Officer at Spark Therapeutics between 2014 and 2016. Before that he led Genzyme’s rare disease business as President of both the rare disease business and the renal & endocrine group, as well as Senior Vice President and General Manager of Genzyme’s Latin America Group during his 20-year tenure at Genzyme. Dr. Vivaldi serves on the Board of Directors of Crinetics Pharmaceuticals, Inc. Dr. Vivaldi holds his medical degree from the Universidade do Rio de Janeiro. He completed a residency in endocrinology at the Universidade do Estado do Rio de Janeiro and a fellowship at Mount Sinai Hospital Center in New York in the department of genetics, focusing on Gaucher disease. Dr. Vivaldi holds an M.B.A. degree from COPPEAD, Universidade Federal do Rio de Janeiro.

Sonal Bhatia

Chief Medical Officer, Rare Disease, Pfizer

Sonal Bhatia was recently appointed Chief Medical Officer for Rare Disease.  
Prior to this role, Sonal held the position of VP, North America Medical Affairs Lead for Rare Disease.  Sonal played a key part in the successful launch of Tafamidis, which is still ongoing worldwide for Rare Disease. She also has experience preparing the healthcare marketplace for innovative solutions for the delivery of medicines to patients, which will be critical to our future gene therapy pipeline. Sonal also previously served as Senior Medical Director & Team Lead at Pfizer, for Eliquis.

Sonal received her medical degree from Ross University School of Medicine and completed her residency in Internal Medicine at the Mount Sinai School of Medicine in New York.  Sonal holds a dual bachelor’s degree in Cell & Molecular Biology and Spanish Studies from University of Toronto, Canada.  Sonal is actively involved with AHA & AHA Go Red for Women, non-profit organizations focused on reducing disparities for access to cardiovascular health and healthy living and being catalyst for change for women’s health.  She currently serves on the Board of Directors & Executive Leadership respectively.

Sonal lives in Roosevelt Island, New York City, and loves spending time with her two children. In her spare time, she enjoys traveling, Zumba dancing, practicing yoga, and creating new cocktails. 

Andrea C. Furia-Helms, M.P.H.

Director, Patient Affairs Staff, Office of Clinical Policy and Programs, Office of the Commissioner, U.S. Food and Drug Administration

Andrea Furia-Helms is the Director of the Patient Affairs Staff in the Office of Clinical Policy and Programs, Office of the Commissioner. In her role, she collaborates with patient communities, the FDA medical product Centers, and other offices to incorporate patient and caregiver perspectives in cross-cutting regulatory meetings.  Ms. Furia-Helms spent over ten years in the FDA’s Office of Health and Constituent Affairs where she directed the FDA Patient Representative Program and coordinated patient engagement activities for the agency.

Prior to FDA, Ms. Furia-Helms was Director of the Back to Sleep (now Safe to Sleep) campaign, a public-private partnership to educate communities on Sudden Infant Death Syndrome (SIDS), at the National Institutes of Health.  She developed SIDS outreach initiatives for African American, American Indian, and Latino communities.

Ms. Furia-Helms has a B.A. in psychology from Framingham State University, a B.S. degree in community health education from the University of Maryland, and a Master of Public Health degree from The George Washington University.

 
 
 

Paul Strijbos

Advanced Neurotechnology Innovation Leader Roche

Paul Strijbos is a PhD neuroscientist with over 25 years of clinical development experience across the product lifecycle. At F. Hoffmann-La Roche, Paul originally joined as the Global Head of Rare Disease Clinical Development but now leads advanced neutotechnology projects designed to improve the probability of success of the late stage Neuroscience and Rare Disease portfolio. This includes the development of wearable technology for the accurate and precise measurement of functional disease progression in the real world. This work has led to the development of the first-ever health authority approved digital endpoint for use in pivotal trials in Duchenne Muscular Dystrophy. Prior to Roche, Paul worked at Novartis, Johnson & Johnson and GlaxoSmithKline.

Christine Von Raesfeld

Founder & CEO, People with Empathy

As Founder/CEO of People with Empathy, Christine Von Raesfeld is a leader in bringing a critically needed patient perspective to cutting-edge medical innovations. Committed to providing patients with chronic and rare diseases with the support they need, Christine works with patient advocacy organizations, industry representatives, and individual patients and their loved ones. Living with many rare and chronic diseases, she believes that the only way to ensure health equity is to leverage one’s own data. As a patient involved in Stanford’s Humanwide program, she speaks on the benefits and advantages of precision medicine, with a special interest in pharmacogenomics. 

Christine’s drive to make lives better for patients has been nationally recognized. In 2019, she spoke on stage at the Startup Health Festival as an invited guest of Sanguine Biosciences. In 2018, Christine served on the Team of Patient Advisors for PatientsLikeMe. She has been nationally recognized for her work in advocacy and when several awards including Silicon Valley Business Journal’s100 Women of Influence, 2019 and a 2020 Community Hero by Assemblyman Kansen Chu. In addition, Christine serves as a Virtual Advisor Team member for the All of Us research program, a Technical Expert Panelists for CMS and a patient advisor/consultant or multiple pharmaceuticals off branded campaigns and startup ventures.

Ashley Cannon

Clinical Program Manager, Life Sciences, InformedDNA

Ashley Cannon is a clinical program manager responsible for coordinating and managing the delivery of clinical programs for InformedDNA’s Life Sciences division. She earned a PhD in neuroscience from Mayo Clinic as well as an MS in genetic counseling from the University of Alabama at Birmingham. Her clinical and research experience focuses on neurogenetic conditions, including neurofibromatosis type 1 and frontotemporal degeneration. 

Kelly Athman

Sr. Director, Medical Affairs, InformedDNA

Kelly Athman is a board-certified genetic counselor with more than 15 years of experience in the healthcare industry. Her passion about increasing access to genomics care and appropriate testing drives her role as the senior director of medical affairs at InformedDNA. Having worked within a health plan prior to pursuing a career in genomics enables Kelly to bring a unique perspective on the intersection of genomics and benefits management. Prior to joining InformedDNA, she served as a genetic counselor for Fairview Hospitals and Clinics, Children’s Mercy Hospital, and CentraCare Health Systems. Kelly holds an M.S. in Molecular, Cellular, Developmental Biology & Genetics and a B.A. in Psychology and Biology from the University of Minnesota.

May Orfali

EVP and Chief Medical Officer, Sigilon Therapeutics, Inc.

Dr. May Orfali is a transformative medical executive with over 25 years of extensive expertise in clinical drug development, medical affairs, and regulatory strategy in multiple therapeutic areas, with a focus on rare diseases, gene therapy, CAR-T, oncology, hematology, infectious disease, and women’s health. Currently, she is a board member at Balanced Biotech, CMO of Sigilon Therapeutics, and President of Rare disease & Oncology Consulting, LLC. Prior to that, she served as CMO at CaNBtridge and led clinical development of oncology and rare diseases at Pfizer, thromboembolic disorders at Artisan Pharma, pulmonology at Aeris Therapeutics, anti-infectives at Cubist and women’s health at Boston Scientific.

Dr. Orfali holds a medical degree from the University of Baghdad, Baghdad, Iraq, and a Pharmaceutical Master of Business Administration from Cambridge University, Cambridge, England. She completed her Fellowship in Pediatric Oncology/Hematology at Massachusetts General Hospital and Children’s Hospital, Boston, MA and conducted clinical research in medical oncology at Dana Farber Cancer research Institute.

Monica L Weldon

President/CEO/Founder Bridge the Gap - SYNGAP Education and Research Foundation

In November of 2012, Monica’s twin son, Beckett, was the first to be diagnosed at Texas Children’s Genetics Clinic with the gene mutation SYNGAP1 (6p21.3). When Beckett was 4 months old, she noticed he was not meeting the same milestones as his twin sister. Monica then began a journey to find answers to help her son. She started to blog about his progress and this led to building a community of parents and caregivers that are now a strong support group. She is the Founder and President/CEO of Bridge the Gap – SYNGAP Education and Research Foundation. It is her passion to help support these families by raising awareness and creating a strong foundation that will accelerate a path to better therapies.

She retired in 2016 after 23 years in education teaching secondary science. Her new focus is on building the programs and mission of Bridge the Gap – SYNGAP Education and Research Foundation. She is the Primary Investigator on the SYNGAP1 (MRD5) Registry and Natural History Study. She is a life member of the Worldwide Association of Female Professionals and a member of the first class of 2017 Illumina Ambassadors established in the United States. In addition to leading the foundation, she is an author, public speaker, consultant on rare disease business strategies and advocates for rare disease legislation at both the federal and state levels. Several of her authored scientific publications include Nature Neuroscience, The Journal of Neurodevelopmental Disorders, and The Journal of Pediatrics. She has authored a book about her son Beckett’s diagnostic journey called “Slow Moving Stream – My Special Boy”. She is a graduate from East Texas Baptist University with a Bachelor’s of Science in Biology/Psychology (1991) and Secondary Certification in Education (1995). She will be attending Northwestern University Pritzker School of Law in the Fall of 2020 to earn her Masters in Science Law.  She has five beautiful children, Haleigh (28), Taylor, USMC (25), Sawyer (23), and the twins Beckett & Pyper (12). She was a Global Genes 2015 & 2016 RARE Champion in Advocacy Award nominee for her work in the rare disease community and WeGo Health Awards Nominee for years 2015, 2017, 2018, 2019, & 2020. She was named 2020 Global Shakers Rare Disease Champion.

Dr. Neena Nizar

Founder and Executive Director, Jansen's Foundation

Dr. Nizar serves as Founder and Executive Director of the Jansen’s Foundation. She is a rare disease advocate and Change Leader in the rare disease community, specifically in the field of ultra-rare skeletal dysplasias. Dr. Nizar has a Doctoral degree in Educational Leadership from Creighton University, Nebraska, is a TEDx speaker, a blogger and passionate voice for the special needs community. She is a Trailblazer for the Rare Advocacy Movement (RAM) and Nebraska’s Mother of The Year, 2018. Dr. Nizar is also a rare disease patient and a mother to two boys with Jansen’s Metaphyseal Chondrodysplasia – a disease that affects less than 30 people worldwide.

Jodie Gillon

SVP Corporate Affairs & Patient Advocacy at Peptilogics

Jodie Gillon is currently the SVP of Corporate Affairs & Patient Advocacy, responsible for relationships with external stakeholders and communications. Jodie has built and leads platform functions such as Patient Advocacy, Stakeholder Engagement, Medical Education, Grants & Sponsorships, Medical, External & Internal Communications, Congress & Event Management, Compassionate Use and Medical Information. Most recently Jodie served as the Chief Patient Officer and Head of Corporate and Medical Affairs at Abeona Therapeutics, a cell and gene therapy company.
Jodie started her career in Advocacy, Hospitals and Government and transitioned to industry over two decades ago holding various roles across Development, Medical & Corporate Affairs.  Prior to joining Abeona, Jodie cumulatively spent over a decade with Pfizer as the Global Medical Lead, Patient Engagement, for the Rare Diseases Business Unit and the Director, Medical Communications, within the Chief Medical Office. She served as a core member on all Medical, Commercial, Launch, Global and Regional Leadership Teams ensuring the patient voice drove strategy and facilitated collaborations with Patient Groups.
Prior to Pfizer, Jodie was the Head of Patient Advocacy and Professional Affairs with Achillion Pharmaceuticals where she led Policy, Alliances, Patient Engagement, Contributions/Grants, Compassionate Use, Medical Information, Medical Communications, Field Medical, and External Affairs. Previously she served as the Head of the Chief Medical Office (CMO) of AstraZeneca where she managed Patient Engagement, Compassionate Use, Trial and Payment Transparency, Meetings and Events, an HCP Engagement Center, Company wide policy, External contributions, Alliances, and Crisis management.
Jodie held additional roles as the Global Communications lead at Novartis, Director of Medical Education for Oridion Medical and as a Health Economist with the Israeli Center for Disease Control and Ministry of Health.  She holds a Master’s of Public Health with a dual degree in Health Economics and Epidemiology from Hebrew University in Jerusalem and a BSFS from Georgetown’s School of Foreign Service. She currently serves on several industrywide Boards & Committees, has published and spoken externally across a wide variety of topics and mentors students and female professionals across our industry.

Craig Martin

CEO, Global Genes

Craig Martin joined Global Genes as CEO in October 2020. His history with the organization goes back more than a decade — including five years as chair of the organization’s Corporate Alliance and more than five years on the board of directors. He is also President of Rithm Health, a firm he founded in 2018 to provide fractional executive services and strategy, business development, partnering and communications counsel for growth companies in biotech and health technology.
 
Craig’s background includes nearly three decades of experience in consulting across health, life sciences, technology and healthcare markets, working with industry, providers, patient groups, and government institutions. He has worked extensively over the past two decades in rare diseases and precision medicine.

Craig was previously a Global Principal for Biotech and Health Technology with Ogilvy Consulting, based in Cambridge and New York.  Prior to that, Craig served as CEO of Ogilvy’s Feinstein Kean Healthcare, a specialized consultancy focused on biotech, technology and related fields. He’s held leadership positions with health and life-science focused businesses based in Cambridge, Washington, D.C., New York and Brussels.
 
He also serves on the board of the Fibrolamellar Cancer Foundation, and is a co-Founder and board member of RARE-X.  He is a frequent commentator and panelist on key issues impacting innovation in rare disease. 

Frank Rivera

Co-Founder/President- Stronger Than Sarcoidosis

Founder/President- Sarcoidosis of Long Island
Two time Speaker at the Capitol Building for Congressional Briefings
February 2015- Accommodation from President Barack Obama
Frank Rivera is a two time published author: An autobiography called “Walking in Silent Pain” and a continuation biography “I Have Sarcoidosis but it Doesn’t Have Me”, a book about Strength and Resilience. In December 2017 Frank was named People of the Year in the newspaper organization TBR News Media.  In April 2018, Frank was interviewed by NBC Nightly News about the “Right To Try” bill.
In 2020- 2022- Frank Organized 6 Online Forums.
Including:
Sarcoidosis Minority Virtual Forum for Social Justice video link:
https://vimeo.com/449751019
Sarcoidosis Community Forum on Social Justice and Mental Health (Part Two)- https://www.youtube.com/watch?v=uZhKN59ninU
Distinctive:Discussion of Disparities and Diversity in Sarcoidosis.
https://youtu.be/YB5NxfVzJXY
https://youtu.be/fU1JnR58MnE
https://youtu.be/_f-fPkXlJ2o
2022- Patient Advisory Committee for DEIA for Takeda and Boehringer Ingelheim Pharmaceuticals.
RDLA DEIA Patient Advisory Committee
2022- Patient Advisory Committee for Rare Disease Legislative Advocates-
Speaking in March 2023 at Patient Centricity & Collaboration World Congress 2023 Americas in Washington DC-  Bridging the Gap Between Government, Pharmaceutical and Patients on clinical trials and research from a Patient’s perspective.
Worked with a group of Sarcoidosis doctors, researchers and patients to have a medical journal published by NIH:
https://pubmed.ncbi.nlm.nih.gov/34203584/

Sanjeev Luther

President, CEO & Chairman of the Board, Cornerstone Pharmaceuticals

Sanjeev Luther is credited with significant growth and performance in domestic and international markets. Strategic, pragmatic and results-driven, Sanjeev has led successful business-building and fundraising strategies and increased ROI for both Fortune 500 corporations and startups in pharmaceuticals, biotech, medical devices and diagnostics, including Bristol-Myers Squibb, Novartis, Bausch and Lomb, GE Healthcare and Mallinckrodt. He has a proven track record in driving productivity and reducing costs, with expertise across a range of therapeutic areas and stages, from R&D through commercialization.

At Cornerstone, Sanjeev advanced from CBO to COO, and then to his current role as CEO, in which he leads all of the company’s research and development initiatives, as well as all clinical trial programs. He is also a board member at Lipomedix.

Alan J. Balch, PhD,

CEO, National Patient Advocate Foundation

Dr. Balch has over fifteen years of executive leadership in the non-profit sector with an emphasis on consensus-building and collaboration. He has led numerous federal advocacy efforts on a range of issues both at the legislative and regulatory level. He became the CEO of both NPAF and PAF in 2013. From 2006 – 2013, he served as the Vice President of the Preventive Health Partnership — a national health promotion collaboration between the American Cancer Society, American Diabetes Association, and American Heart Association. Prior to 2006 Dr. Balch was the Executive Director of Friends of Cancer Research.

Dr. Balch has served on the Executive Board of the Patient Advocate Foundation and National Patient Advocate Foundation since 2007. He also serves on numerous advisory boards and committees.

He earned his PhD in environmental studies with a concentration in political economy in 2003 from the University of California, Santa Cruz; master’s degree in environmental sciences in 1997 from the University of Texas in San Antonio; his bachelor’s degree (cum laude) in biology in 1994 from Trinity University in San Antonio.

Simu Thomas PhD,

Vice President, Global Head HEOR, Alexion Pharmaceuticals

Dr. Simu Thomas is the Vice President and Global Head of Health Economics & Outcomes Research at Alexion Pharmaceuticals. Simu brings 20 years of leadership experience in the area of Value, HEOR, RWE and Access, building and leading teams across the world.  

Prior to Alexion, Simu was the Global Head of Value & Access for Rare Diseases at Novartis and previously, Global Head for the Cell & Gene Therapy Unit, where he developed the value access strategy for the first CAR-T 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 Ophthalmics franchises and US Oncology.

He has authored more than 35 manuscripts and 75 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. Simu also serves as Adjunct Assistant Professor at University of Maryland and Rutgers University of New Jersey.

Magali Taiel, M.D.,

Chief Medical Officer , GenSight-Biologics

Dr. Taiel completed her doctorate in Medicine with board certified in Ophthalmology from Lariboisiere Saint Louis University, Paris, France, in 1993, and her Associate Professor degree in 1998. Dr Taiel completed her internship at academic Paris hospitals, was an Associate Professor of Ophthalmology, served as an Ophthalmology Department Head, and ran Surgical and Medical Ophthalmology private practice.  After 13 years of Ophthalmology public and private practice, Dr Taiel has been engaged in the Pharma Industry for 20 years; she brings extensive experience and expertise in drug clinical development, gene therapy, and medical affairs. She started her career at Servier company headquarter, and then worked in Ophthalmology area at Pfizer for several years; she then held international and management positions in various therapeutic areas, including both technical and supervision duties, at Eli Lilly Company for many years. Then, as VP Clinical Development, she led Clinical Development and Operations, to develop antisense oligonucleotides in Inherited Retinal diseases at ProQR Therapeutics. She then moved to GenSight-Biologics in 2018, to supervise the Medical Department and lead Gene Therapy programs in Inherited Retinal and Neuro-Ophthalmology diseases, as the CMO of the company.

Dr. Taiel has authored numerous protocols and articles published in peer reviewed journals, and made critical contributions to successful clinical development and launch of many products. She brings extensive years of experience from both academic medicine and pharma industry.

Tara J. Britt

Founder and President, Rare Disease Innovations Institute, Inc.

Tara is the President and Founder of Rare Disease Innovations Institute, RDII. RDII is a global non-profit focused on educating, engaging and equipping the rare disease community to achieve a higher quality of life, accelerating diagnosis and enabling access and treatment through policy. Through this non-profit and her rare disease network, RDII has developed exclusive toolkits for other states to build upon the learning and success of North Carolina enabling creation of successful councils and unique rare disease networks. The toolkits are state tailored to the unique rare disease population.   RDII also partners with rare disease advocacy groups, academia, foundations, healthcare systems, state and federal government and industry to build disease specific models to support targeted disease populations and the challenges to accessing care and managing their disease.  These models are currently developed in North Carolina and can be modeled globally by the RDII team.

Tara also currently serves as Associate Chair of the North Carolina Rare Disease Advisory Council and Network.  The council was created as a result of co-authoring legislation with a North Carolina patient advocate to create a Rare Disease Advisory Council signed into law, August 2015.   Tara has created a unique rare disease ecosystem within the state that brings together patients, caregivers, academics, clinicians, foundations, industry and any entity in rare disease.  
Information about RDII can be found here:
https://rdii.org/
tjbritt@rdii.org

More information about the council and the network can be found on the following url:
https://ncrarediseasenetwork.org/ 

Robert Donnell

Executive Vice President – Medicines Access, Smartway Pharma, a leading provider of Early / Expanded Access Programs (EAP).

Robert has designed and led some of the most innovative and largest EAPs in recent years including in rare diseases and gene therapy. He has experience across Europe, USA and globally and has advised major blue-chip Pharma as well as smaller biotech companies. He started his career at P&G and AZ before moving to a number of international service providers working with pharma and biotech companies on supply chain solutions. He currently leads all global development and implementation of EAPs at Smartway where he specializes in working with manufacturers to develop the best Medicines Access plan for them.

 

Wendy Erler,

Vice President, Patient Experience, STAR and Advocacy, Alexion Pharmaceuticals

Wendy has built her patient advocacy career in many rare disease communities and oncology. Wendy Erler is the Vice President of Patient Experience, STAR and Advocacy at Alexion Pharmaceuticals where she is responsible for leading the enterprise innovation model to gather and incorporate patient insights throughout the drug development and commercialization processes. She leads the Global Patient Advocacy function and has responsibility for the advocacy team. Previously, Ms. Erler was on the executive leadership team at Wave Life Sciences where she led Patient Advocacy and Commercial.

Wendy graduated from Miami University and earned her MBA from St. Joseph’s University.

Jennifer McNary

Exec. Director, Head, Patient Advocacy & Engagement, Fulcrum Therapeutics

Jenn McNary is a trusted voice in the rare disease community, as a mother, public speaker and fierce advocate. Her work in the rare disease space as a thought leader earned her the Ryan’s Quest Ryan’s Hero award in 2013, and the prestigious 2017 Meyer- Whalley instrument of change award.  Formerly as the director of outreach and advocacy at a Massachusetts based non-profit foundation, she was responsible for the organization of the largest FDA advisory committee hearing in history, with over 1000 duchenne advocates, families, clinicians and researchers in attendance. There are currently only three drugs approved for Duchenne, Exondys51, Vyondys53 and Emflaza, though in various roles, Jenn was involved in the approval process for all three. Jenn has unique experience in the drug development field, as a parent of children enrolled in the clinical trials, an advocate engaging with the regulators and as a patient engagement professional in the life sciences.

Currently, Jenn is the Executive Director, Head of Patient Advocacy and Engagement at Fulcrum Therapeutics and consulting in the biotechnology space with an expertise in caregiver/patient engagement. Her other activities include serving as the Founder of One Rare, a non-profit formed to meet the needs of young adults with rare and chronic conditions and raising her children in Massachusetts.

Khrystal Davis

Founder & President, Texas Rare Alliance, Advisory Member, Texas Newborn Screening

Khrystal joined the rare disease community in 2011 when her newborn son, Hunter, was diagnosed with Spinal Muscular Atrophy (SMA) Type 1, the leading genetic cause of mortality in children under the age of two. SMA Type 1, often described as ALS in babies, robs the ability to move, swallow, and ultimately breathe. Khrystal is the author of Hunt for a Cure: An Unexpected Adventure to Save a Life. Khrystal founded Zebra Leaf Publishing to provide the rare disease community with a platform to promote rare disease awareness.

In May of 2016, Khrystal advocated alongside the FAST Movement (Families for the Acceleration of Spinal Muscular Atrophy Treatments) in a meeting with top FDA representatives for access to Spinraza, an SMA treatment in clinical trials at the time. Together with other FAST members, she asked the FDA to stop placebo trials, provide a means of access for the weakest SMA patients, accelerate the approval, and approve the treatment for all SMA patients regardless of age or type of SMA. In an interim look completed on August 1, 2016, the FDA found the treatment met trial objectives. An Expanded Access Program for SMA Type 1 patients commenced August 12, 2016, and the FDA approved Spinraza for children and adults with SMA on December 23, 2016. Khrystal is committed to improving health outcomes in those with rare diseases through improved access to rare disease treatments. She advocates for the expansion of newborn screening programs and insurance policies that conform to FDA labels for orphan drugs. She is a proponent of patient-driven access to rare disease treatments.

Khrystal holds a Juris Doctorate from Stetson University College of Law and is certified in Clinical Trial Design and Interpretation by Johns Hopkins through the Coursera program. She is a proud wife and mother of five who enjoys travelling the world with her family.

Chris Adams

CEO, Andarix Pharmaceuticals

Available Shortly. 

Raquel Cabo

Vice President, Global Commercial Strategy, Ovid Therapeutics

Avaialable Shortly. 

Alison Schecter

President of R&D, Axcella Therapeutics

Available Shortly. 

Stuart Siedman

Global Head, Patient Advocacy ‑ Rare Disease, Chiesi USA, Inc.*

Available Shorlty. 

Shane Hegarty

Chief Scientific Officer & Co-Founder, AXONIS Therapeutics, Inc

Dr Shane Hegarty is Chief Scientific Officer, Co-Founder and IP Co-Inventor at AXONIS Therapeutics, a Boston-based biotechnology company. He has >12 years’ experience leading cutting-edge, award-winning neuro-protection, -modulation and -regeneration research for neurological disorders. As a Research Fellow in Professor Zhigang He’s lab in Boston Children’s Hospital and Harvard Medical School, Dr. Hegarty led a genome-wide AAV-CRISPR screen for neuro-protection and -regeneration in vivo. Before moving to the US, he was a Faculty Member in the Neuroscience Department of University College Cork, Ireland, and received the prestigious Neuroscience Ireland Investigator Award in 2016. A highly productive researcher with 29 research papers (22 as first/senior author), >1,000 citations and h-index = 15, and serial grant awardee. Dr. Hegarty acts as Editor for Frontiers and The Biochemist, and expert reviewer for a number of esteemed journals and international funding agencies. An experienced university lecturer, research supervisor and mentor, who graduated top of his Neuroscience BSc class.

Mike Page

Vice President, Global Regulatory Affairs Development Strategy, Alexion Pharmaceuticals.

Mike leads a global team of strategists who define and deliver innovative regulatory approaches across Alexion’s rare disease portfolio. With over twenty years regulatory experience in Europe and the United States and has worked across all stages of development. Prior to joining Alexion, Mike led the US Regulatory team for oncology at Eisai and managed the regulatory aspects of Eisai’s monoclonal antibody products. Prior to that, Mike was a regulatory affairs consultant at United BioSource Corporation, before which he was a Director of Regulatory Strategy at Pfizer, both in the UK and the US.  With a particular interest in late stage development and product registration, Mike has global experience in therapeutic areas including oncology, hematology, psychiatry, neurology, sexual health, and addiction disorders.

Mike is a graduate of the University of Hull, UK.

David A Pearce, PhD

President of Innovation, Research, & World Clinic, Sanford Health

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 vice-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.

Scott Dorfman

President and CEO, Odylia Therapeutics

Scott Dorfman is president and CEO of Odylia Therapeutics, a non-profit biotech company whose mission is to facilitate the translation of rare disease with proof-of-concept from the lab into clinical trials. Prior to Odylia, Mr. Dorfman founded and was Chairman, & CEO of Innotrac Corporation (NASDAQ: INOC), provider of eCommerce services. Founded in 1984, Innotrac employed over 2,500 employees with $250 million in revenues. The company merged with eBay Enterprises (division of eBay) and sold to Belgium Post (Bpost).

Mr. Dorfman served on the Board of Visitors for Emory University and is a past member of the Board of Directors of the Partnership against Domestic Violence (PADV). In addition to serving on the Radial board, he has also sat on the Board of Directors for Chatham Capital, Return.com and Market Velocity, Inc.

Mr. Dorfman currently serves as an Operations Partner for Fulcrum Equity Partners and sits on the Board of Nacuity Pharmaceuticals Inc., Dropoff Inc., Complemar Corporation, Fulcrum Equity, Odylia Therapeutics and Usher 2020 Foundation. Mr. Dorfman received a BBA from The University of Georgia in 1979.

Kristin Smedley

President, Curing Retinal Blindness Foundation

Kristin Smedley’s mantra is “Life is funny… sort of.” Her fun-loving spirit and energetic personality guided her life in the direction of a career in teaching. However, when her two sons were born blind, Kristin walked away from the classroom to teach her sons how to navigate a world they could not see.

With the right foundation and a multitude of resources, her children have achieved more than most sighted children their age including recording artist, international Braille competition finalists, top blind athlete in the United States, high school Commencement Speaker, and most recently, Michael was honored with the President’s Award at Penn State University for being in the top 1% of the 75,000 undergrad students and Mitchell scored in the top 3% of all high school students that took the SAT.

In 2011, Kristin launched a nonprofit to fund research and resources for children living with the rare eye disease her sons have, CRB1 LCA/RP. In just ten years, 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.
 
In 2019, Kristin published her first book called Thriving Blind: Stories of Real People Succeeding Without Sight.  It achieved #1 New Release and Best Seller on Amazon for paperback and kindle.  Kristin partnered with TMobile and the National Braille Press to make the book available in Braille. She used that book to catapult an engaged and supportive online community called Thriving Blind Academy which connects families living with blindness to each other and to mentors and resources for succeeding without sight.

Kristin lives in suburban Philadelphia with her three children and two rescue dogs.

Karmen Trzupek

Director, Clinical Trial Services, InformedDNA

Karmen Trzupek currently directs clinical trial services at InformedDNA.  As a clinical genetic counselor, Karmen developed the first nationwide telemedicine program for ocular genetic counseling & genetic test coordination services.  She has managed many rare disease outreach programs in collaboration with biopharma companies & patient foundations. Today, she develops strategies & programs that drive patient recruitment and enrollment in rare disease clinical trials.  As a national telemedicine practice, InformedDNA uses telehealth services to screen patients for clinical trials, remove barriers to genetic services, and engage patients and families in the clinical research process.

Founded in 2007, InformedDNA is the country’s largest applied genomics solutions company, helping more people harness the full power of the genomics revolution. With the largest, lab-independent staff of board-certified genetics specialists in the U.S., InformedDNA helps to ensure that pharmaceutical and biotech companies, health plans, clinicians, and patients all have access to the highest quality genetic services.

Key offerings for pharmaceutical and biotech companies include design support for genetics-based clinical trials and studies, patient engagement and recruitment, physician education and engagement, clinical genetic counseling, and test ordering and interpretation services.

For more information, visit www.InformedDNA.com.

 

Jeremy Griffin

Executive Director, New York City Hemophilia Chapter

Jeremy Griffin joined NYCHC with over 15 years of professional experience leading growth for nonprofits.
Prior to his role of Executive Director of NYCHC, he served as the Senior Development Manager for the National Hemophilia Foundation (NHF) where he oversaw the creation and implementation of a robust individual giving program.

He is adept at optimizing data analytics for organizational growth, has a proven, successful fundraising record and possesses deep ties to key influencers within the bleeding disorders community.

John Lagus

Executive Vice President, Business Development, Tanner Pharma Group

John Lagus is the Executive Vice President of Business Development for Tanner Pharma Group. John spent more than a decade at Orphan Medical where he held various roles in development, commercial, corporate development, and oversight of international. Prior to joining, John worked for 12 years at Idis (and subsequently Clinigen) with roles in commercial, operations, and general management. John has a BA in mathematics from St Olaf College and a MS in statistics from Iowa State University.

Nicole Sweeny

Chief Commercial Officer, Praxis Precision Medicines

Nicole is a commercial executive with a passion for developing and launching new therapies for rare and ultra-rare conditions.  She is currently the Chief Commercial Officer at Praxis Precision Medicines and is developing therapies for patients affected by CNS disorders, including several rare epilepsies.  Prior to joining Praxis, Nicole was at Takeda Pharmaceuticals where she served as a Franchise Head, Rare Diseases.  Previous to Takeda, Nicole was at Shire Pharmaceuticals where she led several product launches and held various US and Global Commercial leadership roles with a focus in immunology and hematology. Prior to joining Shire, Nicole served in Commercial positions of increasing responsibility at AMAG Pharmaceuticals and Sanofi Genzyme Corporation.  Nicole received her B.S. from Boston College.  
 

Patricia Weltin

CEO and Founder of the Beyond the Diagnosis.

Beyond the Diagnosis began working on a project to increase research and raise awareness of rare diseases within the medical community through art. Professional artists paint portraits of children living with a rare disease, the portraits then become part of a traveling exhibit for medical schools, research institutes and hospitals. This exhibit has also touched the hearts and minds of the general public. Since the debut, Beyond the Diagnosis has visited the NIH, Broad Institute, Hofstra Medical, Harvard Medical, the FDA and many more.

Patricia, the mother of two children with Ehlers-Danlos Syndrome, began working in this space by creating a new business model of working by state. Her award winning work in state-level advocacy grew to national advocacy efforts. Today, Patricia proudly works to
successfully use art as a powerful tool to create awareness and increase innovation into orphan and neglected diseases.

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