Rare Disease Week 2023: Exploring accessibility in rare disease clinical research (4-day webinar series)

Kendall is a Patient Advocacy and Engagement Strategist; specializing is rare disease clinical drug development. She’s a passionate rare disease advocate dedicated to empowering patients, advocacy organizations, researchers, and industry, by developing new innovative strategies to catalyze rare disease drug development. She is a strategic thinker with excellent collaboration and problem-solving skills and business acumen. Kendall has held key roles in the nonprofit and biopharmaceutical industries.Kendall specializes in cultivating partnerships with advocacy organizations, identifying and partnering with Key Opinion Leaders, identifying key business needs, developing customized strategies to achieve key outcomes, and balancing a global focus with national, and local patient partnerships. Kendall works with leaders in the rare disease community to advance drug development.Kendall serves as a board member to Team Telomere and the Rare and Undiagnosed Network. She has a Master’s Degree in Public Heath and a Bachelor’s of Science in Psychology.

Erika Heiges has been working hard to bring “the patient voice” to the immunoscience portfolio study teams, as well as bring BMS studies to the patient community through advocacy partnerships. Introduced to BMS’ People and Business Resource Group DAWN, Differently-Abled Workplace Network through usability assessment request, Erika has now evolved to DAWN’s Project Lead for Disability Diversity in Clinical Trials strategy and program. Erika has supported patients for over 20 years in various public, non-profit, clinical, private and government environments. She holds a master’s in public health from San Jose State University and a BS in health science from the State University of New York College at Cortland.

Dr. Huang is a board-certified family medicine physician. He is the director of Student Health Services at Gallaudet University. Previously, he worked at Unity Health Care, where he started the CODA Clinic – Comprehensive Medical Care for Deaf Adults and Children with the goal of providing high quality medical services to the deaf community. After completing his medical degree from the Larner College of Medicine at the University of Vermont, he trained at Montefiore Medical Center in the Family and Social Medicine Residency program, as well as served as chief resident. He is a CODA, (child of deaf adults), has bilateral hearing loss and uses hearing aids.

In February 2023, Amir joined The Janssen Pharmaceutical Companies of Johnson & Johnson as their Senior Manager, Product Communications and Public Affairs.

Most recently, Amir served as Corporate Partnership Lead at the American Foundation for the Blind (AFB) and was responsible for managing all corporate relations and fundraising initiatives in support of AFB’s mission of creating a world of no limits for blind and low vision individuals. He was also tasked with creating partnerships with external agencies and DEI recruiters in support of AFB workforce development programs such as the Blind Leaders Development Program and the AFB Talent Lab. In addition to managing all AFB sponsorships, Amir worked to recruit DEI experts from federal agencies and corporations to participate at the AFB Leadership Conference as speakers, moderators, and panelists. He also created panels and produced webinars relating to DEI and accessibility, and has presented to employee resource groups to raise awareness around unconscious bias, accessibility, and accommodations.

Before joining AFB in 2019, Amir served as the Fundraising and Events Manager for Special Olympics DC where he was tasked with raising funds and awareness in support of programs for over 1600 athletes with intellectual disabilities in the District of Columbia. Amir’s duties included managing sponsorships, and raising funds for events such as the Night of Trees Gala, Law Enforcement 5K Torch Run, and the annual Polar Plunge. He also built coalitions with local businesses, the mayor’s office, DC Police Department, and Federal agencies to promote inclusion for athletes and raise awareness for DEI initiatives.

Prior to Special Olympics DC, Amir worked as the Communications Manager at the ENDependence Center of Northern Virginia (ECNV), an organization dedicated to empowering people with disabilities to live independently. His duties included publicizing ECNV’s initiatives and impact on the disability community through social media, publishing newsletters, press releases, and speaking engagements. During his time at ECNV, Amir also launched two workforce development initiatives to create employment opportunities for individuals with disabilities.

A resident of Arlington Virginia, Amir is very active in the disability community. He currently serves on the board of directors for three disability related organizations including the Metropolitan Washington Ear, The Aid Association, as well as the Metro Washington Association of Blind Athletes.

Amir attended the University of Maryland College Park, where he received his Bachelor of Arts in Criminal Justice. He earned his masters’ degree in Strategic Public Relations from the George Washington University in 2016.

Amir is also very passionate about making people laugh and has performed stand-up comedy at venues such as the DC Improv Comedy Club. He is also very involved in the adaptive sports community and participates in activities such as running, hiking, yoga, and indoor rock climbing.

Angela Rochelle is the lead advocate for diversifying patient representation in Clinical Trials Experience (CTE) at Langland, where she brings her considerable expertise to the agency’s established legacy of excellence in clinical trial recruitment and experience. Prior to joining Langland, Angela spent time at some of the country’s leading multicultural consumer advertising agencies working with high-profile clients such as Unilever, General Motors, Walmart and Proctor & Game. Her industry experience included successful roles in healthcare advertising account management, patient engagement & advocacy work with Bristol Myers & Squibb and Merck.

Often called a mindful troublemaker, Grayson Schultz is an activist, educator, researcher, and writer currently living on the stolen and unceded lands of the Osage and Shawnee tribal nations in southeastern Ohio. From his day job, where he creates DEIB educational content, to his side projects working with research groups and organizations such as the Trans CARE Collaborative, OMERACT, and the American College of Rheumatology, he enjoys focusing on how we can best advocate for communities that are forcibly, systematically, and continually oppressed. As a transgender, queer, disabled, and neurodivergent human, Grayson is most focused on LGBTQIA2S+ health and wellbeing, sex education, chronic illness and disability, disparities in healthcare, oppression, systems change, DEIB efforts, and liberation. In his free time, Grayson enjoys cooking, gaming, and renovating his first home with his partner and two helper dogs, Hank and Dean.

Bojana Mirosavljevic has 15+ years of Rare Disease Patient Advocacy Strategy experience focused on the clinical development process. She is a chemist and embryologist specializing in pre-implantation genetic testing PGT. She is also the Founder and President of the ZIVOT Patient Organization (Serbia & Balkan Region). Bojana has experience in creating and implementing Patient Advocacy strategy for rare diseases in both pharma and CROs. She successfully lobbied for Zoya’s law, increasing access to newborn screening in Serbia and is the recipient of the prestigious EURORDIS Black Pearl Award.

Nikhil Jayswal is a Founder and Director at the IBD Patient Support Foundation (India), where he has been spearheading the efforts of the organization for the welfare of persons with inflammatory bowel disease in India. He is due to graduate in 2023 from the Department of Aerospace Engineering at the Indian Institute of Science, where he is a graduate research student working on computational aerodynamics. He was a 2020 International Fellow for the Crohn’s and Colitis Young Adults Network where he was involved in digital advocacy efforts for persons with inflammatory bowel disease all over the globe. Nikhil was also one of the 2021 Soapstone Fellows at Enable India, where over a period of one year, he acquired an enhanced perspective on the livelihood of persons with disabilities.Nikhil lives with Crohn’s Disease, and an ileostomy.

Svenja Kaden studied biology in Germany, then moved to Switzerland to do a PhD in life sciences and subsequently worked in basic research and pharmaceutical industry. In 2016, her daughter Caroline was born with a mutation in the SCN2A gene. This completely changed her life. Her daughter lives with intractable epilepsy and she is severely disabled. The first years were difficult with many critical situations, inspiring Svenja to work for progress in the SCN2A field. Svenja co-organised the first SCN2A/SCN8A conference in Europe in 2020 and founded the association SCN2A Germany in 2022 together with other parents. Her great wish is to improve the quality of life of SCN2A patients and to support the affected families so that they have the strength to take care of the many concerns of their children.

Born in Mexico City, I immigrated to the US in 2001. I have 3 children Andy 23, Sofia 18 and Tania 13. We moved to Boston as a last resort to find a diagnosis and treatment for my son Andy at Boston Children’s Hospital. Caring for my son taught me how to be a patient advocate, he had a rare disease called NEMO which is a form of primary immune deficiency. I wrote a book about our family journey and sometimes I get asked to give talks about the story. (Book website: www.andysofia.org). I am a certified storytelling coach by LivingProof Advocacy. A certified major gifts fundraiser by the Assoc. of Healthcare Philanthropy. I started the Latino philanthropic initiative by Boston Children’s Hospital to support the hospital titled “Milagros para Niños”. My passion is helping others with rare diseases and I consider it a privilege to learn from people with rare diseases and develop adequate independent relationships with patient leaders based in respect and trust. After spending 1,000 days in the hospital with my son, I like to build empathy, listen to their stories of how they deal with life altering health conditions.

Devra Densmore has over 15 years’ patient advocacy and community engagement experience in the non-
profit, hospital, agency and biotech industries. She has led patient advocacy and engagement throughout every phase of a product’s lifecycle in over 20 diseases, including rare central nervous system and renal disorders. She has extensive experience forming global advisory councils, facilitating advisory boards, and connecting hard to find patient populations. Devra holds a Master of Public Affairs from the Evans School of Public Policy and Governance.

Gabi Conecker, MPH is Executive Director and Co-Founder of Decoding Developmental Epilepsies, improving the lives of rare epilepsy families by collaboratively implementing cutting-edge programs and research. Gabi began working in rare diseases when her son Elliott was diagnosed with a rare genetic epilepsy, SCN8A, in 2014. With nothing known about the disorder, she mobilized and brought together—for the first time—global researchers and clinicians to collaborate on finding better treatments and improving the quality of life for those with SCN8A. Scientific meetings have grown to include cross-disease collaborations and innovations. As the mother of a child severely affected by a rare epilepsy, she co-founded DEE-P Connections, a collaborative project of 40+ partners providing comprehensive resources and support to families impacted by rare epilepsies. With precision medicine on the horizon, she wanted to ensure that children like her own (never measured by traditional scales) could be included in clinical trials. This led to The Inchstone Project, a multidisciplinary group of caregivers, researchers, clinicians and industry collaborating to accelerate outcome measures development so ll abilities can be meaningfully captured.

Nasha Fitter is a leader in the rare disease space through her work on utilizing real world evidence to accelerate treatments at Invitae. She is also the mother of a child with the rare neurological condition, FOXG1 Syndrome, and co-founded and leads the FOXG1 Research Foundation. Nasha serves on the board for the ACMG Foundation for Genetic and Genomic Medicine and has an MBA from the Harvard Business School.

Prof. Tjitske Kleefstra is a clinical geneticist dedicated to study underlying mechanisms and clinical consequences of genetic neurodevelopmental disorders (NDD). Her main focus is on the ‘Kleefstra syndrome’ and its causative gene EHMT1, but she has defined substantial additional syndromes through various (inter)national medical-neuroscientific collaborations such as the DDX3X-related disorder. She has founded the Radboudumc expert center for rare genetic neurodevelopmental disorders which is a formal Health Care Partner (HCP) in the EU reference network ITHACA. As of March 1 2023, she is appointed Head of the Department in Clinical Genetics at ErasmusMC Rotterdam which is also formal HCP in ITHACA. As executive board member and chair of the working group on NDD, she closely participates both with professionals and with Patient Advocacy Groups. She therefore is excellently positioned to implement fundamental research findings and studies tightly linked to the patients in a global network.

Patricia Koochaki is a Principal in ICON’s Patient Centred Outcomes (PCO) team with >30 years’ experience in outcomes measure development. Prior to ICON, Pat was a Principal Scientist at a multinational consumer goods corporation, conducting research in pharmaceuticals, consumer healthcare, and pet health/nutrition.At ICON Pat has led research in many therapeutic areas, including rare diseases, women’s health, rheumatology, oncology, and immunology. She has expertise across a wide variety of qualitative and quantitative methods applied to all phases of clinical outcome measure development. Using her toolbox of methods to help patients articulate their experiences to achieve better outcome measures is central to her approach to research.

Pat earned a BA in Chemistry and PhD in Biochemistry, from University of Cincinnati, College of Medicine, and was a Postdoctoral Fellow and Associate Professor of Chemistry at University of Cincinnati. Pat integrates her deep technical understanding with her passion for patient-centered research.

Tanja Zdolsek Draksler, PhD is working as a project manager at the Jožef Stefan Institute, a public research organisation in Slovenia (Central Europe). She holds a university degree from the Faculty of Electrical Engineering and Computer Science and a PhD from the Faculty of Economics and Business, University of Maribor. In 2021 she started collaborating with IDefine (USA), building together the Kleefstra syndrome global community. Kleefstra syndrome is a rare genetic disorder that her daughter has. In 2022 she founded IDefine Europe, a non-profit NGO with 2 streams: advocacy for Kleefstra syndrome & research activities around data, data science and AI in relation to rare diseases in general. She connected the Kleefstra syndrome organisations across Europe under the “Kleefstra syndrome Europe Alliance”. She is the ePAG of ERN ITHACA (European reference network for rare malformation syndromes and rare intellectual and neurodevelopmental disorders), that brings together clinicians and patient representatives.

Patti Murphy has 25 years in clinical research in academic, pharmaceutical industry, and CRO settings. Formerly, she led a clinical development program for lemborexant (dual orexin receptor antagonist) for insomnia from Phase 1 through NDA filing.Therapeutic expertise in disorders of sleep and circadian rhythms, rare disease indications including metabolic disorders and pediatric neurology.

Rigoberto “Rigo” Garcia, is the Executive Director of the Hemophilia Foundation of Southern California based in Pasadena, CA. He brings over 19 years of experience in health education, leadership and outreach and a commitment to ensuring marginalized groups are provided primary care access.Most recently, Rigo has been the Director of Health Education for the Venice Family Clinic, an organization that works to provide quality primary health care to people in need. In this role, he created and managed one of the largest community clinic food distribution programs in Los Angeles County. In this role, he further developed and executed Venice Family Clinic’s first ever Doula Services Program providing free doulas for support to a mother through labor and delivery.

The Hemophilia Foundation of Southern California is an award-winning nonprofit and the leading resource to provide support for those affected with rare, inheritable bleeding disorders in Southern California. With offices based in Pasadena, the foundation was founded in 1954.

Veronica Moore has over 15 years of experience in the rare disease arena spanning from patient advocacy, patient engagement/recruitment, and health equity. Veronica is a Sr. Manger of Patient Advocacy at Horizon Therapeutics. In her role, she is responsible for developing mutually beneficial relationships with patient organizations for Thyroid Eye Disease (TED) and leading health equity initiatives as well. Veronica currently serves a research advisor at Duke University, along with a host of rare disease nonprofit organizations that are focused on health equity among the rare disease community. Previously, she served as a Senior Global Patient Advocacy Lead at IQVIA and National Program Manager for the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC), which is an active member of the Rare Disease Clinical Research Network (RDCRN). Veronica holds a B.S. in Public Health Studies from East Carolina University and a M.A. in Sociology from North Carolina Central University.

Zo Ratansi is a co-founder of Sixsense Strategy Group, a boutique consultancy and medical communications firm that is focused on supporting life sciences clients in bringing new and innovative therapies to patients with life altering conditions including rare diseases. Zo is a thought-provoking business leader with a gift for strategy. He has worked extensively with Patients, Patient Advocacy Groups, Caregivers and Healthcare Providers to ensure that their voice is incorporated into the launch strategy for Clients. Spending time with his family,
experiencing new adventures and creating memories is most important to Zo.

Tricha Shivas joined the Foundation for Sarcoidosis Research (FSR) in December of 2020 as the Chief Strategy Officer. Tricha almost 20 years of non-profit leadership experience dedicated to improving the lives of those with complex chronic illness and rare diseases. Throughout her career, she has built comprehensive patient engagement and awareness programming, developed robust diversity, inclusion, and equity programming, worked with the NIH, FDA, academic researchers, and industry to expand therapeutic pipelines and to increase patient
centricity in drug development.Tricha received her bachelors in American Studies from Albright College and her Masters of Bioethics from University of Pennsylvania. She currently serves on Drexel University’s Health Administration Department Advisory Council, as Co-Chair of the NIH NIAMS Coalition, and Global Skin’s Rare Disease Steering Committee.

Sarita Edwards is the CEO & President at the E.WE Foundation, a healthcare advocacy organization supporting families with Edwards Syndrome (Trisomy 18) and other rare diseases. Sarita’s son Elijah was diagnosed in utero with Full Trisomy 18 which began her efforts of advocacy and public policy. Sarita is recognized as a world’s top patient expert and social health ambassador. She is an award winning advocate, global speaker, and host of the Being Rare Podcast. Sarita has a Bachelor of Science in Health Science and is a candidate for her Masters in Healthcare Administration. Sarita lives in North Alabama with her husband Kareem and their five children.

Ryan Sheedy is a Dad, Rare Disease Caregiver and Founder. He lives in Bentonville, AR with his wife and 3 sons.
In 2018, after 15+ years in Business Development and Fundraising he “retired” early to become a Stay at Home Dad/Caregiver for his twin sons.One of his sons, Reynolds was diagnosed with Costello Syndrome in 2018. Since birth Ryan has been Reynolds’ primary caregiver (100+ days in the NICU, countless surgeries and managing a 25+ person care team). He and his son’s rare journey and the countless families they have met along the way inspired him to create mejo.

mejo (short for ‘me journal’) is a web app that provides parents and caregivers with a better way to simplify, organize and share their child’s most important medical & care information. Simple and easy to use, mejo helps caregivers save time and gain peace of mind by organizing their loved one’s information into easily digestible views that can be securely shared in a click. Adored by users, loved by providers and endorsed by numerous rare disease organizations, mejo is built for caregivers by caregivers to save them time, money, and bring their families joy! He’s on a mission to start Putting me back in medicine.

Deborah F Gelinas, MD, is a Clinical Director of Neuromuscular Medicine for argenx Medical Affairs. She also serves as Associate Professor in the Department of Neurology at UNC, Chapel Hill where she actively sees patients in the Amyotrophic Lateral Sclerosis multidisciplinary clinic. After earning her medical degree from New York Medical College in Valhalla, NY, she completed her residency in neurology at the Letterman Army Medical Center in affiliation with the University of California, San Francisco. She is Board-certified in Neuromuscular Medicine and a diplomate of the American Board of Psychiatry and Neurology. Prior to joining Industry, she was on Faculty at Michigan State University College of Human Medicine and was the Clinical Neuroscience Research Director at Mercy Health Saint Mary’s in Grand Rapids, MI and the Director of the ALS and MDA Centers. A principal investigator for many sponsored research projects relating to neurologic disorders, she has co-authored multiple publications involving ALS, MG and CIDP in peer-reviewed journals including Neurology, the Journal of Neuroimmunology, and the Journal of Palliative Medicine. A veteran of the Army Medical Corps, she has received the Army Achievement Medal, the Army Commendation Medal, and the Meritorious Service Medal.

After receiving requests to form a support group for Fabry patients FSIG was formed in 1996. Through this “kitchen table” support group FSIG strives to provide benefit to others affected by Fabry disease. As a nonprofit organization FSIG helps raise awareness of Fabry disease and its symptoms, its impact on females and provides a much needed advocacy link between patients and family members to physicians, researchers, the pharmaceutical industry and regulatory authorities. FSIG offers a wide range of services needed by the Fabry community. Jack has also participated in clinical trials, on a disease registry board and contributed to a number of published papers as well as a book about Fabry disease.Jack also serves as Vice President, Americas and Global for the Fabry International Network (FIN). FIN is
an international volunteer organization comprised of leaders from Fabry support organizations from all over the world.

Ray Kaczmarek is Senior Director of Operations in Real World Solutions with more than 30 years of experience overseeing global Phase II-IV interventional and non- interventional with emphasis on global expanded access programs. Responsibilities include general oversight of projects with varying study designs, such as disease and product registries, open-label extension, long-term safety studies and designing expanded access programs. Ray currently maintains nursing licensure in the state of Pennsylvania an prior to clinical trials, worked as an oncology nurse.

With 11+ years clinical research and drug development experience, including 7 years managing complex rare disease trials for Biotech companies, Afshawn has extensive experience strategically impacting clinical trials in all global geographic regions, including the Middle East. Her therapeutic areas of expertise include cardio-metabolic diseases, hematology, hepatology, and pulmonology.

Ashmee Bharadia is Vice President for Accellacare In Home Services and SiteResourcing, part of ICON plc. She started her career with companies in the Pharma and Biotech industry in progressive roles from CRA to Project Management covering Respiratory,Immunology, Infectious, Dermatology and Neurology. She moved to ICON in 2011working within the largest strategic account in various Project Management roles.In 2016, Ashmee moved to a leadership position within a small CRO focused ondeveloping the Project Management group and gained experience working withinnovative start up and biotech companies. Ashmee also established a new groupfocused on Strategic Business Optimization, Technology implementation, and Globalprocess improvements working with the corporate and operational leadership. Shealso gained qualifications in Lean Six Sigma and Change Management. Ashmee holds a BSc (Hons) in Pharmaceutical Chemistry from Queen Mary,University of London.

Sneha Dave graduated from Indiana University in May 2020 where she majored in chronic illness advocacy as well as journalism. She created Generation Patient and its program the Crohn’s and Colitis Young Adults Network (CCYAN) to develop support systems for adolescents and young adults with chronic conditions across the U.S. and internationally. She is proud to work with a team composed entirely of young adults with chronic conditions and also to keep Generation Patient and CCYAN independent from the pharmaceutical and insurance industries. Sneha has completed an undergraduate research fellowship in health policy at Harvard T.H. Chan School of Public Health. She has also interned at numerous places such as Pfizer in health economics and outcomes research for Inflammation and Immunology. Sneha has spoken on Capitol Hill, featured nationally on C-SPAN, and is a past contributor for U.S. News and World Report. She has served on the Democratic National Committee Disability Policy Subcommittee and recently joined the Midwest Comparative Effectiveness Public Advisory Council, an independent appraisal committee of the Institute for Clinical and Economic Review. She also serves on the FDA Patient Engagement Collaborative and in a grantmaking committee with the Robert Wood Johnson Foundation. Sneha was awarded two academic fellowships with the Association of Health Care Journalists. For her work, she was selected as one of the most influential teenagers in 2018 by the We Are Family Foundation and was recognized as an American Association of People with Disabilities Emerging Leader in 2020.

Craig Lipset is an advisor, educator, advocate and innovator focused on novel solutions for clinical trials and medicine development. He is the founder of Clinical Innovation Partners, providing advisory and board leadership with pharma, tech and investors. Craig is Co-Chair for the Decentralized Trials & Research Alliance and Vice President of the Foundation for Sarcoidosis. He is Adjunct Assistant Professor in Health Informatics at Rutgers University, and serves on the Advisory Council for HL7 Project Vulcan and External Stakeholder Board for IMI Trials at Home. Craig was previously the Head of Clinical Innovation and Venture Partner at Pfizer, and on the founding management teams for two successful startup ventures.

Katie Wright was diagnosed with VEDS (Vascular Ehlers-Danlos Syndrome), a life-threatening genetic connective tissue condition, in 2017 at 28 years old. The barriers she experienced on her road to diagnosis inspired her to advocate for others with VEDS, raise awareness for the condition, and participate in research. In 2019, she joined The Marfan Foundation full-time to start a division for VEDS, now known as The VEDS Movement, with a mission to save lives and improve the quality of life of individuals with VEDS. Katie started a YouTube channel, a podcast called Staying Connected, where she interviews others affected by VEDS, and served on the Advisory Board for the VEDS Collaborative.

ICON

ICON is the world’s leading clinical research organisation, powered by healthcare intelligence. From molecule to medicine, we advance clinical research providing a comprehensive suite of outsourced development and commercialisation services to pharmaceutical, biotechnology, medical device and government and public health organisations. We develop new innovations, drive emerging therapies forward and improve patient lives. Our outsourcing models can be adapted to suit small local trials to large global programs, including full service, standalone services, FSP and full asset development.

With headquarters in Dublin, Ireland, ICON employs approximately 41,150 employees in 113 locations in 53 countries.