Congratulations to the 2023 RARE Champions of Hope

July 19, 2023

The RARE Champions of Hope Awards celebrate, honor and recognize those in the rare disease community who are raising the bar through their innovative approaches to research, programming and advocacy to create meaningful impact in the rare disease space. Awardees are beacons of hope in the rare disease community who lean in, take risks and lead collaborative efforts to positively impact the lives of rare disease patients, caregivers and families across the globe. 

In 2023, the Community nominated 104 individuals and organizations across three categories. The winners this year are: 

RARE Champion in Advocacy

This award recognizes an individual or organization who has created innovative programming and/or successful partnerships to support, educate, research or enable their communities in meaningful and impactful ways. 

Dr. Marjorie Dejoie-Brewer

Dr. Marjorie Dejoie-Brewer currently holds the position of Medical Director of Hemoglobinopathies in Global Medical Affairs and Global Strategist at Vertex Pharmaceuticals and Medical Director for the Sickle Cell Association of Delaware. She serves as Co-Chair of the Mental Health and Wellness initiative for the Sickle Cell Consortium, a consultant to SCDAA , an ambassador to SICK cells, co-chair of the Bridging the Gaps Alumni Network and group leader for Meditation for Leadership. Prior to that she held the position of Director of Patient Advocacy for Global Product Development in Rare Disease at Pfizer and Clinical Research Outreach Liaison for Hydroxyurea and Transition at the Children’s Hospital of Philadelphia. Her groundbreaking work as a primary medical consultant for the Mayor’s “Fun, Fit, and Free” program, a key part of the Mayor’s Commission for Health, Fitness and inclusion, allowed her to apply her training in medicine, exercise physiology, and alternative medicine in an integrative, community based, preventative format with the primary goal of making Philadelphia a healthier city. From there, she molded a career in Functional Medicine, which utilizes a fusion of the principles of medicine, prescribed exercise, bio-psychosocial elements, stress reduction, nutrition, yoga and alternative medicine in the holistic treatment and care of patients with rare diseases and clients. Herself a patient of Sickle Cell Disease (SCD), Dr. Dejoie is a firm proponent and practitioner of comprehensive and preventative health and wellness planning. This became the mission behind her consulting firm “M.A.D. fit” established in 2002. Building on this foundation, Dr. Dejoie opened a wellness center, “Bonne Santé” in the fall of 2003. She is a passionate advocate for individuals living with rare diseases and dedicates herself to making this world a better place by making it healthier, one person at a time.

RARE Champion in Industry

This award recognizes partners from biopharma who have demonstrated exceptional partnership in the rare disease space, launched innovative programming or pioneered new processes for engaging the patient community. Nominations in this category should include concrete examples and metrics to indicate what the initiative was, how it was successful and the impact it had on those being served.

Amy Grover

Amy Grover, Senior Director of Patient Advocacy at Catalyst Pharmaceuticals, is a passionate patient advocate.  Having served the rare disease community at Global Genes for 10 years, Amy worked closely with patients and their families and patient organizations.  Amy has provided extensive guidance, connections and strategic direction to the rare disease community and is dedicated to driving positive change.  Amy joined Catalyst Pharmaceuticals in 2018 and ensures the patient voice is well represented within the company.  Amy is responsible for the development of patient focused solutions and addresses unmet needs in the communities they work in.  When not serving the rare disease community, Amy is a dedicated mother of four amazing young adults, a wife of 31 years and above all, a fierce San Francisco 49er fan.  Go Niners!

RARE Champion in Research

This award recognizes trailblazers and leaders in rare disease research, drug development and scientific processes who have taken an innovative approach to advance outcomes for the rare disease community. Nominees in this category should be conducting patient-driven research, research in academia or research within an advocacy organization.

Helen Leonard, MBChB MPH

Areas of research expertise: Child disability; intellectual disability; autism spectrum disorders; Down syndrome; Rett syndrome; CDKL5 disorder; MECP2 Duplication syndrome; rare diseases; pre-term birth

Dr Helen Leonard has qualifications in medicine and public health.  She is a Principal Research Fellow at the Telethon Kids Institute in Perth, Associate Professor at The University of Western Australia and has received two Australian NHMRC Senior Research Fellowships.

For twenty years her clinical practice primarily involved the management of children and adults with intellectual disability. Working in this role she saw the major need for epidemiological, clinical and multidisciplinary research in this area. Consequently, she established a population-based intellectual disability database in Western Australia, which, with its linkage to other WA population-based databases, is providing extremely valuable ongoing research output. She is also a member of an exciting and innovative autism registry collaboration, which was established with funding from the US National Institutes of Health as a “virtual and global” Autism Centre of Excellence and which has the infrastructure to undertake pooled analyses of international data comprising over 2.5 million births and nearly 34,000 cases of autism.

In 1992 she set up the internationally unique population-based Australian Rett Syndrome Database and has maintained this register since that time. In 2002 she launched the International Rett Syndrome Foundation Phenotype Database, InterRett and in 2012 the International CDKL5 Disorder Database. More recently she has mentored one of her PhD students in the establishment of an international MECP2 Duplication Database.

Helen’s research has mainly centered around child disability but has been broad in scope covering both common and rare conditions and using rigorous epidemiological methods including cohort studies to describe prevalence, incidence, life expectancy and natural history as well as qualitative methods, where applicable, to explore impacts for those affected and their families. She also has an interest in perinatal epidemiology, initially developed because of the association between perinatal factors and the developmental outcomes of the offspring but now expanded to include topics such as preterm birth, stillbirth and interpregnancy intervals, all of which have been investigated using population-based linked data. Her program of research and output remain on an upward trajectory with 340 publications since 1998, 30 since early 2022. Her articles are well cited (e.g. total citations 12,642 with 1512 in 2022 (Scopus)) and an h-index of 61.


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