1. Can you tell us about your professional background and your goals for Global Genes as the new CEO?
I’ve spent my career building organizations at the intersection of data, technology, and life sciences, and was previously CEO of RARE-X and Chief Business Officer at Fabric Genomics. I also co-founded the STXBP1 Foundation following my daughter’s rare genetic disease diagnosis. My personal and professional journey have led to my role as CEO with Global Genes.
A key insight that came about during the merger of Global Genes and RARE-X this past December is that advocacy has fundamentally changed in the last 10-15 years. We are calling this new approach to advocacy "next generation advocacy” and that is a large part of our focus as an organization going forward. These next generation advocates possess a growing sophistication about the drug development process while technological advances continue to transform the rare disease landscape. The integrated organizations now have a unified set of goals in serving the next generation advocate.
2. How does Global Genes collaborate with communities, patients, caregivers and other stakeholders to create opportunities for progress in rare diseases?
As a non-profit advocacy organization, we can create collaborative ecosystems, keeping the advocate in the center as a driver of progress. Programs like the Global Advocacy Alliance and RARE-X, and events like RARE Drug Development Symposium bring together disease communities, patients, caregivers, and other stakeholders in a collaborative environment where no one voice overpowers the others. We encourage networking throughout Global Advocacy Alliance members and at events like the RARE Drug Development Symposium, because often, even if they are affected by different conditions, they still have many similar needs and lessons learned as they drive forward advocacy, community building or therapeutic development.
Patients and families have a tremendous sense of urgency to drive progress in rare diseases, so they are often the primary drivers to advance research and therapeutic development. At the same time, collaboration is critical in rare disease, and progress cannot happen in a silo. There are so many steps in the process, from basic research to translational to pre-clinical, to clinical trial. You need all of the stakeholders involved in the process to realize any type of success.
As a parent of a child with a rare disease, I absolutely agree that it’s frustrating to realize that in addition to caring for your child, and trying to do all of the things that you need to do in life, that you also have to take up this additional advocacy work. I think that for parents who decide to do it, and have the capacity to do it, it can really be transformative for the roadmap for their disease.
3. What are the critical gaps and unmet needs that Global Genes focuses on in the field of rare diseases?
We are here to enable and empower advocates. Gaps and unmet needs exist due to the rarity of individual diseases - there are now over 10,000 rare diseases – and nobody else has the high level of motivation other than patients and advocates to drive the change.
Global Genes is committed to supporting patients and advocates to take part in and drive research and drug development. Through the RARE-X Data Collection Program, patients and families can take part in a novel, collaborative approach to accelerate research, improve understanding of rare diseases, and decrease diagnosis times.
Through the new RARE-X Research Readiness Program, patient advocacy groups connect with key researchers, clinical advisors and members of the Global Genes Scientific Advisory Board with the goal of developing a landscape assessment of the current state of research and actionable steps to progress research in a specific rare disease.
4. Could you provide more information about the programs and initiatives Global Genes has developed to address inequities and gaps affecting rare disease patients?
Each of the main pillars that Global Genes provides services and information, Support, Education, and Research & Development, incorporate ways to address inequities that exist in rare disease diagnosis, drug development, and access to care.
This will be the third year that Global Genes has hosted the Health Equity Forum (previously known as the Health Equity Summit). This year’s event will provide attendees with actionable tools and strategic insights to support underserved and/or underrepresented patients within their community.
Know Your Family History is a family history campaign that Global Genes launched last year. The initiative focuses specifically on communities of color where family history is often unknown or overlooked for a variety of reasons. Talking about family health history, and encouraging genetic testing within these communities can help to close gaps in health inequities.
In addition to our main strategic focus on health equity through events like Health Equity Forum, Global Genes also offers personalized support and patient navigation through the RARE Concierge Patient Services Program. RARE Concierge includes supportive resources for BIPOC and LGBTQIA+ communities, specifically related to health programs, medical providers, community connections, mental health support and financial support.
The Health Equity in RARE Impact Grant program provides patient advocacy organizations who are Global Advocacy Alliance members an opportunity to improve outreach strategies, develop content, and address challenges that affect underserved and underrepresented people within the rare disease patient community. Since the grants were first offered in 2021, advocacy organizations who received the grant have trained patient ambassadors in underserved communities, increased and added outreach efforts to provide education in communities of color, and translated materials and websites to other languages to reach a wider audience, among many other projects.
5. How does Global Genes work with the Rare Disease Diversity Coalition and other organizations to promote equity and diversity in rare disease research and care?
Global Genes and Rare Disease Diversity Coalition have collaborated to present the Health Equity Forum over the last three years. Last year, Global Genes and the Rare Disease Diversity Coalition launched the Know Your Family History campaign in partnership.
In addition, Global Genes has several team members that serve in Rare Disease Diversity Coalition’s working groups, including Shruti Mitkus, who is co-chair of the Delays in Diagnosis Working Group; Rachel Barron, serving in the Provider Education & Engagement Working Group; and Maria Della Rocca, who serves in the Diversity in Research & Clinical Trials Working Group.
6. How has the "RARE Compassion Program" contributed to educating medical students and inspiring them to pursue careers in relevant specialty areas?
The RARE Compassion Program provides an opportunity for medical students to learn about the unique needs and challenges individuals and their families face living with an undiagnosed or rare disease. The program offers students a chance to build compassion, understanding, and empathetic communication skills, and gain interest in specializing in fields most relevant to rare disease. By reaching the students while they are in medical school, the RARE Compassion Program opens the future doctors to specialties that they may not have previously considered once they have learned more about rare disease. The program is open to students and patients worldwide.
7. What are the remaining challenges in the field of rare diseases, particularly in terms of diagnosis and access to treatments?
There are still so many challenges that the rare disease community faces. We need greater access to genetic testing and newborn screening with more conditions included and available in more geographic regions. Clinical trials are traditionally offered only at research centers, and more of these clinical trials need to be more accessible, such as being offered closer or in the patient’s home.
The average time to diagnose a rare disease is seven years, and the time between presentation of symptoms to treatment can make a significant difference in many rare conditions. Through programs like the RARE Compassion Program, we hope that more providers are aware of the variety of rare diseases that may come through their offices and hospitals.
Lastly, every year, geneticists and researchers are identifying more genetic mutations within rare diseases and n-of-1 conditions. Then of course, is the fact that only 5% of rare diseases have a cure or treatment, so what about the remaining 95%?
8. Is there anything that you would like to promote to our readers? (Any upcoming initiatives / webinars, conferences etc.)
Global Genes will be hosting Week in RARE** September 18-21, 2023, combining the RARE Health Equity Forum and RARE Advocacy Summit. This will be a unique opportunity to gather and engage rare disease advocates and leaders in the same space for conversation. In addition, guests have the option to attend the RARE Champions of Hope awards ceremony and annual membership meetings for Global Advocacy Alliance and RARE Corporate Alliance if they belong to either.