Phil Buta
Executive Director
Phil joined the MED13L Foundation because he was moved by the strength and determination of the families who make up this community. He focuses on supporting families, building partnerships, and helping drive the research needed to better understand MED13L Syndrome and improve the lives of those affected by it.
Phil has worked in nonprofit leadership for more than 20 years, with roles at Catholic Charities of the Archdiocese of Chicago, the Pritzker Military Museum & Library, and Healthcare Alternative Systems. Much of his career has been spent helping organizations grow, strengthening donor relationships, and advancing programs that make a real impact.
He holds a BA from the University of Illinois and an MA from Michigan State University, and he is a Certified Fund Raising Executive (CFRE). Phil is proud to be part of the MED13L Foundation and to support the work being done on behalf of families and individuals living with MED13L Syndrome.
Ricardo N. Ramirez, PhD
Chief Scientific Officer
Ricardo N. Ramirez, is a genome and data science leader with deep expertise in epigenetics, computational biology, immunology, and gene-editing technologies, bringing together discovery science and translational strategy to advance precision therapies for rare disease.
He earned his PhD at the University of California, Irvine, where he integrated epigenomic profiling and computational modeling to map gene-regulatory networks governing human myeloid differentiation, contributing to both the ENCODE and STATegra consortia. He then completed a postdoctoral fellowship at Harvard Medical School, focusing on adaptive immunity and regulatory T cells, where he demonstrated how 3D chromatin architecture controls lineage-specific gene expression through the master regulator FoxP3 as part of the ImmGen consortium.
Ricardo later joined a Boston-based biotech company as Data Science Lead, directing genomic specificity and safety strategies for next-generation epigenetic medicines advancing toward the clinic. This work placed him at the intersection of discovery biology, regulatory science, and therapeutic development.
He is the founder of a data science consulting practice RNR Consulting LLC, that partners with biotech companies and nonprofit foundations to drive drug discovery, computational modeling, and multi-omic data integration. Through his early collaboration with COMBINEDBrain, Ricardo recognized the power of patient-driven science in accelerating cures for rare disorders.
As Chief Scientific Officer for the MED13L Foundation, Ricardo leads investigational research and preclinical strategy to advance viable therapies for those affected by MED13L syndrome. With a deep value to providing effective leadership, he is equally committed to serving families—bridging science, lived experience, and advocacy to unite researchers, clinicians, and caregivers. By centering family voices alongside scientific rigor, Ricardo helps ensure that research efforts remain aligned with real-world needs and focused on delivering meaningful impact for the MED13L community.
Alicia Campbell
PhD Candidate in Molecular Cell Biology & Neuroscience
Rowan Virtua Health College of Medicine & Life Sciences, Stratford, NJ
Alicia Campbell earned a Bachelor’s in Biochemistry and Molecular Biology from Penn State University and is completing a PhD in Molecular Cell Biology and Neuroscience at Rowan University, with graduation anticipated in Spring 2025. Her research focuses on understanding the role of mitochondria in MED13L Syndrome, investigating how specific MED13L mutations impact mitochondrial health and energy production. Using 12 skin cell lines collected from individuals with varying symptoms at Columbia University in 2022, she is exploring whether certain mutations result in more severe mitochondrial pathologies. Alicia is also repurposing FDA-approved drug therapies to target mitochondrial health, aiming to translate her findings into clinical applications.
Director of Research and Community Engagement
Rachel Heilmann serves as the Director of Research and Community Engagement for the MED13L Foundation, where she combines her extensive background in clinical pharmacy with her deep commitment to advancing research and building connections within the MED13L community.
Rachel obtained her Doctorate of Pharmacy from West Virginia University, completing two years of pharmacy residency training. Her professional career spans Primary Care and Endocrinology, including her role as a Pharmacy Manager in a large healthcare system.
In 2022, following the loss of her daughter to NARS1, a rare neurodevelopmental disorder, Rachel transitioned into the rare disease research space, completing a research fellowship with COMBINEDBrain. During her fellowship, she began collaborating with the MED13L Foundation, drafting its first Strategic Research Plan—a cornerstone for guiding the Foundation’s research priorities. This plan will be featured in an upcoming publication she is authoring, slated for release in early 2025.
Rachel has been instrumental in identifying research gaps for MED13L Syndrome, reaching out to researchers to initiate groundbreaking studies. She spearheaded the launch of the MED13L patient directory with RARE-X and has hosted numerous informational sessions to educate and empower families affected by MED13L. Her leadership fosters a stronger connection between the MED13L Foundation and its community, researchers, and clinicians.
Beyond her work with the MED13L Foundation, Rachel is the founder of The Rory Belle Foundation, honoring her daughter’s legacy by advocating for children with neurodevelopmental disorders. Her dedication and expertise continue to shape a brighter future for the MED13L community and beyond.
PhD Candidate in Molecular Cell Biology & Neuroscience
Rowan Virtua Health College of Medicine & Life Sciences, Stratford, NJ
Alicia Campbell earned a Bachelor’s in Biochemistry and Molecular Biology from Penn State University and is completing a PhD in Molecular Cell Biology and Neuroscience at Rowan University, with graduation anticipated in Spring 2025. Her research focuses on understanding the role of mitochondria in MED13L Syndrome, investigating how specific MED13L mutations impact mitochondrial health and energy production. Using 12 skin cell lines collected from individuals with varying symptoms at Columbia University in 2022, she is exploring whether certain mutations result in more severe mitochondrial pathologies. Alicia is also repurposing FDA-approved drug therapies to target mitochondrial health, aiming to translate her findings into clinical applications.
Dedicated volunteers
Regional Ambassadors
Katie Johnston
Mid-Hudson Valley, NY, USA
Texas/Plains, USA
Durham, NC, USA/Brasil
Northeast, US 15+
Canada
Germany, Europe
Midwest, US
