In our latest "Women in Science" feature, Gabriele Mura (DC7) highlights some of the most influential women who have shaped the field of gene therapy
- GET-IN
- Aug 1
- 5 min read
In our latest "Women in Science" feature, Gabriele Mura (DC7) highlights some of the most influential women who have shaped the field of gene therapy with their groundbreaking contributions.
Katherine A. High - Pioneer in Gene Therapy and Translational Medicine
Katherine High is a renowned hematologist and gene therapy pioneer and emeritus professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania. She earned an A.B. in Chemistry at Harvard College and an M.D. in Medicine from the University of North Carolina at Chapel Hill. Later, she obtained a fellowship in hematology at Yale University.
In the early stages of her career at the University of North Carolina and later at the Children's Hospital of Philadelphia (CHOP), Prof. High focused on developing gene-based treatments for hemophilia. At a time when gene therapy was still largely theoretical, she persevered through early experimental setbacks, convinced that technology could change the future of medicine.
Her pioneering work led to the development of gene therapies for hemophilia A and B, achieving long-term expression of missing clotting factors in patients. In 2013, Prof. High co-founded Spark Therapeutics, where she led the development of Luxturna—the first FDA-approved gene therapy for a genetic disease, approved in December 2017, aimed at treating a rare form of inherited childhood blindness (RPE65-mediated retinal dystrophy).
Throughout her career, Prof. High has emphasized not just discovery, but also translation, ensuring that laboratory breakthroughs are delivered to patients in the clinic. Her leadership helped pave the way for gene therapy’s transition from experimental science to recognized, life-changing treatment. She has also mentored and inspired a new generation of researchers dedicated to advancing gene-based medicines.
Her achievements have been recognized worldwide, including her election to the National Academy of Sciences (US) and the National Academy of Medicine (US). Katherine High continues to make a significant impact in the field of genetic medicine, bringing new hope to countless patients with rare and previously untreatable diseases. She currently serves as CEO of RhyGaze, based in Philadelphia.
“I’ve worked on hemophilia for so long, and one of the most satisfying things to me was when we had our first patient enrolled in a trial begin to show signs of improvement.”
Emmanuelle Charpentier – Revolutionizing Genetic Medicine through CRISPR Technology
Dr Emmanuelle Charpentier’s career has been defined by her innovative approach to molecular biology and genetic research. After studying biochemistry, microbiology, and genetics at the University Pierre and Marie Curie in Paris, she embarked on a scientific journey that would take her to some of the world's top research institutions, including the University of Vienna and the Max Planck Society in Germany. Her early work focused on microbial genetics and the mechanisms of bacterial immunity, laying the foundation for her future breakthrough discoveries.
In 2012, Dr Charpentier, in collaboration with Dr Jennifer Doudna, demonstrated that the bacterial CRISPR-Cas9 immune system could be harnessed as a programmable tool for genome editing in vitro. This revolutionary technology, which enables precise modifications to DNA, has quickly become one of the most powerful tools in biotechnology. Their research opened new doors for genetic therapies, cancer treatments, and disease prevention, fundamentally changing how scientists approach genetic disorders.
Dr. Charpentier’s pivotal discovery has revolutionized the field of genetics, empowering researchers and clinicians to edit genes with unparalleled accuracy. This has led to the development of potential treatments for genetic diseases such as sickle cell anemia, cystic fibrosis, and even cancer, among others. The impact of CRISPR-Cas9 has been profound, making it a cornerstone of modern genetic medicine.
In 2020, Charpentier’s groundbreaking work earned her the Nobel Prize in Chemistry, which she shared with Dr Doudna, marking a historic first as the first female duo to win the award in this category. This honor recognized not only their scientific contributions but also their leadership in advancing genetic research and its clinical applications. As the director of the Max Planck Unit for the Science of Pathogens in Berlin, Charpentier continues to drive research in genetic engineering, mentoring young scientists and shaping the future of genetic medicine.
“This is not about a paper published in Nature or published in Science. [...] It’s about solid work. You need time to do the work in a proper way, in a deep way, and I want to mention this because I would not like to see science having lost this sense.”
Maria Grazia Roncarolo – Innovator in Gene Therapy and Immunology
Dr Maria Grazia Roncarolo is a leader in the field of immunology and gene therapy, with a career dedicated to advancing treatments for genetic and immune disorders. After earning her M.D. from the University of Turin, she moved to Lyon, where she specialised in severe inherited metabolic and immune diseases, including severe combined immunodeficiency (SCID), known as the "bubble boy disease."
Dr Roncarolo was a key member of the team that carried out the first stem cell transplants given before birth to treat these genetic diseases. Her work would later lead her to become one of the pioneers in developing gene therapies for severe genetic diseases, particularly in the context of immune system disorders. She co-led some of the first clinical trials in stem cell-based gene therapy, helping to establish it as a viable treatment for immune system disorders. This approach marked a milestone in both stem cell therapy and the emerging field of gene therapy.
Dr Roncarolo is well known for identifying a peripheral subset of regulatory T cells, called T regulatory type 1 cells (Tr1), which help maintain immune system homeostasis by preventing autoimmune diseases and assisting the immune system in tolerating transplanted cells and organs. She was the principal investigator of the first clinical trial using Tr1 cells generated ex vivo to treat graft-versus-host disease in leukemia patients receiving a haploidentical hematopoietic stem cell transplant.
Dr Roncarolo's groundbreaking contributions to gene therapy have not gone unnoticed. Her work has been recognized globally, and she has held leadership roles at major research institutions, including as the Director of the Center for Definitive and Curative Medicine and co-director of the institute for Stem Cell Biology and Regenerative Medicine at Stanford University. Her work continues to inspire the field, with a focus on translating scientific discoveries into tangible treatments—such as her current leadership of a clinical trial using Tr1 regulatory cells to prevent graft-versus-host disease in stem cell transplant patients.
“It was during my pediatrics rotation that I found my true calling and research focus. I encountered children with primary immunodeficiency, often referred to as "bubble boys." […] This experience solidified my decision to focus on pediatric immunology. I wanted to find solutions, not just manage symptoms.
References/additional material
Katherine A. High
High KA. Gene therapy for hemophilia: the clot thickens. Hum Gene Ther. 2014 Nov;25(11):915-22. doi: 10.1089/hum.2014.2541. PMID: 25397928; PMCID: PMC4236063.
https://sparktx.com/wp-content/uploads/Kathy-High-Bio-2.pdf
https://harvardalumnihealthcare.com/people-of-haih/katherine-high
https://biovox.eu/gene-therapy-pioneer-dr-katherine-high-on-the-past-and-future-of-the-field/
https://www.viriontx.com/team/katherine-high/
https://pmc.ncbi.nlm.nih.gov/articles/PMC10104888/pdf/jci-133-170663.pdf
Emmanuelle Charpentier
Jinek M, Chylinski K, Fonfara I, Hauer M, Doudna JA, Charpentier E. A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity. Science. 2012 Aug 17;337(6096):816-21. doi: 10.1126/science.1225829. Epub 2012 Jun 28. PMID: 22745249; PMCID: PMC6286148.
Maria Grazia Roncarolo
Aiuti, A., Cattaneo, F., Galimberti, S., Benninghoff, U., Cassani, B., Callegaro, L., Scaramuzza, S., Andolfi, G., Mirolo, M., Brigida, I., Tabucchi, A., Carlucci, F., Eibl, M., Aker, M., Slavin, S., Al-Mousa, H., Al Ghonaium, A., Ferster, A., Duppenthaler, A., Notarangelo, L., Wintergerst, U., Buckley, R. H., Bregni, M., Marktel, S., Valsecchi, M. G., Rossi, P., Ciceri, F., Miniero, R., Bordignon, C., & Roncarolo, M. G. (2009). Gene therapy for immunodeficiency due to adenosine deaminase deficiency. New England Journal of Medicine, 360(5), 447–458.
