Two ISCRM faculty members, Julie Mathieu, PhD, Assistant Professor, Comparative Medicine and Niclas Bengtsson, PhD, Assistant Professor, Neurology, have received prestigious awards from the John H. Tietze Foundation Trust that will help fuel promising research underway in their labs.
Neural tube defects (NTDs) are life-threatening conditions that occur in about 1 in 1000 births when the neural tube fails to close during embryonic development. Even with treatment, conditions like spina bifida (SB) can still result in serious disabilities. Both genetic and environmental factors contribute to SB. While several mutations have been implicated, how exactly these mutations lead to the disease in humans remains largely unexplored.
With funding from the John H. Tietze Stem Cell Scientist Award, Dr. Mathieu and her lab will use CRISPR-edited pluripotent stem cells and new in vitro models to uncover the molecular mechanisms contributing to SB in patients with mutations to the gene GPR161. Gaining a deeper understanding of GPR161’s role in early human development and neurogenesis will provide valuable insights into the pathogenesis of SB and may potentially lead to the development of more effective treatments and interventions for affected individuals.
“Spina bifida and other disorders that occur during embryonic development can be devastating for parents and their newborn babies,” says Mathieu. “We believe that gene-editing may be a way to help those impacted by neural tube defects live longer, healthier lives. We’re grateful to the John H. Tietze Foundation Trust for this funding, which will allow us to use genome editing and new in vitro models to better understand the etiology of the disease and allow us to pursue new treatments.”
Gene editing also holds tremendous promise for the development of effective treatments of genetic degenerative diseases, including Duchenne muscular dystrophy (DMD), a severe degenerative muscle disease caused by mutations in the gene that encodes dystrophin, a protein essential for the strength and durability of muscle fibers.
Onset of DMD, which affects about one in 5000 male births, occurs in early childhood and leads steadily to lost mobility and life-threatening heart and diaphragm weakness. The average life-expectance for people with DMD is 27-30 years and the best therapies can only alleviate symptoms and slow progression of the disease.
The Jaconette L. Tietze Young Scientist Award will enable Dr. Bengtsson to design novel methods that treat both existing muscle and muscle stem cells to rescue long-term muscle function. These novel methods will be compared to treatments currently being evaluated in clinical trials using state-of-the-art analyses. Importantly, the data generated will be instrumental in securing additional funding from federal sources.
“This award is a tremendous honor and affirmation of the need to develop effective treatments for suffering patients and their families,” says Bengtsson. “Thank you to the Tietze family and to ISCRM for supporting our research.”
John H. Tietze Stem Cell Scientist Award
The John H. Tietze Stem Cell Scientist Award is a one-year award of $50,000 to support the research of any UW FACULTY member of ISCRM who is pursuing novel preliminary experiments, where the grant might provide sufficient stimulus to enable the research to advance to the point of being competitive for external funding. The research should involve or be relevant to some aspect of stem or progenitor cell biology or therapies.
Jaconette L. Tietze Young Scientist Award
The Jaconette L. Tietze Young Scientist Award is also for one year of support of $25,000. Preference will be given a junior faculty (including Acting Instructor level) located at the UW who has not yet received major external funding (such as an R01). The research should involve or be relevant to some aspect of stem or progenitor cell biology or therapies.