EARLY CAREER INVESTIGATOR SPOTLIGHT
What are your research goals?
Dr. Chatzipli: My research focuses on using high-resolution multi-omic approaches and human-specific model systems to bridge molecular discovery and clinical therapy for rare brain disorders. My primary goals are: (1) to generate the first single-cell atlas of Batten disease across multiple subtypes and healthy controls, identifying shared cellular and molecular mechanisms of neurodegeneration; (2) to evaluate the distribution and efficacy of individualized antisense oligonucleotide (ASO) and gene therapies in rare postmortem human brain tissue, addressing key barriers to clinical translation such as limited neuronal uptake despite promising animal studies; and (3) to develop and apply human-specific models, including brain organoids, to better predict therapeutic outcomes and improve the translation of novel treatments from the laboratory to patients.
How are you involved with the RDCRN?
Dr. Chatzipli: I am a computational geneticist and research fellow at Boston Children's Hospital and Harvard Medical School within the Division of Genetics and Genomics. I am an active member of the BDCRC at the Boston Children's Hospital site, where I collaborate with clinicians and researchers to advance translational research in Batten disease. My role within the RDCRN is to generate and analyze high-resolution single-cell transcriptomic datasets from human brain tissue to better understand disease mechanisms and evaluate responses to emerging therapies. By contributing these datasets and working within a multidisciplinary network, I support the consortium's efforts to accelerate biomarker discovery, improve our understanding of disease pathogenesis, and advance the development of new treatments for patients with Batten disease.
How does participating in the network support your long-term development?
Dr. Chatzipli: Participating in the RDCRN significantly advances my long-term goal of becoming an independent investigator leading translational research in rare neurodegenerative disorders. The RDCRN provides a unique environment where basic scientists, clinicians, patient advocacy organizations, and industry partners collaborate to accelerate therapeutic development. Through this multidisciplinary network, I will gain mentorship, establish collaborations, and contribute to natural history, biomarker, and therapeutic studies that will strengthen the clinical impact of my research. These opportunities will help me develop independent research programs, lead future investigator-initiated projects, and translate mechanistic discoveries into meaningful advances for patients with rare neurological diseases.