Welcome back to Tufts in Translation where we will spotlight faculty advancing new therapeutic approaches, targets, platforms, and delivery systems. Sessions will feature early-stage research across the drug discovery and design landscape, with an emphasis on translational potential and industry relevance. Dr. Madeleine Oudin's work developing precision genetic therapies for children with SCN8A-related disorders and explore how highly targeted treatments can be advanced from the laboratory to patients with rare diseases.

From n=1 to n=few, how do we get novel genetic therapies to more patients? 

The advent of novel genetic therapies that can be delivered to various organs and cells in the body and precisely correct pathogenic protein function has brought a lot of excitement to the rare disease community. However, many diseases are caused by pathogenic variants throughout the gene, which means that for one gene, there might a range of different genetic strategies that could be suitable to provide genetic correction, which would require developing different genetic products for small populations of 20-100 patients. Here, we will use pathogenic variants in the SCN8A gene, which cause pediatric onset epilepsy, intellectual and physical disability, movement disorders and autism. We will discuss our research in developing splice-switching disease correcting anti-sense oligonucleotides for a subset of SCN8A patients, as well as the challenges to translate these technologies for small populations of patients.

 

Dr. Madeleine Oudin is a Tiampo Family Endowed Faculty Fellow and Associate Professor of Biomedical Engineering at Tufts University, after completing a PhD in Neuroscience from King’s College London and post-doctoral research at MIT. Her independent lab focuses on understanding the mechanisms by which the tumor microenvironment contributes to cancer metastasis and resistance to drugs.

 

She has received numerous awards for her research such as a K99/R00 Pathway to Independence Award in 2016 and a DP2 New Innovator Award in 2021 and was voted Exemplary Engineer by the graduate students in her department 3 years in a row for her commitment to promoting diversity, equity and inclusion in biomedical engineering. In 2021, the diagnosis of her daughter Margot with mutations in the SCN8A gene led to her to start research on SCN8A in her own lab, work to develop an ASO for patients with SCN8A, and become an advocate for individuals with epilepsy and other disabilities.