Originally from India, Shivang Khandelwal is presently engaged in advanced studies at the Hebrew University of Jerusalem. His primary research focus is on PCDH19 cluster epilepsy, a neurodevelopmental and neuropsychiatric disorder. He is deeply involved in understanding the fundamental science behind this disorder, with the ultimate goal of developing antisense oligonucleotides as a therapeutic intervention.
Khandelwal recently attended the CTNNB1 conference in Ljubljana, which took place from June 14th to June 16th. His participation in this conference was a result of his longstanding collaboration with Špela Mirošević, whose son is affected by CTNNB1 syndrome. This collaboration began about four years ago and has since evolved into a more intense partnership focused on understanding and developing treatments for CTNNB1 syndrome. Together, they have published a literature review and an article connecting epilepsies with CTNNB1 syndrome. Khandelwal was invited to the conference to present his work and share insights.
The conference proved to be a highly enriching experience for Khandelwal. He was particularly impressed by the breadth of information presented, which included contributions from 82 patients undergoing clinical examinations. The diversity of perspectives, ranging from scientific discussions to clinical insights and parent experiences, was both enlightening and impactful. This exposure has significantly influenced his career trajectory, reinforcing his commitment to the field of neurodevelopmental disorders and translational medicine.
During the conference, Khandelwal learned extensively about the Center for the Technologies of Cell and Gene Therapy (CTGCT) at the National Institute of Chemistry. The CTGCT is dedicated to developing cell and gene therapies for various rare diseases. It operates in collaboration with several international universities, including institutions in London and Germany. Khandelwal’s prior interactions with some of these collaborators, such as Roman Jerala, who provided him with recommendations for his PhD applications, have further solidified his network within this research community.
Looking ahead, Khandelwal’s immediate plan is to complete his master’s degree in a few months. He then intends to move to Prague to begin his PhD under the mentorship of Professor David Sabatini, who has recently established a new lab there. This lab, with branches in both Boston and Prague, focuses on neurodegeneration and the underlying basic science. Khandelwal is eager to contribute to this field while maintaining his ongoing research on CTNNB1 syndrome. He plans to continue collaborating with Špela, assisting in data collection, research, and analysis, thereby balancing his master’s, PhD, and CTNNB1 research commitments.
Khandelwal envisions a collaborative network between researchers in Prague, particularly with those he met at the conference, such as Jan Prohazka, who has expressed interest in collaborating with Professor Sabatini. This network aims to advance the understanding and treatment of neurodegenerative diseases and related disorders through joint research efforts.
Despite his optimism, Khandelwal acknowledges the significant challenges in developing cell and gene therapies. One of the primary hurdles is the collection of specific and comprehensive data, especially given the rarity of these diseases and the difficulty in diagnosing and gathering patient data, most of whom are children. Early diagnosis and data collection are crucial yet challenging aspects of this research.
Moreover, understanding the basic science behind these disorders is essential for developing effective therapies. This process is time-consuming and complex, requiring meticulous research and experimentation. The development of gene or cell therapies involves optimizing numerous variables, including vectors, cells, and patient-specific conditions. Khandelwal emphasizes that these challenges, while daunting, are intrinsic to scientific progress.
In summary, Shivang Khandelwal’s interview highlights his dedication to advancing the understanding and treatment of neurodevelopmental disorders. His journey from India to Jerusalem and soon to Prague reflects a commitment to both basic and translational science. Through collaborations, conferences, and continuous research, Khandelwal aims to contribute significantly to the field of cell and gene therapy, overcoming challenges and pushing the boundaries of medical science.