News & Events

Please save the date for the RSZ TNC’s fifth symposium on September 23, 2024. Registration link and more details to come!

Join us for the IDefine Family Conference in Boston 2024! This conference will bring together families, doctors, professionals and fun activities for our Kleefstra Syndrome community! The conference will be held from June 20 - June 23 at the Embassy Suites by Hilton Boston Waltham. Please register to indicate your interest in attending this conference.

Dr. Maya Chopra and her research team at Boston Children’s Hospital are hosting an informational webinar for those impacted by or hoping to learn more about Chopra- Amiel-Gordon Syndrome (CAGS), a rare neurodevelopmental condition caused by changes in the ANKRD17 gene.

The Phelan-McDermid Syndrome Drug Development Symposium (PMSDDS) is the first meeting of its kind, bringing together biopharmaceutical companies with SHANK3 basic scientists, PMS clinical experts, and regulatory experts. Through this symposium, CureSHANK aims to foster thoughtful discussion, shape the future of PMS clinical trials, and accelerate drug development.

This spring the RSZ TNC is offering a short lecture series on preclinical drug discovery for the neuroscience community. It is intended to give translational neuroscientists at all career stages insight into the drug discovery process from experts part of the local pharmaceutical and biotechnology ecosystem.

Emphasizing the significance of recognizing women's contribution in science, the NORD Center of Excellence for Rare Disorders at Boston Children's Hospital is recognizing Rosalind Franklin and her work by naming the Rare Disease Grand Rounds in her honor. Please join RSZ TNC Translational Genomic Medicine Core Director Maya Chopra for her lecture, “Rare genetic neurodevelopmental disorders: leaping across the translational arc.” Click the link below for RSVP/Zoom Link & more details.

The RSZ TNC is proud to join in celebrating the remarkable strength and unique spirit of children with Rett Syndrome. Program begins at 11am in HMS Quad with a lunch for the families to follow in CLS 12 (if raining, the program will move to CLS 12).

The RSZ TNC would like to extend a warm invitation to scientific advisors and families for the 7th annual AP4-Associated HSP Research Conference! This year’s conference includes an ambitious agenda spanning 3 days. Some exciting new developments in the ongoing gene therapy and drug screening projects will be presented, as well as a progress report on the Natural History Study and International Patient Registry. We look forward to productive discussions around next steps for each of these efforts.

The third annual International Kleefstra Syndrome Family & Scientific Conference is a virtual event that brings together Kleefstra Syndrome patients, caretakers, organizers, doctors, and researchers in a spirit of collaboration. The RSZ TNC is facilitating this meeting in partnership with the IDefine patient advocacy organization, the Kleefstra Syndrome Europe Alliance, and Radboud University Medical Centre.

Emphasizing the significance of recognizing women's contribution in science, the NORD Center of Excellence for Rare Disorders at Boston Children's Hospital is recognizing Rosalind Franklin and her work by naming the Rare Disease Grand Rounds in her honor.

Members of the rare disease community from around the world will gather in San Diego this September for Global Genes’ 12th Annual RARE Advocacy Summit, one of the largest gatherings of the rare disease community. This event is an opportunity for advocates to learn, network, and inspire each other as they interact with researchers, healthcare professionals, drug developers and other advocates during the three-day event that runs September 19 through 21 at the Sheraton San Diego Hotel & Marina on Harbor Island Drive in San Diego.

The SCN2A Biennial SCN2A Family & Professional Conference is coming to Boston! This event will be co-hosted by The FamilieSCN2A Foundation and The Rosamund Stone Zander Translational Neuroscience Center of Boston Children's Hospital from Wednesday, July 19 through Friday, July 21, and provides a unique opportunity for SCN2A families & professionals to come together and learn about SCN2A-related topics.

Last chance to register! The RARE Drug Development Symposium, hosted by Global Genes and the Orphan Disease Center of the University of Pennsylvania, equips advocates with the knowledge, skills and connections they need to advance therapy development for their communities. The unique format of this two-day, live event allows participants to learn from rare disease leaders in the field. The RSZ TNC’s director of Translational Genomic Medicine, Maya Chopra, MBBS, FRACP, will be among these experts, and a featured panelist at this event: To learn more and register, use the link below.

Calling all #CDKL5 families! Join the International Foundation for CDKL5 Research (IFCR) for a "CDKL5 Family Meet Up" free event at the Shaw's Visiting Bullpen Terrace of the Worcester Red Sox on Sunday, April 30th! The game starts at 1:05. Lunch is included. An itinerary with full event details will be provided to those who RSVP. Please RSVP no later than March 30.

In collaboration with the Brazelton Touchpoints Center, we are excited to share the 2023 Parenting While Black series, Radically Resistant: Fostering the Brilliance and Awe in Raising Bold Black Children. This free virtual series offers a safe and welcoming space to hold conversations for and by Black families.

The RSZ TNC would like to extend a warm invitation to the 6th Annual AP4-HSP Research Conference hosted by CureAP-4 and the Rosamond Stone Zander Translational Neuroscience Center on October 28, 2022, from 10AM - 4PM (EST). Some exciting new developments in the ongoing gene therapy and drug screening projects will be presented, as well as a progress report on the Natural History Study and International Patient Registry.

REGISTRATION OPEN! The Rosamund Stone Zander Translational Neuroscience Center (RSZ TNC) at Boston Children's Hospital will host its symposium entitled Gene Therapy for Pediatric Neurological Disorders on Tuesday, October 18th 2022.
Please save the date.

Boston Children’s Hospital through the Infantile Spams (IS) Program and other research groups have been at the forefront of the outstanding clinical care and research productivity related to IS. The sharing of research and promising treatments through this forum has the potential to lead to greater collaborations and novel discoveries, more so than by teams working in silos. The BCH Infantile Spasms Symposium will be a one-day gathering bringing together the clinical and research efforts related to IS from BCH and the Greater Boston area.

Members of the TNC Clinical Research Operations team are collaborating with Harvard Catalyst on the development of the course, Essential Skills for Conducting Clinical & Translational Research. This online course from Harvard Catalyst, Harvard University’s Clinical & Translational Science Center, offers study team members and early-stage investigators a greater understanding of the processes and capabilities needed to successfully conduct clinical research.

The second annual Kleefstra Syndrome Family & Scientific Conference is a virtual conference that brings together Kleefstra Syndrome patients, caretakers, organizers, doctors, and researchers in a spirit of collaboration. The RSZ TNC is coordinating this meeting in partnership with the IDefine patient advocacy organization, the Kleefstra Syndrome Europe Alliance, and Radboud University Medical Centre.