Uploaded June 2025 | Updated September 2026, 2 weeks ago
Ladders to Cures Accelerator Symposium: Reaching New Heights
Friday, May 16, 2025
Broad Institute
Session 2: Actionable Mechanisms Driving Rare Disease
Chair: Jillian Shaw
Somatic Repeat Expansion as a Shared Therapeutic Target for Repeat Expansion Disorders
00:00 Speaker: Ricardo Mouro Pinto
Characterization of the functional and clinical impacts of CACNA1A de novo missense variants
24:00 Speaker: Jen Pan
Broadening the Role of Survival of Motor Neuron Protein
49:00 Speaker: Lee Rubin
We are excited to invite you to the second annual Ladder to Cures Symposium | Reaching New Heights whose goal is to share progress in scalable technologies and advances in biology leading to treatments and cures for patients with rare genetic diseases. This hybrid all-day event will be held on May 16th, 2025 in the Broad Auditorium and streamed online. Anyone with an interest in rare disease research is invited to attend.
Building on Broad’s strengths of scaling scientific efforts to accelerate progress, this symposium will convene scientists, physicians, patients/patient-led foundations and advisors from the biopharma and regulatory space to join the conversation.
For more information visit: broadinstitute.org/L2C
Copyright Broad Institute, 2025. All rights reserved.
Ladders to Cures Accelerator Symposium: Reaching New Heights
Friday, May 16, 2025
Broad Institute
Session 2: Actionable Mechanisms Driving Rare Disease
Chair: Jillian Shaw
Somatic Repeat Expansion as a Shared Therapeutic Target for Repeat Expansion Disorders
00:00 Speaker: Ricardo Mouro Pinto
Characterization of the functional and clinical impacts of CACNA1A de novo missense variants
24:00 Speaker: Jen Pan
Broadening the Role of Survival of Motor Neuron Protein
49:00 Speaker: Lee Rubin
We are excited to invite you to the second annual Ladder to Cures Symposium | Reaching New Heights whose goal is to share progress in scalable technologies and advances in biology leading to treatments and cures for patients with rare genetic diseases. This hybrid all-day event will be held on May 16th, 2025 in the Broad Auditorium and streamed online. Anyone with an interest in rare disease research is invited to attend.
Building on Broad’s strengths of scaling scientific efforts to accelerate progress, this symposium will convene scientists, physicians, patients/patient-led foundations and advisors from the biopharma and regulatory space to join the conversation.
For more information visit: broadinstitute.org/L2C
Copyright Broad Institute, 2025. All rights reserved.
