Explore cutting-edge research and developments in rare disease therapies through this comprehensive symposium featuring expert keynotes and panel discussions. Delve into topics like genetic etiologies of developmental disorders, sickle cell disease treatments, large-scale biology approaches, mechanisms driving rare diseases, patient-centric platforms, biomarkers, and gene therapies. Gain insights from leading researchers and clinicians on the latest advancements in diagnosis, drug development, and translational research for rare disorders. Learn about innovative technologies like multiplexed imaging, CRISPRi-Perturb-seq, and direct-to-patient portals. Engage with thought-provoking Q&A sessions and a panel discussion exploring future possibilities in rare disease therapies.

Syllabus

Anna Greka,
Todd Golub,
Introduced by Heidi Rehm,
Introduced by Anna Greka,
Q&A: Elizabeth Engle and Ted Love,
Chaired by Paul Blainey,
In silico assessment of druggability of target-disease pairs; Sumaiya Iqbal
Multiplexed imaging for subcellular interrogation of rare kidney disease; Matt Brown
Neurobiological insights from human cellular models; Ralda Nehme
Mechanism of Feature Learning in Neural Networks; Adit Radhakrishnan
Session 1 Speakers Q&A,
Introduced by Anahita Vieira
Q&A: Simon Frost
Chaired by JT Neal and Jillian Shaw,
Mitochondrial disorders; Vamsi Mootha
Two steps forward, one step back: Development of AAV-based gene therapies for congenital myopathies; Alan Beggs
Large scale CRISPRi-Perturb-seq in endothelial cells identifies shared disease mechanisms between rare and common vascular disorders; Rajat Gupta
From patients to clinical trials: translational research in neurodevelopmental disorders; Mustafa Sahin
Session 2 Speakers Q&A,
Chaired by Anne O’Donnell-Luria and Anthony Philippakis
Role of biomarkers in rare disease drug development; Eric Minikel
Building direct-to-patient portals; Clare Bernard and Mounica Yanamandala
Actionable genetic targets in the era of gene therapies; Tim Yu
Session 3 Speakers Q&A,
Introduced by Alex Burgin
Moderated by Eric Lander, with panelists Nancy Andrews, Daniel Fischer, Anna Greka, Kerry Jo Lee, David Meeker, Vamsi Mootha, and Heidi Rehm
Closing remarks: Anna Greka