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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

Description:

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.

Ladders to Cures Symposium 2023 - Advances in Rare Disease Research and Therapies

Broad Institute

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#Science #Biology #Genetics #Genetic Disorders #Data Science #Bioinformatics #Life Science #Drug Development #Medicine #Medical Research #Biomarkers #Biotechnology #Gene Therapy

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