Monday April 12th, 2021

Session One

Chair: Charlotte Brannon, Stanford University

1. Aaron Gitler, Stanford University,  Expanding mechanisms and therapeutic targets for ALS

2. Meredith Course, University of Washington, The composition and expansion of large, human-specific tandem repeats

3. Ryan Yuen, U of Toronto & SickKids, Tandem repeat expansions in complex disorders: beyond the coding sequence

4. Melissa Gymrek, UCSD, Genome-wide characterization of de novo tandem repeat mutations in humans and their contribution to autism spectrum disorders

5. Sandrine Da Cruz, VIB-KU Leuven, From the motor neuron to the neuromuscular junction: unraveling neurodegenerative mechanisms in ALS

6. Don Cleveland, UCSD, Designer DNA drug therapy for neurodegenerative disease from repeat expansions

Session Two

Chair: Vandhana Krishnan, Stanford University

1. Ting Wang, WashU, Transposable elements and epigenome evolution

2. Kathleen Burns, Dana Farber, Heritable and acquired mobile element insertions

3. Karen Miga, T2T Cons. & UCSC, Telomere-to-Telomere chromosome assemblies: New insights into genome biology and structure

4. Charles Lee, Jackson Laboratory, Elucidating complex structural variant regions of the human genome

5. Evan Eichler, University of Washington & HHMI, Long-read sequencing and the characterization of complex genetic variation

6. Aaron Wenger, PacBio, Accurate long-read sequencing of 80 rare disease cases unsolved by short reads

Monday May 11th, 2020

Session One

Chair: Gamze Gursoy, Yale University

1. Jan Korbel, EMBL, Single-cell analysis of structural variations, complex DNA rearrangements

2. Lesley Jones, Cardiff University, Genetic modifiers in Huntington’s disease: an expanding tale

3. Clotilde Lagier-Tourenne, Harvard Medical School, Modeling C9ORF72 expansion: a crucial step for therapeutic development in neurodegenerative diseases

4. Janet Song, Stanford University, Characterization of a tandem repeat array associated with human evolution and psychiatric disease

5. Jonathan Sebat, UCSD, What SVs can tell us about the genetic basis of psychiatric traits

6. Aseem Ansari, St. Jude, Synthetic genome regulators (synGRs) to remedy repeat based diseases

7. Christopher Pearson, U of Toronto / SickKids, Towards reversing the mutation of a repeat expansion disease

Session Two

Chair: Vandhana Krishnan, Stanford University

1. Karen Miga, T2T Consortium & UCSC, New Era of Telomere-to-Telomere (T2T) Genomics: Advancing technologies to study the uncharted regions of the human genome

2. Kelly Frazer, UCSD, Properties of structural variants and short tandem repeats associated with gene expression and complex traits

3. Ryan Mills, University of Michigan, Identification and characterization of cryptic genomic repetitive elements

4. Justin Zook, GIAB Consortium & NIST, Genome in a Bottle Benchmarks for Structural Variants and Repetitive Regions

5. Cedric Feschotte, Cornell University, Impact of transposable element insertions on human gene expression variation

6. Egor Dolzhenko, Illumina, Locating repeat expansions in short-read sequencing data

7. Annalisa Pawlosky, Google, Harnessing the power of DNA structure for protein sequencing