10:00 am – 10:10 am
Workshop Introduction and Acknowledgements
- Glen Nuckolls PhD, National Institutes of Health, NINDS
10:10 am – 10:15 am
Introduction to Genetic Modifier Discovery Session
- Trudy MacKay PhD, Clemson University
10:15 am – 11:15 am
15 min presentations plus Q&A
- Genetic Modifiers of Huntington’s Disease
James Gusella PhD, Harvard Medical School - Genome-wide In Vivo CNS Screening to Identify Genetic Modifiers of Mutant Huntingtin Toxicity
Myriam Heiman PhD, Massachusetts Institute of Technology - Strategies for Modifier Detection in Drosophila
Trudy MacKay PhD, Clemson University
- Genetic Modifiers of Huntington’s Disease
11:15 am – 11:20 am
Break
11:20 am – 12:00 pm
Virtual Poster Session 1 – Short, pre-recorded presentations selected from abstracts, live Q&A
- Functional screening of lysosomal storage disorder genes identifies modifiers of neurodegeneration in synucleinopathy
Meigen Yu, Baylor College of Medicine - Parkinson’s disease risk genes act in glia to control neuronal alpha-synuclein toxicity
Abby Olsen MD PhD, Brigham and Women’s Hospital, Harvard Medical School - Targeting Sipa1l2 and other candidate modifiers in the Sox10/Egr2 co-expression network to treat CMT1A
George Murray, The Jackson Laboratory & The University of Maine - Defining the molecular mechanism of GARS1-related Charcot-Marie-Tooth disease
Sheila Marte, University of Michigan - Systems-guided in vivo identification of causal mechanisms in Alzheimer’s disease from human brain transcriptomic profiles
Grant Mangleburg, Baylor College of Medicine
- Functional screening of lysosomal storage disorder genes identifies modifiers of neurodegeneration in synucleinopathy
12:00 pm -12:15 pm
Break
12:15 pm – 1:15 pm
-
-
- A Decade Long Clinical-Genetics Effort Identifies SIPA1L2 as a Modifier Gene for the Common Peripheral Neuropathy Subtype CMT1A
Stephan Züchner MD, PhD, University of Miami - TMEM106B, A Key Protective Factor in the Brain
Rosa Rademakers PhD, University of Antwerp - Insights for Rett Syndrome from the Identification of Genetic Modifiers in Mecp2 Mice
Monica Justice PhD, The Hospital for Sick Children (SickKids)
- A Decade Long Clinical-Genetics Effort Identifies SIPA1L2 as a Modifier Gene for the Common Peripheral Neuropathy Subtype CMT1A
-
1:15 pm – 2:00 pm
Open group discussion
Moderated by Co-Chairs Monica Justice and Trudy MacKay
2:00 pm – 3:00 pm
“Happy Hour” for students, fellows and new investigators to meet with workshop presenters, Co-Chairs and NIH Program Directors
ZOOM LINK: https://roseliassociates.zoomgov.com/s/1608146296
Wednesday, September 22, 2021
Modifier Characterization and Mechanisms
Click here to view the recording from Day 2
10:00 am – 10:05 am
Introduction to Session II
- Huda Zoghbi MD, Baylor College of Medicine
10:05 am – 11:05 am
-
-
- Genome Editing in Huntington’s Disease Mice to Test Candidate Modifier Genes
Vanessa Wheeler PhD, Massachusetts General Hospital, Harvard Medical School - Regulatory Variants as Potential Modifiers of Coding Variant Penetrance
Tuuli Lappalainen PhD, Columbia University - An ALS Modifier Gene and a Potential Achilles’ Heel for ALS
Aaron Gitler PhD, Stanford University
- Genome Editing in Huntington’s Disease Mice to Test Candidate Modifier Genes
-
11:05 am – 11:10 am
Break
11:10 am – 12:15 pm
Virtual Poster Session 2 – Short pre-recorded presentations selected from abstracts, live Q&A
- Sequence variation upstream of a cytoplasmic tRNA modifies neurodegeneration induced by ribosome stalling
Michael J. Molumby PhD, University of California San Diego - Modifiers of neurodegenerative disease can act to extend lifespan and CNS healthspan in Drosophila melanogaster
Megan Mair, Baylor College of Medicine - Sequencing of phenotypic extremes to identify genetic modifiers of Rett Syndrome
Jonathan Merritt PhD, Vanderbilt University Medical Center - A role for L1CAM/SAX-7 and Erk signaling in fluid regulation and vulva development
Caroline Aragon, University of Minnesota - Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse
Wenxi Yu PhD, University of Michigan - Targeting Latent TGF-beta binding protein 4 (LTBP4) for the treatment of muscular dystrophy
Alexis R. Demonbreun PhD, Northwestern University - Genetic compensation at the AIS: Scn8a and Kcna1
Sophie Hill, University of Michigan - Using Drosophila melanogaster to identify loci modifying Coffin-Siris syndrome mutations
Rebecca MacPherson, Clemson University - Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling
Paul Marcogliese PhD, Baylor College of Medicine
- Sequence variation upstream of a cytoplasmic tRNA modifies neurodegeneration induced by ribosome stalling
12:15 pm -12:30 pm
Break
12:30 pm – 1:30 pm
-
-
- Sphingolipids and Ceramides in the Pathogenesis of Lysosomal Storage Diseases and Parkinson’s Disease
Hugo Bellen DVM PhD, Baylor College of Medicine - Transfer RNAs as Genetic Modifiers of Neurological Phenotypes
Susan Ackerman PhD, University of California, San Diego - Tau Translation Regulation by Paired Antisense Long Non-coding RNA Transcripts
Rohan De Silva DPhil, University College London
- Sphingolipids and Ceramides in the Pathogenesis of Lysosomal Storage Diseases and Parkinson’s Disease
-
1:30 pm – 2:00 pm
Open group discussion
Moderated by Co-Chairs Huda Zoghbi and Susan Ackerman
2:00 pm – 3:00 pm
“Happy Hour” for students, fellows and new investigator to meet with workshop presenters, Co-Chairs and NIH Program Directors
ZOOM LINK: https://roseliassociates.zoomgov.com/s/1608146296
Thursday, September 23, 2021
Translational Research from Genetic Modifiers
Click here to view the recording from Day 3
10:00 am – 10:05 am
Introduction to Translational Research Session
- Stephan Zuchner, University of Miami
10:05 am – 11:25 am
-
-
- Personalized Medicine Using a Zebrafish Model for Dravet Syndrome
Scott Baraban PhD, University of California, San Francisco - Application of Genetics in Drug Discovery and Development
Aris Baras MD MBA, Regeneron - Identifying Genetic and Chemical Modifiers: Lessons from Congenital Myopathies
James Dowling MD PhD, The Hospital for Sick Children (SickKids) - Gaucher Disease “Complexity” in a “Simple” Mendelian Disorder
Ellen Sidransky MD, National Institutes of Health, NHGRI
- Personalized Medicine Using a Zebrafish Model for Dravet Syndrome
-
11:25 am – 11:30 am
Break
11:30 am – 12:15 pm
Research Resources for Modifier Research, 10 min presentations plus Q&A
- Mouse Resources for Genetic Modifier Studies
Elissa Chesler PhD, The Jackson Laboratory - International HundredK+ Cohorts Consortium
Hakon Hakonarson MD, PhD, Children’s Hospital Philadelphia - NHLBI Trans-Omics for Precision Medicine (TOPMed)
Albert Smith PhD, University of Michigan
- Mouse Resources for Genetic Modifier Studies
12:15 pm -12:30 pm
Break
12:30 pm – 1:30 pm
-
-
- Fetal Hemoglobin: from Bedside to Bench to Bedside
Swee Lay Thein FRCP DSc FMedSci, National Institutes of Health, NHLBI - Prospects for Modifier Studies in Diverse Populations: Lessons from Africa
Neil A. Hanchard MD, DPhil FACMG, National Institutes of Health, NHGRI - Regional Effects of Modifiers: Lessons from Spinocerebellar Ataxia type1
Huda Zoghbi MD, Baylor College of Medicine
- Fetal Hemoglobin: from Bedside to Bench to Bedside
-
1:30 pm – 2:00 pm
Open group discussion
Moderated by Co-Chairs Huda Zoghbi and Stephan Zuchner
2:00 pm – 3:00 pm
“Happy Hour” for students, fellows and new investigator to meet with workshop presenters, Co-Chairs and NIH Program Directors
ZOOM LINK: https://roseliassociates.zoomgov.com/s/1608146296