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The expanding role of repetitive
sequences in disease
4th International Brainstorm Symposium
University of Florida
Gainesville, FL
January 15, 16, & 17, 2020
Center for NeuroGenetics
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T he Center for NeuroGenetics is delighted to welcome
you to the Fourth International Brainstorm
Symposium, held at the Harn Museum at the University of
Florida.
This two and a half day symposium is unique in that it
brings together an outstanding and diverse group of
scien sts to discuss various aspects of genome biology and
neurodegenera on. Our focus this year is on
understanding diverse mechanisms of repe ve sequences
in neurodegenera ve diseases. We hope that this mee ng
will serve to inspire up‐and‐coming young researchers as
well as s mulate collabora on and interdisciplinary
research. Hopefully, our mee ng interac ons will also
provide unique insights into the role of repe ve DNA in
disease and strategies to understand and fight these
debilita ng diseases.
We would like to thank all of you for joining us from near
and far and hope you will enjoy everything this Brainstorm
has to offer.
Warm regards,
Laura Ranum, PhD Maurice Swanson, PhD Director Associate Director Center for NeuroGene cs Center for NeuroGene cs
Program at a Glance
Page 5
Welcome Reception and
Keynote Speaker
Page 5
Thursday Schedule
Pages 6—7
Friday Schedule
Pages 8—9
Welcome Reception Information
Page 10
Gala Dinner Information
Page 11
TABLE OF CONTENTS
Center for NeuroGenetics
PO Box 103610
Gainesville, FL 32610
Phone: 352‐273‐6177
Fax: 352‐294‐8074
Laura Ranum, PhD
Director
Maurice Swanson, PhD
Associate Director
Felicia L. Fitzgerald
Clinical Research Coordinator
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Thursday, January 16th Friday, January 17th
7:15‐8:00 AM Check in at the Harn Museum Check out of Hilton Hotel by Noon
8:00 AM Opening Remarks
8:10‐9:40 am
Session 1 CAG repeats and polyQ proteins
8:00‐9:30 am
Session 5 Disease‐Associated Transposable Elements
9:40‐10:00 AM Coffee Break 9:30‐9:50 am Coffee Break
10:00 am‐12:10 pm
Session 2 RNA‐mediated pathomechanisms
9:50‐11:50 am
Session 6 Novel mechanisms, repeats, and proteins
12:10‐1:00 pm Lunch 11:50‐1:00 pm Lunch
1:00‐3:10 pm
Session 7 Microsatellite dynamics
1:00‐2:30 pm
Session 3 RNA processing, translation and
localization errors in disease
2:30‐2:50 pm Coffee Break 3:10‐3:30 pm Coffee Break
2:50‐5:10 pm
Session 4 Proteinopathy and RAN translation in
repeat expansion disorders
3:30‐5:00 pm
Session 8 Therapeutic opportunities
5:10pm Announcements 5:10 pm Short Talk Awards
5:15 pm Announcements/Brief Closing Remarks
6:30 pm
Gala Dinner—Sweet Water Branch Inn
Center for NeuroGenetics Fourth International Brainstorm Symposium
Welcome reception (6‐6:45 pm) and Keynote (7 pm) at the Harn Museum. Cocktails & hors‐d’oeuvres will be served from 6 pm until 6:45 pm Opening remarks at 6:50, Keynote at 7 pm Pick up your registration packages this evening.
Wednesday January 15th, 6‐9 pm Program at a Glance
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Welcome Reception January 15, 2020
Welcome Reception and Symposium Check‐In—Harn Museum
6:00‐6:45 pm Harn Museum. Wine, beer and hors d’oeuvres.
Pick up you symposium registration packet.
6:50‐6:55 pm Welcome, Symposium Overview — Laura Ranum, PhD
Keynote Speakers
Chair: Maurice Swanson, PhD
7:00‐7:45 pm Harry T. Orr, PhD
University of Minnesota
Ataxin‐1 Biology and SCA1 Pathogenesis: Insights for
Neurodegenerative Disease
8:00‐8:45 pm Silvere M. van der Maarel, PhD
Lieden University Medical Center
Facioscapulohumeral muscular dystrophy: clinical, genetic and
nuclear heterogeneity in a monogenic disease.
7:45‐8:00 pm Discussion
8:45‐9:00 pm Discussion
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Day Two—Harn Museum January 16, 2020
7:15–8:00am Harn Museum—Check in, Symposium packet pickup
Session 1 CAG repeats and polyQ proteins
Chair: Laura Ranum, PhD
8:00‐8:10 am Opening Remarks
8:10‐8:40 am Diane Merry, PhD
Thomas Jefferson University
Spinal and bulbar muscular atrophy: identifying strategies to block toxicity
while preserving function of the mutant androgen receptor protein
8:40‐9:10 am Leslie Thompson, PhD
University of California, Irvine
Intersection of SUMO modification and DNA repair in HD
9:10‐9:40 am Matt Scaglione, PhD
Duke University
Using a Proteostatic Outlier to Probe Neurodegeneration
9:40‐10:00 am Coffee Break
Session 2 Novel repeats and RNA‐mediated pathomechanisms
Chair: Eric Wang, PhD
10:00‐10:30 am Peng Jin, PhD
Emory University
Molecular Basis of CGG Repeat Expansion‐associated Neurological
Disorders
10:30‐11:00 am Maurice Swanson, PhD
University of Florida
Short Tandem Repeats in Health and Disease
11:00‐11:30 am Ankur Jain, PhD
Whitehead Institute
RNA aggregation in neurodegenerative disease
11:30 am‐12:10 pm
Short Talks Selected from
Abstracts
Four Trainees
(8 min each, 2 min questions)
Lukasz J. Sznajder, Loss of MBNL1 induces RNA mis‐processing in the thymus and peripheral blood
Joseph Ellis, Alterna ve splicing regula on by RBFOX1 over a broad concentra on range
Ryan Meng, RBFOX1 buffers MBNL1 alterna ve splicing ac vity
Cur s Nu er, Cell‐type specific dysregula on of RNA
alterna ve splicing in short tandem repeat mouse knockin models of myotonic dystrophy
12:10‐1:00 pm Lunch
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Gala Dinner 6:30pm‐9:30pm
See information of Page 11 for details of Gala Dinner event
Day Two—Harn Museum January 16, 2020
Session 3 RNA processing, translation, and localization errors in disease
Chair: Mingyi Xie, PhD
1:00‐1:30 pm
James Thomas, PhD
Fred Hutchinson Cancer Research Center
RNA isoform screens reveal the essentiality and tumor suppressor activity of
ultraconserved poison exons
1:30‐2:00 pm
Gary Bassell, PhD
Emory University School of Medicine
Divergent dipeptide repeat pathology in c9ALS/FTD and SCA36
2:00‐2:30 pm Eric Wang, PhD
University of Florida
Framing Repeat Expansion Diseases as a Spectrum: Studies of Graded RNA
Perturbations in Myotonic Dystrophy
2:30‐2:50 pm Coffee Break
Session 4 Proteinopathy and RAN translation in repeat expansion disorders
Chair: Maurice Swanson, PhD
2:50‐3:20 pm Laura Ranum, PhD
University of Florida
Targeting RAN proteins and RAN translation in microsatellite expansion
disorders
3:20‐3:50 pm David Borchelt, PhD
University of Florida Prion‐like characteristics of ALS caused by
mutations in superoxide dismutase 1
3:50‐4:20 pm Joe Abisambra, PhD
University of Florida
Of tau, translation, and other demons: translational dysregulation promotes
pathogenic events in tauopathies
4:20‐5:10 pm
Short Talks Selected from Abstracts
Five Trainees
(8 min each, 2 min questions)
Bailey Peck, Single Nuclear RNA Sequencing of Myonuclei
Bri any Otero, Transcriptomic altera ons in the DM1 frontal cortex
Jesus A. Frias, Probing the mechanisms of poten al therapeu cs for myotonic dystrophy (DM) type 1
Jana Jequin, A myotonic dystrophy type 2 pa ent‐derived fibroblast cell line iden fies splicing biomarkers and use for assessing therapeu cs
Belinda Pinto, Inves ga ng the contribu on of circadian clock disrup on to DM1 hypersomnolence
5:10 pm Announcements Arrangements for Transportation to Gala Dinner
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Day Three — Harn Museum January 17, 2020
7:15‐8:00
am
Harn Museum—Check in, Symposium packet pickup
Please be sure to check out of the Hilton Hotel by Noon Today.
Session 5 Disease associated Transposable Elements
Chair: Piyush Jain, PhD
8:00‐830 am Molly Gale Hammell
Cold Spring Harbor Laboratory
Retrotransposon Reactivation Marks a Subset of ALS Patient Samples
8:30‐9:00 am
Eunjung Alice Lee, PhD
Boston Children’s Hospital, Harvard Medical School
Systematic discovery and intervention of pathogenic retroelement insertions in
human genetic diseases
9:00‐9:30 am Henry Levin, PhD
National Institutes of Health
Retrotransposon insertions associated with risk of neurologic and psychiatric
diseases
9:30‐9:50 am Coffee Break
Session 6 Novel mechanisms and proteins
Chair: Benoit Giasson, PhD
9:50‐10:20 am Jennifer Phillips‐Cremins
University of Pennsylvania
3D Epigenome reconfiguration in brain development and repeat expansion
disorders
10:20‐10:50 am Karen Miga, PhD
UCSC
Telomere‐to‐telomere assemblies of complete human chromosomes
10:50‐11:20 am Ryan Boudreau, PhD
University of Iowa
Macro‐mysteries of micro‐proteins in the nervous system and beyond
11:20 am ‐
12:00 pm
Short Talks Selected from
Abstracts
Four Trainees
(8 min each, 2 min questions)
Keril Poukalov, Quan fica on of CTG Repeat Length Distribu on in DM1 Prefrontal Cortex Using DNA Nanochannel Imaging
Rahul Prabhu, Detec ng Aggrega on‐Driving Protein Interac ons Using Efficient Atlasing and Search of Assembly Landcapes (EASAL)
Shu Guo, Nuclear Export inhibitor KPT‐350 for therapy of C9orf72 ALS/FTD
Lien Nguyen, An body therapy targe ng RAN proteins rescues ALS/FTD in C9orf72 mouse model
12:00‐1:00 pm Lunch
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Day Three — Harn Museum January 17, 2020
Session 7 Microsatellite dynamics
Chair: Malu Tansey, PhD
1:00‐1:30 pm Jong‐Min Lee, PhD
Massachusetts General Hospital
CAG repeat, not polyQ tract, determines timing of onset in HD
1:30‐2:00 pm Vanessa Wheeler, PhD
Harvard Medical School
Modifiers of Huntingtonʹs disease CAG repeat instability
2:00‐2:30 pm
Christopher Pearson, PhD
The Hospital for Sick Children and University of Toronto
Targeting repeat instability as a therapeutic strategy for microsatellite repeat expansion
2:30‐2:50 pm Coffee Break
Session 8 Therapeutic opportunities and horizons
Chair: David Borchelt, PhD
2:50‐3:20 pm Piyush Jain, PhD
University of Florida
Engineered CRISPR/Cas systems for improved gene editing and therapies
3:20‐3:50 pm Malú Gámez Tansey, Ph.D.
University of Florida
Chronic inflammation and neurodegenerative disease: risks and
therapeutic opportunities
3:50‐4:20 pm Beverly Davidson, PhD
University of Pennsylvania
Therapeutic approaches for repeat expansion diseases using AAV
4:20‐4:30 pm Eric Wang, PhD
University of Florida Short Talk Awards
4:30 pm Laura Ranum, PhD
University of Florida Closing Remarks
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Welcome Reception and Keynote Speaker
Wednesday, January 15, 2020
6:00‐9:00 PM at the Harm Museum
Cocktails & hors‐d’oeuvres will be served from 6pm until 6:45 pm
Welcome, Keynote Speaker and poster talks will be from 6:50 until 9 pm
Symposium registration packets will be available for pick‐up until 6:30 pm
Directions and Parking to the Harn Museum
The Harn Museum is directly across the street (east) from the Hilton. It is about a 5 minute walk
from the hotel. Parking is free at the Harn after 3:30 PM M‐F and on weekends.
To drive from the Hilton Hotel:
Turn right onto Hull Rd.
Go straight through the traffic light
Take first right into Harn Parking lot, Bledsoe Dr.
Address:
Harn Museum of Art (www.harm.ufl.edu)
SW 34th St and Hull Road
Gainesville, FL 32611
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Gala Dinner Information
Thursday, January 16, 2020 at Sweetwater Branch Inn
Cocktails & light hors d’oeuvres at 6:30 p.m.
Dinner at 7:30 p.m.
Directions and Parking to the Sweetwater Branch Inn
University Ave E
CGRC Hilton
Dinner will be held in McKenzie Hall. For past
Brainstorm Symposiums, attendees have carpooled to the gala
dinner. Don’t be shy to ask around for a ride and CNG members
will also be available for transportation. Announcements regard‐
ing rides will be made at the end of the last session on Thursday.
Parking for the dinner is on the north side of University Avenue.
To reach the dinner from the parking lot, cross University Ave and
walk between the blue and peach Victorian houses, follow the
brick drive to your right and enter over the small bridge.
Address:
Sweetwater Branch Inn
625 E University Avenue, Gainesville, FL 32601
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