Empower & Inspire:
Understanding and Accelerating Research for Leigh Syndrome
Thank you to the 228 participants from 34 countries who joined us virtually on
Tuesday, September 20, 2022. Read paper describing the conference HERE.
Brought to you by:
Cure Mito Foundation
&
integrative Cardiovascular Metabolism and Pathophysiology Laboratory (iCaMP) at Boston University
AGENDA
Eastern Standard Time (EST)
Central European Time (CET)
Title
Speaker
Description
9:00 - 9:15 AM
3:00 - 3:15 PM
Introduction
Kasey Woleben
Cure Mito Co-founder
9:15 - 10:00 AM
3:15 - 4:00 PM
Keynote: Advances in Leigh Syndrome Research: Sterling Past, Golden Future
Vamsi Mootha, MD
Professor, Harvard Medical School
Professor, Massachusetts General Hospital
Investigator, Howard Hughes Medical Institute
Member, Broad Institute of MIT and Harvard
In this talk Dr. Mootha will review past and recent progress in our understanding of the genetic and biochemical basis of Leigh syndrome. He will also discuss unique features of Leigh syndrome, combined with broader advances in the field of biomedicine that portend a brighter future for patients.
Followed by 10 min Q&A
Kasey Woleben to moderate Q&A with Dr. Mootha
10:00 - 10:25 AM
4:00 - 4:25 PM
Leigh Syndrome 101
Saima Kayani, MD
Child Neurologist, UT Southwestern Medical Center
Cure Mito Scientific & Medical Advisory Board Member
Dr. Kayani will give an overview of clinical, biochemical and neuro imaging findings, clinical diagnosis, and genetic etiologies of Leigh Syndrome
Followed by 10 min Q&A
RESEARCH
Moderator: Ethan Perlstein, PhD
CEO, Perlara PBC
Eastern Standard Time (EST)
Central European Time (CET)
Title
Speaker
Description
10:25 - 10:40 AM
4:25 - 4:40 PM
General Overview of Nervous System Targeted Gene Therapy
Steven Gray, PhD
Associate Professor, University of Texas Southwestern Medical Center
Cure Mito Scientific & Medical Advisory Board Member
In this talk Dr. Gray will briefly review the current state-of-the-art for using AAV vectors to target the nervous system. This will focus mainly on the utility and limitations of AAV9, which is being used in at least 17 ongoing gene therapy clinical trials targeting the nervous system.
10:40 - 10:55 AM
4:40 - 4:55 PM
Mitochondrial Genome Engineering in-Vivo
Michal Minczuk, PhD
Group Leader, University of Cambridge
Co-founder, Pretzel Therapeutics
Latest advances in the genetic modification of mammalian mtDNA will be presented including [1] the selective elimination of mutant mtDNA in living organisms, and [2] the installation of new mutations in mouse models.
10:55 - 11:10 AM
4:55 - 5:10 PM
Gaining Insights into Mitochondrial Diseases Using Stem Cells
Jessica L. Fetterman, PhD
Assistant Professor, Boston University School of Medicine
Dr. Fetterman will cover how we derive stem cells from a patient blood sample, how stem cells can be used to better understand what goes wrong in the cells of the body, and how we can use stem cells for therapeutic screening to create a tailored treatment approach for each patient.
11:10 - 11:25 AM
5:10 - 5:25 PM
Patient-derived stem cells and brain organoids for modeling and drug discovery of Leigh syndrome
Alessandro Prigione, MD, PhD
Professor, University of Düsseldorf, Germany
Cure Mito Scientific & Medical Advisory Board Member
Dr. Prigione will present ongoing efforts in using patient-derived and genetically modified stem cells to generate neuronal models and brain organoids to dissect the mechanisms of Leigh syndrome and possibly identify new treatment strategies.
11:25 - 11:40 PM
5:25 - 5:40 PM
Immune-mediated disease pathogenesis in Leigh syndrome
Simon Johnson, PhD
Assistant Professor, University of Washington
PI, Seattle Children’s Research Institute
Cure Mito Scientific & Medical Advisory Board Member
Dr. Johnson will discuss recently published and ongoing work which demonstrate that Leigh syndrome is an immune-mediated disease.
11:40 - 11:55 AM
5:40 - 5:55 PM
Applying a precision medicine drug discovery platform to SURF1 Leigh Syndrome
Joe Bellucci, PhD
Director, Scientific Partnerships, Rarebase
Dr. Joe Bellucci will introduce the Rarebase research platform, which leverages cutting-edge technology and biology to discover and develop treatments for the millions of people worldwide living with a rare disease.
11:55 AM - 12:10 PM
5:55 - 6:10 PM
Q&A with the speakers
Moderated by Ethan Perlstein, PhD
12:10 AM - 12:40 PM
6:10 - 6:40 PM
BREAK
UNDERSTANDING DRUG DEVELOPMENT
Moderator: Kevin Freiert, MBA
Principal, Salem Oaks Consulting
Cure Mito Patient Registry advisor
Eastern Standard Time (EST)
Central European Time (CET)
Title
Speaker
Description
12:40 - 12:55 PM
6:40 - 6:55 PM
Challenges in Drug Discovery for Mitochondrial Disorders
Anne Murphy, PhD
Vice President of Biology, Cytokinetics
Understanding of the hurdles for the development of treatments of mitochondria disorders can help shape future strategies.
12:55 - 1:10 PM
6:55 - 7:10 PM
Insights from over a decade of experience in mitochondrial disease drug development
Matthew Klein, MD, MS, FACS
Chief Operating Officer, PTC Therapeutics
PTC Therapeutics COO Dr. Matthew Klein will provide an overview of PTC’s mitochondrial disease programs and share experiences gained in over a decade of drug development for mitochondrial disease patients.
1:10 - 1:25 PM
7:10 - 7:25 PM
Development of New Drugs for Mitochondrial Diseases
with focus on Leigh Syndrome
Volkmar Weissig,ScD, PhD
Professor, Midwestern University
President, World Mitochondria Society
Cure Mito Scientific & Medical Advisory Board Member
In his talk, Dr. Weissig will give an overview over all currently ongoing or completed clinical trials involving the testing of new drug candidates for the treatment of Leigh Syndrome.
1:25 - 1:40 PM
7:25 - 7:40 PM
Q&A with the speakers
Moderated by Kevin Freiert, MBA
Accelerating Research Through Data
Moderator: Danielle Boyce, MPH, DPA
Assistant Professor, Johns Hopkins University School of Medicine
Cure Mito Scientific & Medical Advisory Board Member
Eastern Standard Time (EST)
Central European Time (CET)
Title
Speaker
Description
1:40 - 1:55 PM
7:40 - 7:55 PM
Leigh Syndrome Global Patient Registry updates
Sophia Zilber
Cure Mito Board member, Patient Registry director
This presentation will give an overview of Leigh Syndrome Global patient registry, what has been accomplished so far, and future direction.
1:55 - 2:10 PM
7:55 - 8:10 PM
CDISC and How Data Standards Can Help Drive Development of Mito Treatments
Rhonda Facile, MS
Vice President, Partnerships and Development, CDISC
This presentation will provide a brief introduction to CDISC standards, the regulatory requirement for their use in marketing applications, the need for standards. This talk will also inform attendees on CDISC’s Real World Data (RWD) activities and what resources are available now for researchers to use to help to bridge the gap between RWD and clinical trial data for regulatory submission.
2:10 - 2:25 PM
8:10 - 8:25 PM
Interoperability of Leigh Syndrome Patient Registry Data with Regulatory Submission Standards
Parag Shiralkar, MS, MBA
President, Sumptuous Data Sciences
This presentation gives an overview of project collaboration of Cure Mito Foundation and Sumptuous Data Sciences, LLC to establish interoperability of registry data with clinical data standards required by regulatory agencies.
2:25 - 2:40 PM
8:25 - 8:40 PM
The Rare Diseases Cures Accelerator Data and Analytics Platform: accelerating drug development for rare mitochondrial disorders.
Alexandre Bétourné, PhD, PharmD, PMP
Scientific Director, Critical Path Institute (C-Path)
The presentation will give a brief overview of the Rare Diseases program and platform of the Critical Path Institute (The Rare Diseases Cures Accelerator Data and Analytics Platform or RDCA), present an update on our current efforts for rare mitochondrial disorders, and discuss next steps.
2:40 - 2:55 PM
8:40 - 8:55 PM
SURF1-related Leigh Syndrome Health Data Insights
Shannon Rego O'Rourke, MS, CGC
Research Director, Allstripes
AllStripes Research director, Shannon Rego O'Rourke, will present new data from the SURF1-related Leigh Syndrome cohort, a partnership with CureMito, including insights into symptoms, age of onset and diagnosis, etc.
2:55 - 3:10 PM
8:55 - 9:10 PM
Q&A with the speakers
Moderated by Danielle Boyce, MPH, DPA
3:10 - 3:20 PM
9:10 - 9:20 PM
BREAK
caring for the caregiver
Moderator: Liz Morris
Courageous Parents Network: Parent & Caregiver Collaborator
Eastern Standard Time (EST)
Central European Time (CET)
Title
Speaker
Description
3:20 - 3:35 PM
9:20 - 9:35 PM
Parent panel
Jennifer Linnebach (USA)
Krisztina Ferencz (Romania)
Jorgelina Alvarez Barral (Argentina)
Parents will share their stories and experiences.
3:35 - 3:50 PM
9:35 - 9:50 PM
Parenting Children with Mitochondrial Disease: Finding Space for Parental Well-Being
Rachel Kramer, PhD
Clinical Psychologist, Private Practice
This talk will provide realistic, actionable strategies to help parents find ways to care for themselves in the context of the unique and intense stressors presented by parenting a child with mitochondrial disease.
3:50 - 4:00 PM
9:50 - 10:00 PM
Q&A with the speakers
Moderated by Liz Morris
4:00 - 4:10 PM
10:00 - 10:10 PM
Conclusion to the conference
Jessica L. Fetterman, PhD
Kasey Woleben
SPEAKERS
Vamsi Mootha, MD
Professor, Harvard Medical School
Professor, Massachusetts General Hospital
Investigator, Howard Hughes Medical Institute
Member, Broad Institute of MIT and Harvard
Steven Gray, PhD
Associate Professor, University of Texas Southwestern Medical Center
AlessandroPrigione, MD, PhD
Professor, University of Düsseldorf, Germany
Michal Minczuk, PhD
Group Leader, University of Cambridge
Co-founder, Pretzel Therapeutics
Simon Johnson, PhD
Assistant Professor, University of Washington
PI, Seattle
Children’s Research Institute
Saima Kayani, MD
Child Neurologist, UT Southwestern Medical Center
Jessica L. Fetterman, PhD
Assistant Professor, Boston University School of Medicine
Joe Bellucci, PhD
Director, Scientific Partnerships, Rarebase
Volkmar Weissig,ScD, PhD
Professor, Midwestern University
President, World Mitochondria Society
Anne Murphy, PhD
Vice President of Biology, Cytokinetics
Alexandre Bétourné, PhD, PharmD, PMP
Scientific Director, Critical Path Institute (C-Path)
Rhonda Facile, MS
Vice President, Partnerships and Development, CDISC
Parag Shiralkar, MS, MBA
President, Sumptuous Data Sciences
Rachel Kramer, PhD
Clinical Psychologist, Private Practice
Matthew Klein, MD, MS, FACS
Chief Operating Officer, PTC Therapeutics
Shannon Rego O'Rourke, MS, CGC
Research Director, Allstripes
THANK YOU TO OUR
SPONSORS
THANK YOU TO OUR
media partners
If you're presenting, sponsoring, or attending, please click relevant graphic below to download and share!
