EMPOWER & INSPIRE
3RD ANNUAL LEIGH SYNDROME SYMPOSIUM
JOIN US VIRTUALLY - SEPTEMBER 17, 2024
Live translation to 30+ languages will be available
Winners of the Color for Mito contest will be announced, all kids are invited to participate, please click HERE for details.
Brought to you by:
Cure Mito Foundation
&
integrative Cardiovascular Metabolism and Pathophysiology Laboratory (iCaMP) at Boston University
AGENDA
The times provided below are in Eastern Standard Time (EST). To convert these times to your local time zone, click HERE to use the time zone converter.
Time (EST)
Title
Speaker
Description
9 - 9:10 am
Introduction
Kasey Woleben
Cure Mito Co-founder
9:10-9:25 am
Keynote: From the Diagnosis to the Cure: a patient/ scientist perspective
Sammy Basso, MS
Spokesperson, Associazione Italiana Progeria
International Ambassador and Scientific Consultant, Progeria Research Foundation
Councilman, Italian Network for Laminopathies
Research Fellow, National Research Council of Italy, Institute of Molecular Genetics
Sammy was diagnosed with Progeria when he was two year-old. Now he is 28, and chose to be a scientist for studying is own disease. As a researcher and patient advocate, he will talk about the 25 years of science that is working now for a genetic cure and the pivotal role that families and patient had and are having on it.
9:25-9:40 am
Singing for Aadya
Anju Govind
Parent
Aadya is a 8 year old who was diagnosed with SURF1 Leigh Syndrome. This talk is to share Aadya's journey - from her diagnosis to her present day.
9:40-9:50 am
Q&A with speakers
RESEARCh and clinical care
Moderator: Jessica Fetterman, PhD
Assistant Professor, Boston University School of Medicine
10 - 10:15 am
9:50-10:05 am
The SURF1 KO pig: A translational model to implement new therapeutic treatments for Leigh Syndrome
Dario Brunetti, PhD
Assistant Professor of Applied Medical Sciences
Department of Clinical Sciences and Community Health (DISCCO) University of Milan
Dr. Brunetti will discuss new molecular details that characterize the early stages of the disease and illustrate new therapeutic strategies.
10 - 10:15 am
10:05-10:20 am
Pre-clinical Stem Cell Models for Leigh Syndrome
Shilpa iYer, PhD
Associate Professor, University of Arkansas
The talk will focus on the generation and characterization of patient-specific stem cells exhibiting mitochondrial abnormalities.
10 - 10:15 am
10:20-10:35 am
Brain Organoids for Modeling Leigh Syndrome
Alessandro Prigione, MD, PhD
Professor, University of Düsseldorf, Germany
Dr. Prigione will present his team’s recent work on using patient-derived brain organoids to model Leigh syndrome and to identify possible drugs to be repositioned for the treatment of Leigh syndrome.
10 - 10:15 am
10:35-10:50 am
Advancing Understanding and Therapeutics for Leigh Syndrome Spectrum Disorder
Marni Falk, MD
Executive Director, Mitochondrial Medicine Frontier Program, Children's Hosptial of Philadelphia
Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania
In this talk, Dr. Falk will share updates on Gene Curation, Prospective Natural History Study, Preclinical Models, and Precision Therapeutic Trials.
10 - 10:15 am
10:50-11:05 am
Treatments for Mitochondrial Disease: Progress, Problems, and Priorities
Simon Johnson, PhD
Professor, Northumbria University
Professor Johnson will discuss recent pre-clinical advances in understanding and treating mitochondrial disease and the need for prioritization of therapeutics with the potential to benefit genetically diverse patient cohorts.
10 - 10:15 am
11:05-11:20 am
Developing Gene Therapies for Mitochondrial Diseases
Qinglan Ling, PhD
Assistant Professor, UMass Chan Medical School
The talk will give a broad overview of the past and future efforts on developing gene therapies for different mitochondrial diseases.
10 - 10:15 am
11:20-11:35 am
Energy Requirements in Patients with Mitochondrial Disease
Aneal Khan, MD
Aneal Khan, MSC, MD, FCCMG, FRCPC
Pediatrician and Medical Geneticist
M.A.G.I.C. Clinic Ltd., Calgary, Alberta, Canada
Discovery DNA, Calgary, Alberta, Canada
Rare Disease Network of Alberta
Dr. Khan will discuss the background on how energy metabolism is affected in mitochondrial disease, what we know from existing literature, the clinical experience and areas to explore in the future to help meet patient needs.
10 - 10:15 am
11:35 am -11:50 pm
Nutrition and Growth in Primary Mitochondrial Disease
Ibrahim Elsharkawi, MD
Assistant Professor, Icahn School of Medicine at Mt. Sinai
10 - 10:15 am
11:50 -12:05 pm
Patients First: Rapid prototyping with repurposed drugs to accelerate and clinically derisk therapeutics for Leigh syndrome
Richard Novak, PhD
CEO and Co-Founder, Unravel Biosciences, Inc.
Drug development suffers from a critical problem: the vast majority of drugs fail to be effective in patients despite strong preclinical data. Unravel has developed a new approach that starts with patients by noninvasively generating RNA profiles, identifying new drug targets and potential repurposed drugs using the BioNAV AI-enabled engine, and rapidly testing in patients using custom animal models and efficient clinical trials. We are analyzing Leigh syndrome patients with four different root cause genes to identify repurposed and new treatments.
10 - 10:15 am
12:05-12:20 pm
Discovery of potential new treatments for Leigh Syndrome
Chris Moxham, PhD
Founder, CEO and Chief Scientific Officer, Transcripta Bio
This talk will describe how Transcripta Bio is using its platform-based approach to discover and advance a potential new treatment for Leigh Syndrome.
10 - 10:15 am
12:20-12:35 pm
SURF1 Cure Odyssey
Ethan Perlstein, PhD
Founder/CEO Perlara PBC
Cofounder/CEO Maggie's Pearl
Dr. Perlstein will present yeast-powered drug repurposing results from the collaboration between Perlara and Cure Mito.
10 - 10:15 am
12:35-12:50 pm
Mitochondria transfer-based therapies reduce the morbidity and mortality of Leigh syndrome
Jonathan R. Brestoff, MD, PhD, MPH
Assistant Professor, Washington University School of Medicine
10 - 10:15 am
12:50:-1:05 pm
Cannabis-based Therapeutics: A Novel Multi-Target Approach for Leigh Syndrome
Emma Puighermanal, PhD
Institut de Neurociències, Universitat Autònoma de Barcelona, Bellaterra, Spain
Dr. Puighermanal will present her lab’s latest work on the beneficial effects of cannabidiol in preclinical models of Leigh syndrome and patient-derived cells.
10 - 10:15 am
1:05-1:15 pm
Q&A with the speakers - followed by 15 minutes break
Moderator: Jessica Fetterman, PhD
clinical trials, data sharing, and registry updates
Moderator: Danielle Boyce, MPH, DPA
Education Director, Biomedical and Health Data Science Collaborative, Tufts University School of Medicine
Lecturer, Johns Hopkins University School of Medicine
Professor, Adjunct, West Chester University College of Business and Public Management
Scientific & Medical Advisory Member, Cure Mito
1:30-1:45 pm
Accelerating Drug Development for Mitochondrial Diseases: A New Framework
Alexandre Bétourné, PhD, PharmD, PMP, Executive Director, Critical Path Institute
In this talk, Dr. Alexandre Bétourné will discuss the goals of C-Path’s Mitochondrial and Inherited Metabolic Diseases Task Force. She'll also highlight successful collaborations led by C-Path in other disease areas, highlighting the data shared, the accomplishments made, and how C-Path facilitates engagement between patient advocacy groups, industry representatives, clinicians, and the FDA in a neutral and collaborative environment.
1:45-2 pm
A new chemical entity (TTI-0102) for the treatment of glutathione-deficient mitochondrial diseases like Leigh syndrome and MELAS
Patrice Rioux, MD, PhD ,Co-founder, Director and Chief Executive Officer of Thiogenesis Therapeutics
A new chemical entity (TTI-0102) for the treatment of glutathione-deficient mitochondrial diseases like Leigh syndrome and MELAS. TTI-0102 is an oral prodrug providing a safe continuous concentration over 24 hours of cysteamine, which interacts with cystine to build GSH.
2:00-2:15 pm
Saol Therapeutics Clinical Trial Update
Dave Penake, CEO, Saol Therapeutics
Saol will provide an update on their current activities and completed clinical trial in Pyruvate Dehydrogenase Complex Deficiency (PDCD). Approximately 5-10% of people with Leigh’s Syndrome also have PDCD and 25-30% of people with PDCD have Leigh syndrome.
2:15-25 pm
Leigh syndrome patient registry updates
Sophia Zilber, Cure Mito Foundation
This talk will provide updates on the Leigh syndrome global registry, it's current status, and how researchers and industry can use the registry to accelerate treatments for Leigh syndrome.
2:25-2:35 pm
Alignment of Cure-Mito Patient Registry Data to OMOP-Common Data Model
Sushma Ghanta and Alekhya Ettamsetti
Statistical Programmers, Sumptuous Data Sciences
The alignment of Cure-Mito Patient Registry data to the Observational Medical Outcomes Partnership (OMOP) Common Data Model (CDM) is essential for generating real-world evidence, particularly in rare diseases. This process involves transforming registry data to the OMOP CDM format, introducing custom target concepts, imputing missing dates, and establishing efficient collaborations between researchers and federal agencies. The resulting OMOP CDM benefits regulatory agency reviews and provides analysis-ready data for deeper insights into patient care.
2:35-2:45 pm
Q&A
Moderator: Danielle Boyce, MPH, DPA
conclusion
2:45-3 pm
Together We Thrive: How Parents and Community Create Change in Rare Disease Advocacy
Effie Parks, Once Upon a Gene
3-3:10 pm
Conclusion
Kasey Woleben, Jessica Fetterman, PhD
CONFIRMED SPEAKERS
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Sammy Basso, MS
Keynote speaker
Progeria Research Foundation
Alessandro Prigione, MD, PhD
Professor, University of Düsseldorf, Germany
Qinglan Ling, PhD
Assistant Professor, UMass Chan Medical School
Richard Novak, PhD
CEO and Co-FounderUnravel Biosciences
Ibrahim Elsharkawi, MD
Assistant Professor, Icahn School of Medicine at Mt. Sinai
Dario Brunetti, PhD
Assistant Professor of Applied Medical Sciences
Department of Clinical Sciences and Community Health (DISCCO)
University of Milan
Simon Johnson, PhD
Professor, Northumbria University
Aneal Khan, MD
Medical Geneticist, Magic Clinic
Shilpa iYer, PhD
Associate Professor, University of Arkansas
Marni Falk, MD
Executive Director, Mitochondrial Medicine Frontier Program, Children's Hosptial of Philadelphia
Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania
Chris Moxham PhD
Founder, CEO and Chief Scientific Officer
Transcripta Bio
Anju Govind
Parent
Dave Penake
CEO, Saol Therapeutics
Jonathan R. Brestoff, MD, PhD, MPH
Assistant Professor, Washington University School of Medicine
Effie Parks
Host, Once Upon a Gene Podcast
Patrice Rioux, MD, PhD
Co-founder, Director and Chief Executive Officer of Thiogenesis Therapeutics
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Alexandre Bétourné, PhD, PharmD, PMP
Executive Director, Critical Path Institute
Jessica L. Fetterman, PhD
Assistant Professor, Boston University School of Medicine
Ethan Perlstein, PhD
Founder/CEO Perlara PBC
Cofounder/CEO Maggie's Pearl
Sushma Ghanta
Statistical Programmer, Sumptuous Data Sciences
Alekhya Ettamsetti
Statistical Programmer, Sumptuous Data Sciences
Emma Puighermanal, PhD
Institut de Neurociències, Universitat Autònoma de Barcelona, Bellaterra, Spain
Kasey Woleben
Co-Founder, Cure Mito Foundation
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Sophia Zilber
Board member, patient registry director, Cure Mito Foundation
THANK YOU TO OUR SPONSORS
THANK YOU TO OUR media partners
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To view conference 2023 agenda and recordings, please click HERE
To view conference 2022 agenda and recordings, please click HERE
The following sponsorship levels are available:
Inspiration sponsorship $1000:
Logo on the conference website
Recognition in conference communications and social media
Empowerment sponsorship $3000:
All benefits of Inspiration sponsorship
Separate thank you social media post (Facebook, LinkedIn, Instagram, Twitter)
Hope sponsorship $5000:
All benefits of Empowerment sponsorship
Sponsor's materials (such as PDF) can be downloaded from conference website
Acknowledgement during conference opening and closing sessions.
Customized sponsorship
Please contact us at info@curemito.org