Cystinosis Families Together Again
Thursday, April 4 - Saturday, April 6, 2024
Catamaran Resort Hotel and Spa
3999 Mission Boulevard, San Diego, CA 92109
CRF Day of Hope Family Conference
2024 Day of Hope, San Diego, California
The Day of Hope Conference was three jam-packed days filled with cystinosis research information and education, renewing old friendships and making new ones while creating heartwarming memories with our cystinosis community! Each year we come together to strengthen the bonds that created this remarkable research community and renew our commitment to finding better treatments and a cure.
Leading CRF-funded researchers presented updates on topics that included stem cell and gene therapy, ocular cystinosis, kidney disease, neurological issues, myopathy, and muscle wasting.
If you were unable to join us this year, you can still learn about the most recent research progress by downloading the speaker’s lay abstracts. Recorded research presentations are being edited and will be posted to the Day of Hope webpage for viewing the week of April 15.
Thank you for joining us, we look forward to seeing you next year!
Conference Overview
THURSDAY AFTERNOON
Registration Opens
Welcome and Introductions
Mexican Fiesta Dinner
FRIDAY
Family Breakfast
Children’s Activities
Conference Sessions
Family Lunch
Conference Sessions
Dinner Under the Stars
SATURDAY
Family Breakfast
Children’s Activities
Conference Sessions
Family Lunch
Day of Hope Conference Presenter Abstracts
Click Presentation Title to Download Abstract (PDF)
Cystinosis: The Building Blocks
Stephen Jenkins, MD, CRF Trustee
University of Utah Hospital
Cystinosis, The Early Years: Fanconi Syndrome and More
Larry Greenbaum, MD, PhD
Emory University School of Medicine and Children’s Healthcare
The Changing Face of Cystinosis from Childhood to Adulthood
Julian Midgley, BM, BCh
Alberta Children’s Hospital
Advances in Kidney Care and Transplantation
Paul Grimm, MD
Stanford University/Lucile Packard Children’s Hospital
Regenerating Kidney Tissue to Combat Nephropathic Cystinosis
Benjamin Freedman, PhD
University of Washington
Current Ocular Therapy for Cystinosis
Donny Suh, MD, FAAP, MBA, FACS
Gavin Herbert Eye Institute at University of California, Irvine
Development of a Controlled Release Cysteamine Eye Drop for Corneal Cystinosis
Morgan DiLeo, PhD
University of Pittsburgh, School of Medicine
CCIR: Be Part of the Cure
Clay Emerson, PhD, PE, CRF Trustee
Translational Approaches for Cystinosis, New Targets, Same Hope
Sergio Catz, PhD
The Scripps Research Institute
Preclinical Studies on New Treatments for Cystinosis in Cystinotic Rats
Jennifer Hollywood, PhD
University of Auckland, New Zealand
Why Patient Voices Matter: Cystinosis & Revolutionizing Gene Therapies for Rare Diseases and Beyond
Betty Cabrera, MPH
University of California, San Diego
Phase 1/2 Clinical Trial of Autologous Hematopoietic Stem and Progenitor Cell Gene Therapy for Cystinosis
Stéphanie Cherqui, PhD
University of California, San Diego
Illuminating Novel Molecular Mechanisms of Lysosomes in Cystinosis to Uncover Therapeutic Targets
Lauren Albrecht, PhD
University of California, Irvine
Intracellular Cystine Measurement. What is Normal?
Bruce Barshop, MD, PhD
University of California, San Diego
An mRNA/Lipid-Nanoparticle Strategy to Treat Cystinosis
Paul Goodyer, MD
McGill University Health Center in Montreal, Canada
Day of Hope Conference Agenda and Presenter Abstracts
Thursday, April 4th
3:00 PM – 8:00 PM
Conference Registration Check-in
Kon Tiki Ballroom Foyer
4:00 PM – 6:30 PM
Childcare Hours
Garden Suite 500 (ages 0 – 3)
Rousseau Suite East/West (ages 4 – 7)
Rousseau Suite Center (ages 8 – 12)
4:30 PM – 6:30 PM
Family Introductions
Kon Tiki Ballroom
Teresa and Kevin Partington, CRF Trustees
6:30 PM – 9:00 PM
Fiesta Dinner Reception
Beach North Lawn
Friday, April 5th
6:30 AM – 8:00 AM
Breakfast
Aviary Ballroom
7:30 AM – 12:15 PM
Childcare Hours
Garden Suite 500 (ages 0 – 3)
Rousseau Suite East/West (ages 4 – 7)
Rousseau Suite Center (ages 8 – 12)
Presentation Sessions
Kon Tiki Ballroom
Moderator: CRF Trustee - Jill Emerson
8:00 AM – 8:20 AM
Cystinosis Research Foundation: Soaring to New Heights
Nancy Stack, President, Cystinosis Research Foundation
8:25 AM – 8:50 AM
Cystinosis: The Building Blocks
Stephen Jenkins, MD, CRF Trustee
University of Utah Hospital
8:55 AM – 9:20 AM
Cystinosis, The Early Years: Fanconi Syndrome and More
Larry Greenbaum, MD, PhD
Emory University School of Medicine and Children’s Healthcare
9:25 AM – 9:50 AM
The Changing Face of Cystinosis from Childhood to Adulthood
Julian Midgley, BM, BCh
Alberta Children’s Hospital
9:55 AM – 10:10 AM
Break
Kon Tiki Ballroom Foyer
Presentation Sessions
Kon Tiki Ballroom
Moderator: CRF Trustee - Denice Flerchinger
10:15 AM – 10:45 AM
Advances in Kidney Care and Transplantation
Paul Grimm, MD
Stanford University/Lucile Packard Children’s Hospital
10:50 AM – 11:15 AM
Regenerating Kidney Tissue to Combat Nephropathic Cystinosis
Benjamin Freedman, PhD
University of Washington
11:20 AM – 11:35 AM
Current Ocular Therapy for Cystinosis
Donny Suh, MD, FAAP, MBA, FACS
Gavin Herbert Eye Institute at University of California, Irvine
11:40 AM – 11:55 AM
Development of a Controlled Release Cysteamine Eye Drop for Corneal Cystinosis
Morgan DiLeo, PhD
University of Pittsburgh, School of Medicine
12:00 PM – 1:00 PM
Lunch
Beach North Lawn
12:50 PM – 4:45 PM
Childcare Hours
Garden Suite 500 (ages 0 – 3)
Rousseau Suite East/West (ages 4 – 7)
Rousseau Suite Center (ages 8 – 12)
Presentation Sessions
Kon Tiki Ballroom
Moderator: CRF Trustee - Clay Emerson
1:00 PM – 1:10 PM
CCIR: Be Part of the Cure
Clay Emerson, PhD, PE, CRF Trustee
1:15 PM – 1:35 PM
Translational Approaches for Cystinosis, New Targets, Same Hope
Sergio Catz, PhD
The Scripps Research Institute
1:40 PM – 2:05 PM
Preclinical Studies on New Treatments for Cystinosis in Cystinotic Rats
Jennifer Hollywood, PhD
University of Auckland, New Zealand
2:10 PM – 2:20 PM
Better Together
Leah and Devin Fehr
Warman, Saskatchewan, Canada
2:25 PM – 2:40 PM
Why Patient Voices Matter: Cystinosis & Revolutionizing Gene Therapies for Rare Diseases and Beyond
Betty Cabrera, MPH
University of California, San Diego
2:45 PM – 3:00 PM
Break
Kon Tiki Ballroom Foyer
Presentation Sessions
Kon Tiki Ballroom
Moderator: CRF Trustee - Dr. Stephen Jenkins
3:05 PM – 3:15 PM
Family Fundraising: At the Heart of it All
Kristen Murray – CRF Trustee
3:20 PM – 3:50 PM
Phase 1/2 Clinical Trial of Autologous Hematopoietic Stem and Progenitor Cell Gene Therapy for Cystinosis
Stéphanie Cherqui, PhD
University of California, San Diego
3:55 PM – 4:20 PM
Stem Cell Transplant Panel
Kurt Gillenberg, Jordan Janz, Tyler Joynt, Jacob Seachord
4:25 PM – 4:40 PM
What Have We Learned Today?
Teresa Partington – CRF Trustee
5:00 PM – 6:00 PM
Happy Hour Reunion – Adults with Cystinosis
Beach South Lawn
6:00 PM – 9:00 PM
BBQ Dinner Under the Stars
Beach North Lawn
Saturday, April 6th
6:30 AM – 8:00 AM
Breakfast
Aviary Ballroom
7:30 AM – 12:15 PM
Childcare Hours
Garden Suite 500 (ages 0 – 3)
Rousseau Suite East/West (ages 4 – 7)
Rousseau Suite Center (ages 8 – 12)
Presentation Sessions
Kon Tiki Ballroom
Moderator: CRF Trustee - Marcu Alexander
8:00 AM – 8:10 AM
Welcome
CRF Trustee: Brian Sturgis
8:15 AM – 8:30 AM
Illuminating Novel Molecular Mechanisms of Lysosomes in Cystinosis to Uncover Therapeutic Targets
Lauren Albrecht, PhD
University of California, Irvine
8:35 AM – 8:55 AM
Intracellular Cystine Measurement. What is Normal?
Bruce Barshop, MD, PhD
University of California, San Diego
9:00 AM – 9:20 AM
An mRNA/Lipid-Nanoparticle Strategy to Treat Cystinosis
Paul Goodyer, MD
McGill University Health Center in Montreal, Canada
9:25 AM – 9:35 AM
You Just Gotta Keep Livin’ Man! L – I – V – I – N
Henry Sturgis
Sandpoint, Idaho
9:40 AM – 9:55 AM
Break
Kon Tiki Ballroom Foyer
Break Out Sessions
10:05 AM – 11:05 AM
Parents of Children (ages 0 – 4)
Suite 308
Discussion Leader: Stephen Jenkins
10:05 AM – 11:05 AM
Parents of Children (ages 5 – 8)
Cockatoo Aviary Ballroom
Discussion Leader: Kristen Murray
10:05 AM – 11:05 AM P
Parents of Tweens (ages 9 – 12)
Kon Tiki Ballroom
Discussion Leaders: Jill and Clay Emerson
10:05 AM – 11:05 AM
Parents of Teens (ages 13 – 17)
Board Room East
Discussion Leaders: Marcu Alexander and Brian Sturgis
10:05 AM – 11:05 AM
Parents of Adults with Cystinosis
Macaw Aviary Ballroom
Discussion Leaders: Denice Flerchinger, Barb Kulyk and Nancy Stack
10:05 AM – 11:05 AM
Grandparents
Toucan Aviary Ballroom
Discussion Leaders: Diane and William Neumann
10:05 AM – 11:05 AM
Adults with Cystinosis and Partners
Board Room West
Discussion Leaders: Tina Flerchinger, Kurt Gillenberg, and Alex Stout
10:05 AM – 11:05 AM
Only Tweens and Teens with Cystinosis (ages 12 – 17)
Suite 200
Discussion Leader: Paul Grimm, MD
Presentation Sessions
Kon Tiki Ballroom
Moderator: CRF Trustees - Teresa and Kevin Partington and Stephen Jenkins
11:15 AM – 11:45 AM
Adult Panel
Geoffrey Couppey, Tina Flerchinger, Kurt Gillenberg, Jordan Janz, Tyler Joynt, Mack Maxwell, Jacob Seachord, Alex Stout, Bryan Stout, Heather Wegerif
11:50 AM – 12:05 PM
Conference Wrap-Up
Day of Hope Co-Chairs: Jill Emerson, Clay Emerson, Stephen Jenkins, Kristen Murray and Brian Sturgis
12:10 PM – 2:10 PM
Lunch
Beach North Lawn
Information Tables and Clinics
We encourage attendees to visit the Kon Tiki Foyer and speak to our pharma sponsor representatives regarding information or questions about their medications, and by volunteering to participate in a clinic or by signing up with CCIR you will help advance the cystinosis research progress. Tables are open before, after, and in between conference sessions:
Cure Cystinosis International Registry (CCIR): Volunteers Needed
Join the 171 families from around the world and enroll in the patient registry. The registry is a hub of information about cystinosis that helps the research and medical community understand more about cystinosis and its complications. Do your part! Visit with Clay Emerson to learn more and enroll.
Confocal Clinic: Volunteers Needed for Skin Imaging – Open During Conference Sessions
Dr. Cherqui is conducting a research study to monitor the evolution of the quantity of cystine crystals in the skin using a confocal microscope imaging. If you have questions and/or are interested in participating, please visit Anne Sawyers who will be at the confocal table or contact Anne at amsawyers@health.ucsd.edu.
Dr. Beno Freedman Clinic: Volunteers Needed for Urine Specimens – Open Friday During Conference Sessions – Saturday for Urine Dropoff Before 8:00 AM Only
The goal of this CRF project is to use human mini-kidneys as surrogates for patients, to explore the potential of kidney regeneration, gene therapy, and drug discovery for cystinosis. We are seeking to recruit patients with cystinosis and turn their urine into stem cells and kidney grafts, which we will test for transplant ability. Study participation is on a purely volunteer basis and is free of charge without compensation. If you are interested in joining the study, or have questions about it, please talk to Dr. Freedman for more information. Dr. Freedman can also be contacted at benof@uw.edu with any inquiries.
Thank You to Our Sponsors
We are especially grateful to our dedicated Day of Hope co-chairs who spent countless hours planning and organizing an outstanding conference. Thank You!
Clay Emerson, PhD, PE, CFM, Hope for Brooke, CRF Board Member
Jill Emerson, CPA, Hope for Brooke, CRF Board Member
Stephen Jenkins, MD, Sam’s Hope for a Cure, CRF Board Member
Kristen Murray, Seth’s Circle of Hope, CRF Board Member
Brian Sturgis, 24 Hours for Hank, CRF Board Member
Questions? Email: info@cystinosisresearch.org
