PRF BY THE NUMBERS - PRODUCED BY LESLIE B. GORDON, MD, PHD; MEDICAL DIRECTOR - THE PROGERIA RESEARCH FOUNDATION
←
→
Page content transcription
If your browser does not render page correctly, please read the page content below
PRF By The Numbers
Produced by Leslie B. Gordon, MD, PhD; Medical Director
Please Do Not Reproduce Children’s Photographs Without Express Permission From PRF July 1, 2022
Table of Contents
Introduction and Collaborations 3 – 10
Overview Data 11 -20
International Progeria Registry 21 – 24
PRF Diagnostics Program 25 – 28
PRF Cell & Tissue Bank 29 – 38
PRF Medical & Research Database 39 – 43
Weighing – In Program 44 – 47
Clinical Trials 48 – 58
PRF Grants Program 59 – 64
Scientific Meetings and Workshops 65 – 68
Publications 69 - 71
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022
PRF By The Numbers: A Data Sharing Tool
PRF By The Numbers is a data sharing tool originating from
The Progeria Research Foundation’s programs and services.
We translate information collected within our programs and
services, and develop charts and graphs which track our
progress from year to year.
This allows you to assess where we’ve been, and the
improvements we’ve made for children with Progeria.
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022
Why Sharing Data Is Essential
According to the National Institutes of Health:
“data sharing is essential for expedited translation of research
results into knowledge, products, and procedures to improve
human health.”
http://grants.nih.gov/grants/guide/notice-files/NOT-OD-03-032.html
In other words, everyone benefits by knowing and learning as
much as possible about Progeria - the scientific and medical
communities, the public, and the children.
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022
PRF By The Numbers…Here’s How It Works
We take raw data collected through our programs and services,
remove any personal information to protect the participant, and
present it to you in a format that is engaging and informative.
PRF programs and services include:
The PRF International Registry
The PRF Diagnostics Program
The PRF Cell & Tissue Bank
The PRF Medical & Research Database
PRF Research Grants
Scientific Workshops
Clinical Trial Funding and Participation
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022
Our Target Audience
PRF By The Numbers is intended for a broad array of users
Families and children with Progeria
The general public and nonscientists of all ages
Scientists
Physicians
The media
This means that different types of slides will be of interest depending
on who is looking at the information. We have designed this slide
set so that you can pull out what is most important to you.
We love suggestions - if you don’t see some facts and figures here
that you think would be informative, please let us know at
info@progeriaresearch.org
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022
PRF Programs: It All Starts With The Children
Patient
Our participants
come from all over
the world. They find
Referral
us through our
outreach – the PRF
Internation
al Progeria
website, our
Registry publications,
television
Diagnostic documentaries, their
s Program
doctors, neighbors,
friends and family.
Cell & Medical &
Tissue Research
Bank Database
Weighing-
Preclinical
Research In Program
Clinical Trials
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022
Program Collaborations For Success
PRF Medical & Research Database
PRF Cell & TissueBank
PRF Cell & Tissue Bank Core PRF Diagnostics Program PRF Cell & Tissue Bank :
Laboratory Lymphoblast Cell Line
Generation
PRF Diagnostics Program
Sequencing Laboratory PRF Clinical Trials
PRF Cell Bank Submission: PRF Cell & Tissue Bank : iPS Cell
Immortalized Fibroblast Cell Lines Non-HGPS Progeroid Patient Line Generation
Diagnosis
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022
Our Program Collaborators
Our collaborating institutions are crucial to our ability to help children with Progeria.
We are extremely grateful for these ongoing partnerships:
Brown University
Location of The PRF Medical & Research Database
Program IRB approval
Hasbro Children’s Hospital
Location of The PRF Cell & Tissue Bank
Program IRB approval
PreventionGenetics
CLIA*-approved genetic sequence testing
Rutgers University Cell and DNA Repository
CLIA*-approved lymphoblast generation and distribution
University of Ottawa
Induced Pluripotent Stem Cell (iPSC)
CLIA*-approved generation and distribution
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022
Our Clinical Trial Collaborators
Our collaborating institutions are crucial to our ability
to help children with Progeria
Harvard University – Associated Hospitals:
Boston Children’s Hospital
Brigham and Women’s Hospital
Dana Farber Cancer Institute
NIH – funded Clinical and Translational
Study Unit at Boston Children’s Hospital
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Number of Living PRF-Identified Cases
July 1, 2022:
Total Number of Children with HGPS and PL** Worldwide: 203
131 HGPS* worldwide: 138
HGPS* in the United States: 18
/ 65
Progeroid Laminopathies** worldwide:
Progeroid Laminopathies** in the United States: 12
*Children in the HGPS category have a progerin-producing mutation in the LMNA gene
** Those in the Progeroid Laminopathy category have a mutation in the lamin pathway
but don’t produce progerin
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Afghanistan PRF-Identified People living with HGPS & PLs Japan
Algeria Kazakhstan
Argentina
Australia
Reside In 50 Countries Libya
Luxembourg
Bangladesh Mexico
Belgium Nepal
Brazil Netherlands
Canada Oman
China Palestine-Gaza
Colombia Pakistan
Denmark Peru
Dominican Republic Philippines
Egypt Poland
England Russia
France Serbia
Guyana South Africa
Germany South Korea
Honduras Spain
India Suriname
Indonesia Sweden
Iran Tajikistan
Iraq Turkey
Ireland Ukraine
Israel USA
Italy Vietnam
© 2022 The Progeria Research Foundation. All Rights Reserved July 1, 2022…and Speak 31 Languages
Arabic English Indonesian Nepali Serbian Urdu
Bengali Filipino Italian Pashto Spanish
Cebuano French Japanese Polish Tagalog
Chinese German Kannada Portuguese Tamil
Danish Hebrew Korean Punjabi Turkish
Dutch Hindi Marathi Russian Ukrainian
прогерии исследовательский фонд
조로증 연구 재단
خايشال ثاحبأ ةسسؤم
早衰症研究基金會 Progeria Araştırma Vakfı
Progeria रिसिच फाउं डे शन 早老症研究財団
బాలుడ బాలికవయస్సముదరుకండానేవృద్ాాప్యరూప్ంలోనికి
వచ్చుటరీసెర్చుఫ ండేషన్
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Every
EveryYear
Year OurOur Numbers
Numbers Grow Option Grow
Living Children PRF has identified with Progeria and the countries they reside in from 2000 - 2016
120
112
107
Countries
100
100 Progeria Cases*
Column1 90
Number of Children and Countries
86 86
80 78
60
52 54
44 45 46 46 44
41 43
37 39
40 35 35
34
30 29 30 31 29
26
22
17 17 18 19 19
20 16
0
2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016
* Progeria cases: Total number of known cases include both HGPS & PL Year
* When a child passes away, numbers are decreased. July 1, 2022Every
EveryYear
Year OurOur Numbers
Numbers Grow Option Grow
Living Children PRF has identified with Progeria and Progeroid Laminopathies and the countries they
160 reside in from 2017 – 2022*
Countries 138
140
131 132
HGPS 128
PL 120
120
Number of Children and Countries
112
100
80
64 65
60 57
51 52 50 50
48
45
36 38
40
32
20
0
2017 2018 2019 2020 2021 Jul,2022
* Total number of living children are added from year to year. Year
* When a child passes away, numbers are decreased.Tracking Children with Progeria Through Prevalence
How does PRF estimate how many children we are searching for,
and in what countries? We use population prevalence.
Prevalence is the proportion of children with Progeria per total
population.
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022How Prevalence Is Estimated
At PRF, we use a formula based on the number of children
we’ve identified in the US. We then expand that out to the
world population.
We do this because we have the most complete reporting for
the US and since Progeria has no gender, ethnic, or other
biases, we assume that the prevalence in the US is the
same prevalence in other countries.
PRF estimates prevalence for years when the official US
census provides a reliable population number.
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022USA Prevalence of Progeria
July, 2022 population statistics:
The US population was:
334,895,508 people
Number of PRF-identified children with
HGPS in the US:
18
Prevalence of HGPS in the US:
18 in 335 million is about
1 in 19 million people
*estimates routinely fall between 1 in 18 - 1 in 20 million people.
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Prevalence and World Population of Progeria
Given the world population July, 2022
There are between 350 and 450 children living with Progeria worldwide
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Using Prevalence To Find Children In A Certain Country
We can now use the total population estimates for any given country, in order to
understand whether we have found most or all children in a particular country.
For example, as of July 2022:
Brazil’s population was estimated as
215,598,479 people
Using Prevalence, the number of children living
with Progeria in Brazil is 215,598,479/19,000,000 = 11
PRF has identified 7 of these 11 children, and is
searching for the 4 others
* Data based on the latest Worldometers estimates
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022International Progeria Registry*
Program Goals:
Patient identification
Outreach to patient families and their physicians
A springboard for program enrollment
Registry forms available at
https://www.progeriaresearch.org/international-registry-2/
*PRF International Registry includes those with genetically confirmed or
clinically suspected Progeria, as well as those with other possible progeroid
syndromes
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022356 Children Have Been Registered With PRF
380
356
360 349
340
319
320
300 285
280
Number of Registrants
269
260 254
241
240
224
220 208
200 193
181
180
160
160 151
140 129
118
120
102
100
82
80
61
60 54
36
40
20 20
20
0
2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 Jul,
Year 2022
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022From 70 Countries and 1 Territory
Algeria Libya, Luxembourg
Argentina Malaysia, Mexico
Australia Morocco, Nepal
Bangladesh Netherlands
Belgium, Bolivia Oman, Pakistan
Brazil, Bulgaria Palestine
Canada, Chile Papua New Guinea
China, Colombia Panama
Czech Republic Peru, Philippines
Denmark Poland, Portugal
Dominican Republic Puerto Rico
Ecuador, Egypt Romania, Russia
England, Finland Saudi Arabia
France, Germany Serbia, South Africa
Guatemala, Guyana South Korea
Honduras Spain, Sri Lanka
Hong Kong Suriname, Sweden
India, Indonesia Switzerland,
Iran, Iraq Tanzania
Ireland, Israel Thailand, Togo
Italy, Japan, Turkey, Ukraine
Kazahkstan, USA, Venezuela
Kyrgyzstan Vietnam
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022…And All Continents
Participation (%) By Continent
Africa Australia
6.7% 1.7%
N=24 N=6
South America
15.4
N=55
Europe
Asia 15.7%
N=56
36%
N=128
North America
24.5%
N=87
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022PRF Diagnostics Program
Program Goal:
Genetic Sequence Testing for Progeria-causing mutations
Pre-requisites for Testing:
Registration with PRF International Registry
One or more of the following
Family history – proband, prenatal
Phenotypic presentation – proband, postnatal
Relative of positive proband
Testing information available at:
https://www.progeriaresearch.org/the-prf-diagnostic-testing-program/
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Diagnostics Testing Summary
July, 2022:
Total Number of Proband Tests Performed: 164
Exon 11 (HGPS) Mutations: 114
Other Progeroid Laminopathies (Exons 1 – 12): 13
Zmpste24 Mutations : 2
Average Number of Patients Tested Per Year : 8.2
All tests are performed in a Clinical Laboratory Improvement Amendments (CLIA) certified facility.
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Mutations Identified Through PRF Diagnostics Program
Progerin Number
DNA Mutation Amino Acid Effect Zygosity
Producing? Diagnosed
Classic HGPS – LMNA Mutation
1824 C>T, exon 11 G608G heterozygous Yes 100
Non Classic HGPS– LMNA Mutation
1822 G>A, exon 11 G608S heterozygous Yes 4
1821 G>A, exon 11 V607V heterozygous Yes 2
1868 C>G, exon 11 T623S heterozygous Yes 1
1968+5 G>C, intron 11 --------- heterozygous Yes 2
1968+1 G>C, intron 11 --------- heterozygous Yes 3
1968+2 T>A, intron 11 heterozygous Yes 1
1968+1 G>A, intron 11 heterozygous Yes 1
Progeroid Laminopathy– LMNA Mutation
1579 C>T, exon 9 A527C heterozygous No 1
1579 C>T, exon 9 A527C homozygous No 6
1580G>T, exon9 A527L Homozygous No 2
1619 T>C, exon 10 M540T homozygous No 3
331 G>A, exon 1 G111L heterozygous No 1
Progeroid Laminopathy– Zmpste24 Mutation
1274T>C, exon 10 L425P homozygous No 2
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Longitudinal Testing Data for PRF Diagnostics Program
Number of Affected Children/Adults Tested and the Number Testing
Positive for LMNA Gene Mutation*
Total Testing LMNA Negative Total Testing LMNA Positive Total Clinically Affected Tested by PRF
180 164
159
160 148 152
139 141
140 127
123
Number Tested
116
120 111
105
99
100 88 122 127
80 113 116
75 107 108
80 67 94 97
82 87
54 71 76
60 62
51 56
40 46
37
20 32 33 35 36 37 37
21 24 24 26 28 29 29 29 29 30
17
0
2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 Jul,
2022
*Graph does not include Parents/Siblings tested Year
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022PRF Cell & Tissue Bank
Program Goals:
Provide a resource for researchers
worldwide
Ensure the sufficient availability of
genetic and biological materials
essential for research aimed at
understanding the pathophysiology of
disease and the links between
Progeria, aging and heart disease
Obtain long-term clinical data
Resource information available at: https://www.progeriaresearch.org/cell-and-tissue-bank/
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022PRF Cell & Tissue Bank Holdings
As of July, 2022
Total Number of Participants: 333*
74 Dermal Fibroblast Lines from 49 affected and 25 parents
6 Immortalized Fibroblast Cell Lines from 1 affected and 5 parents
124 Lymphoblast Lines from 71 affected, 45 parents and 8 siblings
10 Induced Pluripotent Stem Cell Lines from 5 affected and 5 parents
* Participants may have donated multiple times
© 2022 The Progeria Research Foundation. All Rights Reserved. * Additional sample types are available for special projects upon requestMutations Available in PRF Cell & Tissue Bank
Progerin Cell Type
DNA Mutation Amino Acid Effect Zygosity DFN=Dermal Fibroblast
Producing? LBV= Lymphoblast
Classic HGPS – LMNA Mutation
c.1824 C>T, exon 11 p.G608G heterozygous Yes DFN, LBV, iPSC
Non Classic HGPS– LMNA Mutation
c.1822 G>A, exon 11 p.G608S heterozygous Yes DFN, LBV
c.1821 G>A, exon 11 p.V607V heterozygous Yes DFN
c.1868 C>G, exon 11 p.T623S heterozygous Yes LBV
c.1968+5 G>C, intron 11 --------- heterozygous Yes DFN
c.1968+5 G>A, intron 11 --------- heterozygous Yes DFN
c.1968+1 G>A, intron 11 --------- heterozygous Yes LBV
c.1968+2 T>C, exon 11 --------- heterozygous Yes DFN
c.1968+2 T>C, exon 11 & c.1968+2 T>A, exon 11 --------- heterozygous Yes DFN
Progeroid Laminopathy– LMNA Mutation
c.1579 C>T, exon 9 p.A527C heterozygous No LBV
c.1579 C>T, exon 9 p.A527C homozygous No LBV
c.1580 C>T, exon 9 p.A527L homozygous No LBV
c.1619 T>C, exon 10 p.M540T homozygous No DFN
c.1762 T>C, exon 11 p.C588R heterozygous No DFN
c.412G>A p.E138K heterozygous No DFN
c.973 G>A, exon 6 p.A325A heterozygous No DFN
c.1824 C>T, exon 11 & SMC3 c.562 A>G p.G608G & p.K188E heterozygous Yes DFN
Progeroid Laminopathy– Zmpste24 Mutation
c.1274 T>C, exon 10 p.L425P homozygous No DFN, LBV
c.743 C>T, exon 6 & c.1349 G>A, exon 10 p.P248L & p.T450S heterozygous No DFNPRF Cell & Tissue Bank Distribution
As of July 1, 2022:
218 Research Teams From 26 Countries Have Received
Cell Lines
DNA Samples
Tissue, plasma, serum Senescent Progeria
and other biological samples Fibroblasts in Culture
Lonafarnib Samples
© 2020 The Progeria Research Foundation. All Rights Reserved.Number Of Cell Lines By Year
Total Cell Lines Parents/Siblings Cumulative
Total Cell Lines Affected Cumulative
Total Number of Cell Lines
250
209 212 212 213 214
203
197
200 190 194 194 123 124 124 125 125
121
Number of Cell Lines
116 116 118
165 112
153
150 100
126 92
116
108
98 80
90 74
100 69
79 62
62 54 86 88 88 88 88
44 78 78 78 79 82
50 37 29 61 65
42 46
17 35 36 36 39
33
20
0
Year
© 2022 The Progeria Research Foundation. All Rights Reserved.Cumulative Number of Biological Samples Distributed
2500
Fibroblast Lines Lymphoblast Lines iPSC Lines
Immortalized Fibroblast Lines Plasma, serum, tissue, buffy coat, urine DNA
2087
2042
Lonafarnib # = Total Distributed
2000 1899
1798
1528
1500 1385
1116
1000
871
692
579
517
500 422
330 359
251
90 107 119
40 58
20
0
2002 2003 2004 2005 2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 Jun-22USA Cell & Tissue Bank Recipients
Recipient Institution Recipient Institution
H. Erbil Abaci Columbia University Medical Center Dennis Discher U. of Pennsylvania
Mansoor Amiji Northeastern University Martin Dorf Harvard Medical School
Angelika Amon Massachusetts Institute of Technology Stephen Doxsey U. of Massachusetts Medical School
Stelios Andreadis U. of Buffalo Jack Elias Brown University School of Medicine
Samuel Beck MDI Biolab Mike Erdos National Institutes of Health
Shelley Berger U of Pennsylvania Jed Fahey Johns Hopkins University
Bruce Blazer U. of Minnesota Toren Finkel NIH
Joseph Bonventre Brigham and Women’s Hospital Shridar Ganesan Cancer Institute of New Jersey
Demetrios Braddock Yale University Abhimanyu Garg U. of Texas Southwestern Medical Center
Jonathan Brown Vanderbilt University Glenn Gerhard Temple University
Ted Brown Institute for Basic Research (IBR) David Gilbert Florida State University
Mark Burkhard University of Wisconsin-Madison Thomas Glover U.of Michigan Medical School
Judy Campisi Buck Institute Robert Goldman Northwestern University
Kan Cao U. of Maryland Susana Gonzalo St. Louis School of Medicine
Suet Nee Chen University of Colorado Lilian Grigorian Cedars Sinai Medical Center
Li Chai Harvard University Gregg Gundersen Columbia University Medical Center
Francis Collins National Genome Research Institute Taekjip Ha Johns Hopkins University School of Medicine
Lucio Comai U. of Southern California Curtis Harris National Institutes of Health
Daniel Conway Virginia Commonwealth University Martin Hetzer Salk Institute
John Cooke Houston Methodist Research Institute Camila Hochman-Mendez Texas Heart Institute
Mauro Costa-Mattioli Liam Holt NYU Institute for Systems Genetics
Baylor College of Medicine
Adrienne Cox U. of North Carolina at Chapel Hill Steve Horvath UCLA
Greg Crawford Duke University Medical Center Johnny Huard U. of Texas Health Science Center at Houston
Antonei Csoka Howard University Jay Humphrey Yale University
Kris Dahl Carnegie Mellon University Kohta Ikegami The University of Chicago
George Daley Boston Children's Hospital Vishwanath Iyer U. of Texas Austin
Channing Der U. of North Carolina at Chapel Hill Jose Jalife University of Michigan
Mohanish Deshmukh U. of North Carolina at Chapel Hill David Kaplan Tufts University
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022USA Cell & Tissue Bank Recipients
Recipient Institution Recipient Institution
Timothy Kowalik U. of Massachusetts Medical School John Sedivy Brown University
Dmitri Krainc Massachusetts General Hospital Christian Sell Drexel University College of Medicine
Jan Lammerding Harvard University Jerry Shay UT Southwestern Medical Center
Dudley Lamming U of Wisconsin-Madison Jamila H Siamwala Brown University
Jeanne Lawrence U. of Massachusetts Medical School Andrew Sonis Boston Children's Hospital
Joan Lemire Tufts University School of Medicine Alexander Soukas Massachusetts General Hospital
Kam Leong Columbia University Kristoffer Svensson Avidity Biosciences, Inc
Jason Lieb U. of North Carolina at Chapel Hill Ronald St-Louis OVIBIO Corporation, Inc.
David Liu Harvard University Earl Stadtman National Heart, Lung & Blood Institute
Chengzu Long New York University School of Medicine Dylan Taatjes U. of Colorado
Shigemi Matsuyama Case Western Reserve University Marc Tatar Brown University
Rachel Patton McCord University of Tennessee Sanford Burnham Prebys Medical
Alexey Terskikh Discovery Institute
Andrew Mendelsohn Regenerative Sciences Institute Rajarajan Amirthalingam Thandavarayan Houston Methodist Research Institute
Susan Michaelis John Hopkins University School of Medicine Eduardo Torres
U of Massachusetts Medical School
Jeffrey Miner Washington University George Truskey Duke University
Tom Misteli National Cancer Institute Tetsuro Wakatsuki InvivoSciences, Inc
Ashby Morrison Stanford University Alan Waldman University of South Carolina
Marsha Moses Boston Children’s Hospital Kenneth Walsh University of Virginia
Elizabeth Nabel National Heart, Lung & Blood Institute Steve Warren Emory University School of Medicine
Timothy Osborne Sanford Burnham Medical Research Institute Howard Worman Columbia University
Junko Oshima U. of Washington Lucile Wrenshall Wright State University
Bryce Paschal U. of Virginia Tom Wight Hope Heart Institute
Hamel Patel U. Of California, San Diego Joseph Wu Stanford University
Mary Patti Joslin Diabetes Center Feng Zhang The Broad Institute
Taihao Quan University of Michigan Ke Zhang Northeastern University
Joseph Rabinowitz Temple University Yu Shrike Zhang Brigham and Women's Hospital
Ana Robles National Cancer Institute Alessandra Zonari OneSkin Technologies
David Sabatini Whitehead Institute You Zou East Tennessee UniversityInternational Cell & Tissue Bank Recipients
Recipient Institution Country Recipient Institution Country
AndreaAblasser Global Health Institute Switzerland Lino Ferreira Center for Neuroscience and Cell Biology (CNC) Portugal
Vicente Andrés Garcia Centro Nacional de Investigaciones Spain Marco Foiani Instituto FIRC di Oncologia Molecolare ItalyMartin
Cardiovasculares
Samuel Benchimol York University Canada Alain Garnier Université Laval Canada
Martin Bergö Karolinska Institutet Sweden Yosef Gruenbaum The Hebrew University of Jerusalem Israel
Enrico Bertini Ospedale Pediatrico Bambino Gesù Italy
Nady El Hajj Hamad bin Khalifa University Qatar
Michael Blank Bar Ilan University Israel Robert Hegele University of Western Ontario Canada
Antonio Campos de Federal University of Rio de Janeiro Brazil Andreas Hermann University of Dresden Germany
Carvalho
Ana Carrera Centro Nacional de Biotecnologia Spain Corinne Hoesli McGill University Canada
Gordon Chan University of Alberta Canada Junho K Hur Kyung Hee University Republic of Korea
INEBIR- Instituto par el estudio de la Anthony Hyman Max-Planck-Institute of Molecular Cell Biology and Germany
Mario D. Cordero Biologia de la Reproduccion Human Spain Genetics
Lynne Cox University of Oxford England Maria
Ikonomopoulou IMDEA Food Institute Spain
Thomas Dechat Medical University of Vienna Austria Ulrich auf dem Denmark
Keller Technical University of Denmark
Annachiara DeSandre- Laboratoire de Génétique Moléculaire France Jan Korbel European Molecular Biology Laboratory Germany
Giovannoli
Jerome Dejardon Institute of Human Genetics France Leonard Kubben Institute for Molecular Biology Germany
Karima Djabali TU-Munich Germany Christian Kubisch Institute of Human Genetics Germany
Ma Dongrui Singapore General Hospital Singapore Varun Kumar Uniklinikum Heidelberg Germany
J. El Molto Molecular World, Inc Canada Kirsztian Kvell University of Pecs Hungary
Maria Eriksson Medicinsk Naringslara Sweden Taejoon Kwon Ulsan National Institute of Science & Technology Korea
Christopher Eskiw Saskatchewan University Canada Chiara Lanzuolo CNR Institute of Cellular Biology & Italy
Neurobiology
Gerardo Ferbeyre Université de Montréal CanadaInternational Cell & Tissue Bank Recipients
Recipient Institution Country Recipient Institution Country
Caterina La Porta University of Milan Italy Bum-Joon Park Pusan National University South Korea
Center for Neuroscience and
Delphine Larrieu University of Cambridge England Luis Pereira de Almeida Cell Biology (CNC) Portugal
Lucia Latella National Research Council(CNR) Italy Fiorella Piemonte Ospedale Pediatrico BambinoGesù Italy
Giovanna Lattanzi ITOI-CNR Unit of Bologna Italy Neale Ridgway University of Halifax Canada
Seoul National University, College of
Chul-Hwan Lee Medicine South Korea Claudia Ruebe Saarland University Germany
Jean-Marc Lemaitre Institute of Functional Genomics France Kanaga Sabapathy National Cancer Centre Singaport Singapore
Davor Lessel Institute of Human Genetics Germany Isabella Saggio Sapienza University of Rome Italy
Nicolas Levy Génétique Médicale et Développement France Kanda Sangthongpitag Experimental TherapeuticsCentre Singapore
Ulsan National Institute of Science and
Chunghun Lim Technology South Korea Rafaella Santoro University of Zurich Switzerland
Baohua Liu Shenzhen University China Yasuhiro Shimoyima Shinshu University Japan
Elsa Logarinho Instituto de Biologia Molecular e Celular Portugal Ok Sarah Shin Korea University Guro Hospital Korea
Jun Lu Northeast NormalUniversity China Sanjay Sinha University of Cambridge England
Frank Lyko German Cancer Research Institute Germany Michael Speicher Medical University of Graz Austria
Thorston Marquart University of Münster Germany William Stanford University of Toronto Canada
Felipe AlonsoMassó National Institute of Cardiology Ignacio Michael Walter University of Münster Germany
Rojas Chávez Mexico
Scott Maynard Danish Cancer Society Research Institute Denmark Herbert Waldman Max Planck Institute Germany
Ohad Medalia University of Zurich Switzerland Miguel Weil Tel Aviv university Israel
Denis Mottet University of Liège Belgium Jesús Vazquez Cobos Haoyue Zhang Spain
Institute for Basic Science, Center for Genomic
Ulrich auf dem Keller Maastricht University The Netherlands
Kyungjae Myung Integrity (IBS-CGI) South Korea
Rivka Ofir Dead Sea and Arava Science Center Israel Haoyue Zhang Shenzhen Bay Laboratory China
Silvia Ortega-Gutiérrez Universidad de Complutense de Madrid Spain Alex Zhavoronkov Federal Clinical Research Centre Russia
Max Perutz Labs, Medical Universityof
Zhongjun Zhou University of Hong Kong China
Selma Osmanagic-Myers Vienna AustriaPRF Medical & Research Database
Program Goals:
Collect the patient health records for living and
deceased children with Progeria
Obtain long-term clinical data
Abstract data for longitudinal and cross-
sectional analyses
Better understand the clinical disease process
in Progeria and aging related diseases
Develop treatment strategies and
recommendations for health care professionals
and families
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022How The PRF Medical & Research Database Works
Project staff obtain the patient’s medical records and film
studies from birth throughout the participant’s lifespan.
Medical records include visits to: primary care physicians,
specialty physicians, hospital emergency rooms, hospital
admissions, dentists, physical therapy, occupational therapy
and school health records.
Retrospective data abstraction protocol allows for
specifically targeted or broad spectrum of data.
Enrollment information available at: https://www.progeriaresearch.org/medical-
database/
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Medical & Research Database Participation
Argentina 206 Participants are enrolled from countries and US territory Libya, Mexico
Australia Morocco, Nepal
Bangladesh Netherlands
Belgium Brazil Oman, Pakistan
Canada, Chile Peru, Philippines
China, Columbia Poland, Portugal
Denmark Puerto Rico
Dominica Republic Romania, Russia
Egypt, England Senegal, Serbia
France, Germany South Africa
Guatemala, South Korea
Guyana Spain, Sri Lanka
Honduras, India Suriname, Sweden
Indonesia, Ireland Tanzania, Togo
Israel, Italy Turkey, Ukraine
Japan, Kazakhstan USA, Venezuela
Vietnam
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Medical & Research Database Longitudinal Enrollment
250 Cumulative Number of Countries
Cumulative Number of Participants
206
Number of Participants and Countries
199
200 187
183
176
164
152
147
150
132
126
117
111
99
100
85
77
70
59
48
50 43
31 51 51 53 53
47 48
39 41 42 43
20 20 34 35 36
27 27 31
13 16 17 22
11 11
0
2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 Jul,
2022
Year
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Types Of Data Collected
Participants with Medical Records Reports: 166
Participants with Radiology Studies: 65
160°
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022PRF Weighing-In Program
A sub-program of The PRF Medical & Research Database
Collects weight-for-age data prospectively:
Home scale provided by PRF
Parents weigh child weekly or monthly
Report weights electronically
© 2022 The Progeria Research Foundation. All Rights Reserved.Weighing-In Program Participation
122 Participants are enrolled from countries and US territory
Argentina Nepal
Australia Pakistan
Bangladesh Peru
Belgium Philippines
Brazil Poland
Canada Portugal
China Puerto Rico
Colombia Romania
Denmark Russia
Dominion Republic Senegal
England South Africa
Germany South Korea
Guatemala Spain
Honduras Sri Lanka
India Togo
Indonesia Tanzania
Ireland Turkey
Israel Ukraine
Weighing in Participants Around the World
Italy As of July 1, 2019 USA
Japan Venezuela
Mexico Vietnam
Morocco
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Participants Enrolled In The PRF Weighing-In Program and
Countries of Residence
Number of Countries
140
Number Enrolled and Number of Number Enrolled 118
122
120
106
Countries (Cumulative)
99
100
88
77 80
80 74
60 56
49
44
40 43
39 42
34 37
29 30 31
20 24 26
20
0
2008 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018
Year
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Clinical Trials And The Weighing-In Program
Data from this program were key in the development of
primary outcome measure for the first drug treatment trial for
Progeria.
As of December 1, 2018, children from The PRF
Weighing-In Program have entered clinical treatment trials
using this data.
Failure to Thrive Starts Towards End of Year OnePRF-Funded Clinical Treatment Trials © 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022
Clinical Drug Treatment Trials
Goals:
To define the natural history of
HGPS in quantifiable terms
that will expand our ability to
measure treatment outcome
To assess the safety of new
treatments for HGPS
To measure effects of
treatments for children with
HGPS on disease status,
changes in health, and survival
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Current Therapeutic Intervention Strategies
Key Properties of
Preprogerin/Progerin
not farnesylated;
Farnesyl-PP + Preprogerin 1 terminal CaaX box
Farnesyl
Lonafarnib
transferase
Preprogerin 2 farnesylated
Zmpste24
farnesylated;
Preprogerin 3 terminal aaX cleaved
ICMT
farnesylated;
carboxymethylated
mTOR
Autophagy Progerin
Everolimus
Post-translational processing and medications currently under investigation in clinical treatment trials for
Progeria. Items in green = enzymes. Items in red = clinical trial medications that inhibit corresponding
enzymes. Lonafarnib is a farnesyltransferase inhibitor. Everolimus is a rapamycin analogue that inhibits
mTOR and promotes cellular autophagy. FT=farnesyltransferase.
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022PRF Funds Clinical Treatment Trials
Year Drug(s) Phase Location # Countries
2007-
Lonafarnib 2 Boston 29 16
2010
Lonafarnib
2009 Pravastatin Feasibility Boston 5 2
Zoledronate
Lonafarnib
2009 -
Pravastatin 2 Boston 45 24
2013
Zoledronate
2014 -
Lonafarnib 2 Boston 71 32
2021
2016 – Lonafarnib
1/2 Boston 60 27
present Everolimus
2018 - 55 from 28 countries enrolled
Lonafarnib 2 Boston
present as of July 1, 2022Participation in PRF Clinical Trials
Argentina Morocco
Australia 99 Children have participated in PRF Clinical Trials from 40 countries Pakistan
Belgium Peru
Brazil Philippines
Canada Poland
China Portugal
Colombia Romania
Denmark Russia
Dominican Republic Serbia
Egypt South Africa
England South Korea
Germany Spain
Honduras Sri Lanka
India Suriname
Israel Sweden
Italy Tanzania
Japan Togo
Libya Turkey
Mexico Ukraine
USA
Venezuela
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Clinical Treatment Trial Efficacy Results
Lonafarnib, a type of farnesyltransferase inhibitor (FTI) is our
first treatment for Progeria.
Results showed improvement in:
Rate of weight gain
Increased vascular distensibility
Improved bone structure
Better neurosensory hearing
Increased Lifespan
Gordon et al, PNAS, 2011
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Positive Effects of Lonafarnib (Zokinvy) on Progeria:
Results of PRF’s Clinical Treatment Trials
Average increased lifespan of 2.5 years
Increased vascular distensibility
Improved bone structure
Better neurosensory hearing
Modest increase in rate of weight gain
Gordon et al., PNAS, 2011 and
Gordon et al., JAMA, 2018
© 2022 The Progeria Research Foundation. All Rights Reserved. April 1, 20223 Ways to Access Lonafarnib (Zokinvy)
Zokinvy (lonafarnib) is an FDA approved drug in
the US. It is the current standard of care for
those with Progeria. It is available through
1. Prescription in the US
2. PRF’s clinical treatment trials
3. The manufacturer’s (Eiger) Managed
Access Program in select non-US
countries
We are far from finished!
We must forge ahead with increased intensity
and collaborative efforts to find additional
treatments, and the cure!Treatment Trial Collaborations For Success
The children are seen by physicians from:
Boston Children’s Hospital
Dana-Farber Cancer Institute
Brigham and Women’s Hospital
Data were also generated by scientists from:
Alpert Medical School at Brown University
Brown University School of Public Health
University of California Los Angeles
National Human Genome Research Institute
Schering-Plough Research Institute
Lonafarnib generously provided by Eiger
Everolimus generously provided by Novartis
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Clinical Trial Publications
Drug Effect:
Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome.
Gordon et al, JAMA, 2018, 319(16):1687-1695.
Survey of Plasma Proteins in Children with Progeria Pre-therapy and On-Therapy with Lonafarnib. Gordon et al, Pediatric Research,
2018 Jan 17. Epub Ahead of Print.
Clinical Trial of the Protein Farnesylation Inhibitors Lonafarnib, Pravastatin, and Zoledronic Acid in Children With Hutchinson-Gilford
Progeria Syndrome. Gordon et al, Circulation, 2016 Jul 12;134(2):114-25.
Seeking a Cure for One of the Rarest Diseases: Progeria. Collins FS. Circulation, 2016 Jul 12;134(2):126-9.
Impact of Farnesylation Inhibitors on Survival in Hutchinson-Gilford Progeria Syndrome. Gordon et al, Circulation, 2014 Jul 1;130(1):27-
34.
Moving from Gene Discovery to Clinical Trials in Hutchinson-Gilford Progeria Syndrome. King et al, Neurology, 2013 Jul 30;81(5):408-9.
Clinical Trial of a Farnesyltransferase Inhibitor in Children with Hutchinson-Gilford Progeria Syndrome. Gordon et al, Proceedings of the
National Academy of Sciences, 2012 Sep 24.
Neurologic Features of Hutchinson-Gilford Progeria Syndrome after Lonafarnib Treatment. Ullrich et al, Neurology, 2013, 81:427-430.
General:
Phenotype and Course of Hutchinson-Gilford Progeria Syndrome. Meredith et al, New England Journal of Medicine, 2008, 358(6): 592-
604.
Pubertal Progression in Adolescent Females with Progeria. Greer et al, Journal of Pediatric and Adolescent Gynecology, 2017 Dec 17.
Epub Ahead of Print.
Clonal hematopoiesis is not prevalent in Hutchinson-Gilford progeria syndrome. Díez-Díez, et al., GeroScience. published online ahead
of print, 2022 Jun 25.
Dermatology:
Initial Cutaneous Manifestations of Hutchinson-Gilford Progeria Syndrome. Rork et al, Pediatric Dermatology,2014,1-7.
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Clinical Trial Publications Continued
Dental:
Hutchinson-Gilford Progeria Syndrome: Oral and Craniofacial Phenotypes. Domingo et al, Oral Diseases, 2009, 15(3):187-195.
Cerebrovascular:
Imaging Characteristics of Cerebrovascular Arteriopathy and Stroke in Hutchinson-Gilford Progeria Syndrome. Silvera et al, American Journal of
Neuroradiology, 2013 May;34(5):1091-7.
Cardiology:
Cardiac Abnormalities in Patients With Hutchinson-Gilford Progeria Syndrome. Prakask, et al, JAMA Cardiology, 2018, Apr 17;115(16):4206-4211.
Mechanisms of Premature Vascular Aging in Children with Hutchinson-Gilford Progeria Syndrome. Gerhard-Herman M, et al., Hypertension. 2012
Jan;59(1):92-97; Epub 2011 Nov 14.
Skeletal:
Hutchinson-Gilford progeria is a skeletal dysplasia. Gordon,et al., Journal of Bone and Mineral Research. 2011Jul;26(7):1670-9.
A Prospective Study of Radiographic Manifestations in Hutchinson-Gilford Progeria Syndrome. Cleveland et al, Pediatric Radiology, 2012 Sep;42(9):1089-
98. Epub 2012 Jul 1.
Craniofacial Abnormalities in Hutchinson-Gilford Progeria Syndrome. Ullrich et al, American Journal of Neuroradiology. 2012 Sep;33(8):1512-8.
Extraskeletal Calcifications in Hutchinson-Gilford Progeria Syndrome. Gordon, CM et al. Bone. 2019 Aug;125:103-111. Epub 2019 May 8.
. Skeletal maturation and long-bone growth patterns of patients with Progeria: a retrospective study. Tsai, A et al,The Lancet. Child and Adolescent Health.
2021. ePub 2021 Feb 28.
Ophthalmology:
Ophthalmologic Features of Progeria. Mantagos et al., American Journal of Ophthalmology, 2017 Jul 27.
Audiology:
Otologic and Audiologic Manifestations of Hutchinson-Gilford Progeria Syndrome. Guardiani et al, The Laryngscope, 2011, 121(10): 2250-2255.
Microbiome at Sites of Gingival Recession in Children with Hutchinson-Gilford Progeria Syndrome. Bassir et al.
Journal of Periodontology. 2018, 89(6): 635-644.
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022PRF Grants Program
Program Goals:
Attract high level researchers to the field of Progeria, and
provide the ability for them to thrive in the field
Foster researchers of interest to PRF’s mission
Encourage high quality publications
Stimulate novel research that will lead to larger grants from
other resources such as NIH, Ellison Foundation, and others
Projects that are likely to lead to clinical treatment trials
within 5 years
Development of gene and cell based therapies to treat
Progeria
Grants program information available at
https://www.progeriaresearch.org/research-funding-opportunities/
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022PRF Medical Research Committee
Volunteer MRC Reviews Grant Applications Semi-annually
Back Row (L to R): Tom Glover PhD, Vicente Andrés Garcia PhD, Tom Mistelli PhD, Maria
Eriksson PhD, W Ted Brown MD, PhD, Frank Rothman PhD (emeritus), Bryan Toole PhD(chair)
Front Row (L to R): Monica Kleinman MD, Christine Harling-Berg PhD, Judy Campisi PhD,
Leslie Gordon MD, PhD, Marsha Moses PhD
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022PRF Granting Structure
PRF’s research focus is highly translational. Topics must fall within the following research
priorities:
Projects that are likely to lead to clinical treatment trials within 5 years. This includes the
discovery and/or testing of candidate treatment compounds in cell-based or animal models
of HGPS. Only proposals that test compounds in a progerin-producing animal or cell model
will normally be considered. Analyses in non progerin-producing models are acceptable,
but only as a comparison to progerin-producing models and with strong justification.
Development of gene-and cell-based therapies to treat Progeria
Assessment of natural history of disease that may be important to developing outcome
measures in treatment trials (preclinical or clinical)
Phase I Proposals: Awards are typically for 1-2 years in the range of $75,000/year. PRF will
conduct a thorough cost analysis for each project during evaluations of submissions.
Required Qualifications. Principal investigators must hold a faculty appointment or equivalent.
Awards will be granted only to applicants affiliated with institutions with 501(c)3 tax-exempt
status, or the equivalent for foreign institutions.
Letter of Intent (LOI). A letter of intent is required and must be approved before a full application
will be considered. Instructions to submit a Letter of Intent and grant application information, can
be found at https://www.progeriaresearch.org/grant-application/.
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Grant Funding Rates And Topics
As of March 31, 2022, The PRF funding rate is 31%
Since inception 274 grant application received and 82
funded
PRF has funded 68 principal investigators from 54
institutions in 14 countries
Lamina A, progerin, Lamin B in HGPS and aging
Genetics and nuclear function
Preclinical Drug Therapy
Molecular Abnormalities and Therapies
Vascular Pathology
Mouse Models
Stem Cell Investigations and Therapy
Clinical Trials
© 2022 The Progeria Research Foundation. All Rights Reserved. * Submissions include Letters of Intent and Full GrantsUSA PRF Grantees
GRANTEE NAME INSTITUTION GRANTEE NAME INSTITUTION
Richard Assoian University of Pennsylvania Joan Lemire Tufts University of Medicine
Jemima Barrowman Johns Hopkins University Jason Lieb University of North Carolina
Juan Carlos Belmonte Salk Institute for Biological Studies David Lui Broad Institute
The Institute for Basic Research in Developmental
Ted Brown Disabilities Monica Mallampalli The Johns Hopkins School of Medicine
Abigail Buchwalter University of California, San Francisco Susan Michaelis The Johns Hopkins School of Medicine
Kan Cao NIH; University of Maryland Thomas Misteli National Cancer Institute
Harvard Medical School; Boston Children’s
Christopher Carroll Yale University Marsha Moses Hospital
Francis Collins National Institute of Health Junko Oshima University of Washington
Lucio Comai University of Southern California Bryce Paschal University of Virginia
John P. Cooke Houston Methodist Research Institute Joseph Rabinowitz Temple Medical School
Kris Dahl Carnegie Mellon University John M. Sedivy Brown University
Jed W. Fahey Johns Hopkins School of Medicine Dale Shumaker Northwestern University
Toren Finkel NIH Michael Sinensky East Tennessee State University
Loren Fong UCLA Brian Snyder Beth Israel Hospital
Michael Gimbrone Brigham & Women's Hospital Dylan Taatjes University of Colorado
Thomas W. Glover University of Michigan Jakub Tolar University of Minnesota
Robert Goldman Northwestern University Katherine Ullman University of Utah
Leslie B. Gordon Tufts University School of Medicine; Brown U. Thomas Wight Benaroya Research Institute
John Graziotto Massachusetts General Hospital Katherine Wilson Johns Hopkins University
Brian Kennedy Buck Institute for Research on Aging Stephen Young UCLA
Jan Lammerding Cornell University Yue Zou East Tennessee State University
Dudley Lamming University of Wisconsin Madison
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022International PRF Grantees
GRANTEE NAME INSTITUTION COUNTRY
Vicente Andrés Garcia Centro Nacional de Investigaciones Cardiovasculares Spain
Samuel Benchimol York University, Toronto Canada
Martin Bergö Karolinska Institute Sweden
Claudia Cavadas University of Coimbra Portugal
Jesús Vázquez Cobos Centro Nacional de Investigaciones Cardiovasculares Spain
Mario Cordero Biomedical Research and Innovation Institute of Cadiz (INIBICA) Spain
Thomas Dechat Medical University of Vienna Austria
Karima Djabali Technical University of Munich Germany
Maria Eriksson Karolinska Institute Sweden
Gerardo Ferbeyre Université de Montreal Canada
Célia Ferreira de Oliveira Aveleira University of Coimbra Portugal
Roland Foisner Medical University of Vienna Austria
Chiara Lanzuolo Instituto Nazionale Genetica Molecolare Italy
Giovanna Lattanzi University of Bologna Italy
Elsa Logarinho University of Porto Portugal
Evgeny Makarov Brunel University England
Silvia Ortega-Gutiérrez Universidad Complutense de Madrid Spain
Bum-Joon Park Pusan National University Korea
Isabella Saggio Sapienza University of Rome Italy
Charlotte Sorenson Centro Nacional de Investigaciones Cardiovasculares Spain
William Stanford University of Toronto Canada
Colin Stewart Institute of Medical Biology Singapore
Ricardo Villa-Bellosta Instituto de Investigación Sanitaria - Fundación Jiménez Díaz Spain
Anthony Weiss University of Sydney Australia
Zhongjun Zhou University of Hong Kong China
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022PRF Scientific Meetings
Meeting Goals:
To promote
collaboration
between basic and
clinical scientists
toward progress in
Progeria, 13
cardiovascular, and
aging research PRF
has held 13
international
scientific meetings.
2020 PRF Workshop
Webinar
© 2020 The Progeria Research Foundation. All Rights Reserved.International Workshops Promoting Global Interest In Progeria,
Cardiovascular Disease And Aging
These are large multi-day workshops open to all scientists. Clinical and basic
researchers spend intense days sharing data and planning new
collaborations for progress towards treatments and cure.
Various NIH Institutes have funded all international workshops through R13
and other granting mechanisms
Other organizations have also generously sponsored workshops
© 2022 The Progeria Research Foundation. All Rights Reserved.Growth of Global Interest In PRF Workshops
400 Number of Posters 377
350 Registrant Countries
300
Registrant Number
250
Number
200 180 173
156
140
150
100
90
100
56 56 52 50
46 46
50 30 36
20 18 14 14
3 5 10 10 10
0
2001 2003 2005 2007 2010 2013 2016 2018 2020
PRF Workshop Year 2020 was a webinar.
Posters N/A
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022Subspecialty Scientific Meetings
Small, focused meetings designed to promote and support work in areas of high
interest for Progeria
First Genetics Consortium Meeting – “Searching
for the Progeria Gene”, August 23, 2002, Brown
University, Providence, RI
Second Genetics Consortium Meeting – “Post-
gene Discovery”, July 30, 2003, Bethesda, MD
Bone Marrow Transplant Meeting – “Forging
Ahead by Exploring Potential Treatments”, April
25-26, 2004, National Institutes of Health,
Bethesda, MD
New Frontiers in Progeria Research (2012),
Boston, MA
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022PRF–cited Scientific Publications
As of July 1, 2022:
Scientific articles have been published citing The Progeria Research Foundation
174
Grants Funding Program
108 Scientific articles have been published citing PRF Cell & Tissue Bank resources:
99 Publication list at www.progeriaresearch.org/prf-cell-and-tissue-bank-
publications/
30 Scientific articles have been published citing The PRF Medical & Research Database:
Publication list at www.progeriaresearch.org/medical-database/
24 Scientific articles have been published from clinical trial data
See slide #57 and #58
4 Scientific articles have been published concerning PRF Scientific Workshops
23
© 2022 The Progeria Research Foundation. All Rights Reserved.Progeria Clinical Care Handbook
The Progeria Handbook 2nd Edition. A
Guide for Families & Health Care
Providers of Children with Progeria. The
Progeria Research Foundation. Leslie B. Gordon
MD, PhD; Medical Director (editor) 2019.
Provided in Chinese, English,
Japanese and Spanish
Expert contributors from Boston
Children’s Hospital
Number of Progeria Care Handbooks distributed to
families of those with Progeria and their care givers: 857
© 2022 The Progeria Research Foundation. All Rights Reserved. July 1, 2022The Progeria Research Foundation
Finding…
Diagnosing…
Studying…
Treating…
CURING
Together We WILL Find The Cure!
www.progeriaresearch.org
© 2022 The Progeria Research Foundation. All Rights Reserved.You can also read
