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Activities of the March of Dimes
The Human Variome ProjectGlobal Globin 2020
Challenge
Joe Leigh Simpson, MD, FACOG, FACMG, FRCOG
SVP, Research and Global [email protected]
May 31, 2016Paris, France
Discovery – Development / Training - Delivery / Implementation
USA Global
Fellowships
March of Dimes Conferencesand organization support
Global Reports: UN/ World Health Organization (WHO)
March of DimesGlobal Health Network: Lebanon, Malawi, Philippines
Investigator Initiated Grants
PrematurityResearch Centers
Memorandum of Agreement with International Federation of Gynecology and Obstetrics: Working Group on Preterm Birth
Research and Global Programs
What does MOD fund? Discovery Directed Research
• 5 Prematurity Research Centers (5 year) Investigator Initiated Research
• Basil O’Connor Starter Awards• Established Investigator Grants
o Gene Discovery and Translationo Cell Lineage and Differentiation
Fellowships• Pediatric Scientist Development Program • Reproductive Scientist Developmental Program
Conferences and organizational support
Salk Institute ($1M / Year) Prize in Developmental Biology ($250K / Year)
Research Classification for2013-2014
Basic D
iscove
ry Resea
rch/B
iology
Etiology/M
echanisms o
f disea
se
Detectio
n/Preventio
n/Treatmen
t/Outcomes
60
20
0
40
Num
ber o
f Gra
nts
B Detec
tion/P
reve
ntion
/
Treat
ment/O
utco
me
Num
ber
of
Gra
nts
Basic
Discov
ery
Resea
rch/Biol
ogy
Etiol
ogy/M
echa
nisms o
f
Diseas
e
Developmental biology and reproductive health
Pregnancy and labor Birth defects / medical genetics Infectious diseases that affect
pregnancy outcomes Social sciences that affect pregnancy
outcomes
Priority Discovery Areas
Global Distribution of the Hemoglobin Disorders
March of Dimes Global Report on Birth Defects – The Hidden Toll of Dying and Disabled Children; The March of Dimes Foundation; 2006
RUSP
• 32 Disorders 30 Blood spot-based 2 Functional tests
• Recommendations for uniformity
• Brings a discipline to addition of disorders to NBS
• RUSP: S/S, S/beta thal and S/C
States NBS for 29 Core Conditions of 2006
2012 MMWR 61;390-3
March of Dimes Global Efforts to Reduce the Toll of Hemoglobin Disorders
Biennial International Conferences on the Prevention of Birth Defects and Disabilities in the Developing World (7th conference held in September 2015 in Dar es Salaam)
Partnership with WHO/SEARO to develop regional birth defects surveillance network
Partnership with WHO/PAHO to strengthen and expand newborn screening in the Latin America and Caribbean Region
Support of the annual Birth Defects Day on 3 March
Discovery Science: What Initiates Term/Preterm Labor?
• Inflammatory / Infectious etiologies
• Anatomic changes in uterus, cervix or placenta
• Genetic factors directly related or independent of the above
• Dysfunctional energy metabolism (mother and fetus) – mitochondria, diet
• Fetal or maternal signals that initiate labor
March of Dimes Prematurity Research Centers
1 2
3 4
5 Multiple Domestic and Global
Investigators (~75)
Prematurity Research Centers
• Louis Muglia (Ohio)
• David Stenvenson (Stanford)
• Carole Ober (Chicago-Northwestern-Duke)
• George Macones (Washington University in St. Louis)
• Deborah Driscoll (University of Pennsylvania)
Stanford University
Chronodisruption
Microbiome and
Gestational Length
Placental Transcriptom
e
U Pittsburgh
Bioenergetics & Mitochondria
Cervical Remodeling
Columbia
Cervical Photoacoustic Endoscopy
Texas
A&M
Sociobiology
Vanderbilt
Evolutionary Synthesis
Washington University
Ohio Collaborati
ve
University of
Pennsylvania
Mt. Sinai
UChicago-Duke-
Northwestern
Princeton
Models of Pregnancy
Gene Regulation in
Pregnancy and Preterm Birth
U South Florida
Progesterone
3D Electrophysiology of the Uterus
Gene Identification and Function
MOD PRC Data Co-
ordinationUCSF
UT South-western
Placental Dysfunction
U IowaBiological
Responses to Maternal
Stress
Collaboration Among Centers
Thank Youjsimpson@marchofdimes
.org
