An overview of the work of the March of Dimes in haemoglobinopathies

1. Activities of the March of Dimes
The Human Variome Project
Global Globin 2020 Challenge
Joe Leigh Simpson, MD, FACOG, FACMG, FRCOG
SVP, Research and Global Programs
jsimpson@marchofdimes.org
May 31, 2016
Paris, France

2. Discovery – Development / Training - Delivery / Implementation
USA Global
 Fellowships
 March of Dimes Conferences
and organization support
 Global Reports: UN/ World
Health Organization (WHO)
 March of Dimes
Global Health Network:
Lebanon, Malawi,
Philippines
 Investigator Initiated Grants
 Prematurity
Research Centers
 Memorandum of Agreement with
International Federation of
Gynecology and Obstetrics:
Working Group on Preterm Birth
Research and Global Programs

3. 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 Translation
o 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)

4. Research Classification for2013-2014
60
20
0
40
NumberofGrantsNumberofGrants

5.  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

6. 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

7. 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

8. 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

9. 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

10. March of Dimes
Prematurity Research Centers
1 2
3
4
5 Multiple Domestic and
Global Investigators
(~75)

11. 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)

12. Stanford
University
Chronodisruption
Microbiome
and
Gestational
Length
Placental
Transcriptome
U Pittsburgh
Bioenergetics &
Mitochondria
Cervical
Remodeling
Columbia
Cervical
Photoacoustic
Endoscopy
Texas
A&M
Sociobiology
Vanderbilt
Evolutionary
Synthesis
Washington
University
Ohio
Collaborative
University of
Pennsylvania
Mt. Sinai
UChicago-Duke-
Northwestern
Princeto
n
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-ordination
UCSF
UT South-
western
Placental
Dysfunction
U Iowa
Biological
Responses to
Maternal
Stress
Collaboration Among Centers

13. Thank You
jsimpson@marchofdimes.org