Chinese Birth Defect Bank

1
Chinese Birth Defect Bank
Grant No. 03-783 Grant Duration July 2003 to
June 2007 CEO Zhang Zhaoda, M.D. COO Mao
Meng, M.D.
2
September 30, 2002
February 26, 2003
3
Key Interdisciplinary Program
School of Medicine
School of Public Administration
West China 2nd Univ. Hospital
BDP project
School of Public Health

• College of Mathematics

NCBDM
Pediatrics
Software Engineering College
Law School
Ob-Gyn
BDP project integrates with departments of the
hospital and closely cooperates with other
schools/colleges of Sichuan University. It
receives great concerns from the university
leadership
4
Objectives

• Establish a nationwide BDP data collection system
• Set up a BDP DNA database and management
  protocols
• Set up a computer management system for the BDP
  database
• Train all the health workers in the system for
  data processing and blood sampling
• Lay a foundation for the study of gene diversity
  of worldwide Chinese and comparative study of
  factors contributing to BD

5
What have been done (Jun 2003-Apr. 04)

• ? Materials and procedures for the project
• ? Training classes for health workers and
  participants and for BD data collection
• ? Pedigree hunting, collection and management of
  data and blood
• ? A website of BDM/BDP

6
Preparations for program management and
implementation
7
Preparations for program management and
implementation
Guidebook/procedures for the project
? Guidebook for implementation of birth defect
monitoring and collection of pedigrees ? Layout
of the procedures for program implementation
8
Preparations for program management and
implementation

• ? Regulations for research and cooperation
• ? Regulations for collection, transfer, DNA
  extraction and preserve of biological samples
• ? Implementation scheme for establishment of
  BDP bank
• ? Guidebook for implementation of BD monitoring
  in Chengdu

9
Train health workers in the network
10
Network for birth defect monitoring and birth
defect pedigrees
11
Specific trainings

• ? Chengdu training program (Jun 26 July 7,2003)
• One workshop in Chengdu city proper for hospitals
  above county level
• 212 ob-gyn and pediatric physicians
• 14 workshops at districts and counties for
  clinics of township level
• 768 ob-gyn and pediatric physicians and health
  workers from 240 clinics
• ? Yunnan training class (Sep. 25 29, 2003)
• 190 participants from the member units all
  over China

12
Specific trainings

• We distributed 1200 guide books and 1000 sets of
  birth defect photos.

Yunnan, September, 2003
Chengdu, July, 2003
13
County level trainings
14
Activities to promote BDP

• ? National Maternal and Child Health Annual
  Meeting, Beijing, Nov. 19-23, 2003
• ? The First Southwest Symposium of Pediatrics,
  Chengdu, Sep. 25-26, 2003
• ? The Second National Family Planning Exposition
• ? Liaoning Provincial Workshop for Prenatal
  Diagnosis, Oct. 20-22, 2003
• ? The 107th Annual Meeting of Japan Pediatric
  Society, Apr. 8 11, 2004

15
Collection and Management of Data and Blood
Samples
16
Hunting for trails of birth defect
pedigrees

• ? Over 1,000 reports of possible BDP coming from
  national/provincial network of maternal and child
  health surveillance
• ? 100 reports from relatives of BDP
• ? 50 reports from hospitals and clinics

17
Data collection and blood sampling

• ? On-site investigations over 100 Ob-Gyn
  physicians, pediatricians, genetic researchers,
  and epidemiological researchers from this
  hospital participated.
• ? Local health workers about 300 health workers
  from health units of provinces, cities and
  counties involved.
• ? Total distance traveled about 30,000 km
  (including 34 cities/counties and 280 villages)

18
Data collection and blood sampling

• On-site BDP investigations 181
• Blood samples collected 718
• (including 48 from minority ethnic groups )

19
Data collection and blood sampling
Major birth defect pedigrees collected
ankylodactyly split hand achondroplasty pseudoacho
ndroplasia mesomelic dwarfism dwarfism limb
shortening multiple chondroma Ichthyosis peroneal
muscular atrophy progressive muscular
dystrophy mucopolysaccharidosis hypospadias congen
ital nephropathy ploycystic renal
disease congenital cardiopathy 47,XXY

• microcephaly
• congenital deaf-mutism
• mental retardation
• schizophrenia
• Down's syndrome
• glaucoma
• congenital cataract
• congenital anophthalmia cyclopica
• deformity of external ear
• talantropia and pigmentary degeneration of
  retina
• cheiloschisis
• cheilopalatognathus
• clinodactyly
• polydactyly

20
A pedigree of pseudoachondroplasia
21
A pedigree of Congenital anophthalmia cyclopica
22
A pedigree of Polydactyly
23
DNA analysis of a pedigree of synpolydactyly

• ? A preliminary molecular level research on a
  pedigree of limb deformity. Results show an
  insertion mutation on the exon of the HOXD13
  gene.

Electrophoresis showing a mutation
24
Data and blood management

• ? Procedures are standardized for data and
  blood collection, processing, and storage.
• Charts and workbooks
• ? DNA samples are extracted from each blood
  sample, and stored in a deep freeze refrigerator
  with duplications in a different refrigerator

25
Information Management System for Birth Defect
Pedigrees (IMSBDP)
26
Construction of IMSBDP

• ? About 30 experts from Software Engineering
  College, College of Mathematics, School of Public
  Administration, School of Public Health, School
  of Medicine are involved in the development of
  the Information Management System for
  BDP(IMSBDP).

27

• ? All Data are managed by an computerized
  management system.
• ? A comprehensive BDM/BDP management system is
  under construction.

28
Construction of IMSBDP
BDM/BDP Managt System (for internal users)
Web Application System (for outside researchers
ordinary readers)
Selectively releasing
Ordinary Readers
Data search, BDP information reporting,
Cooperative research information
29
Problems encountered

• Most significant BD pedigrees are in remote
• areas, without modern communication
• facilities and transportation.
• Some natives of the remote areas have
• strong accent. Communication is
• impossible without a local dialect
  interpreters.
• It is difficult to win the cooperation of BD
• families. They are reluctant to have their
  blood sampled.

30
We are going to

• In the second year, we will increase data and
  blood collection quantity and quality through
  extended trainings and promotions.

31
Thank you very much!
If love is flowers, you are the seeds.
We together can make a happier world for our kids.