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July 26, 2006

Birth Defects and Omics (Omics Series, 13)

There is perhaps an intuitive or obvious connection between dentistry and craniofacial anomalies and birth defects, as well as an intuitive connection between birth defects and genetics / genomics. Birth defects are, in some ways, one of the most significant links between genomics and both public health and dentistry. Much of the overlapping work focuses on cleft lip and palate, but definitely not all. In today's entry we will find local, national and international resources as well as articles that explore the connections between these three concepts.


Michigan Genetics Connection: Birth Defects & Folic Acid: http://www.migeneticsconnection.org/birthdefects.shtml

Michigan Birth Defects Registry: http://www.michigan.gov/mdch/0,1607,7-132-2944_4670---,00.html

Pobojewski, Sally. "U-M scientists find genetic cause of multiple birth defects affecting kidneys, eyes and other organs." May 8, 2006. http://www.med.umich.edu/opm/newspage/2006/nphp.htm


CDC Birth Defects and Developmental Disabilities: http://www.cdc.gov/ncbddd/

CDC Genomics and Disease Prevention: http://www.cdc.gov/genomics/

EUROCRAN: European Collaboration on Cranial Facial Anomalies:
Directory of European Resources: http://www.eurocran.org/content.asp?contentID=6&sid=18504
Genetic Databases: http://www.eurocran.org/content.asp?contentID=10&sid=184936
Clinical Outcomes Library or Good Practice Archive (members only)
Speech Project: http://www.eurocran.org/content.asp?contentID=1213&sid=18463

Human Genome Epidemiology Network (HuGENet): http://www.cdc.gov/genomics/hugenet/

International Birth Defects Information Systems (IBIS): http://www.ibis-birthdefects.org/

International Clearinghouse for Birth Defects Monitoring Systems (ICBDMS): International Centre for Birth Defects (ICBD): http://www.icbd.org/icbd.htm

Teratology Society: http://teratology.org/

WHO: International Collaborative Research on Craniofacial Anomalies (IRCRA):

WHO: International Database on Craniofacial Anomalies (IDCFA):


Brunner HG, van Driel MA.
From syndrome families to functional genomics.
Nat Rev Genet. 2004 Jul;5(7):545-51.

genome.gov: Genomics in Action: Lawrence C. Brody: http://www.genome.gov/13014224

Omenn GS.
Genomics and Public Health
Issues in Science and Technology, Spring 2005
"Potential benefits depend on linking genetic and environmental data in designing research, developing applications, and forging public policies."

Culiat CT (Oak Ridge National Laboratory)
Modeling Human Craniofacial Birth Defects with ORNL Mouse Mutations: http://lsd.ornl.gov/highlights/culiat.pdf

Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM.
Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.
J Med Genet. 2005 Feb;42(2):121-8.

Pobojewski, Sally. "U-M scientists find genetic cause of multiple birth defects affecting kidneys, eyes and other organs." May 8, 2006. http://www.med.umich.edu/opm/newspage/2006/nphp.htm

Polifka JE, Friedman JM.
Medical genetics: 1. Clinical teratology in the age of genomics.
CMAJ August 6, 2002; 167 (3)

Spradling A, Ganetsky B, Hieter P, Johnston M, Olson M, Orr-Weaver T, Rossant J, Sanchez A, Waterston R.
New roles for model genetic organisms in understanding and treating human disease: report from the 2006 Genetics Society of America meeting.
Genetics. 2006 Apr;172(4):2025-32.

Posted by pfa at July 26, 2006 02:05 PM


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