Since 1991, the year after BDF’s launch, the charity has invested in vital and pioneering medical research and other research based commitments. In order of year, BDF’s research portfolio shows that action is at the very roots of the work of BDF – putting funds into action to help children and families today and tomorrow. Our research portfolio has a broad mix of research into many different birth defects and yet although there has not been a focus or concentration on one area we have supported many successful projects. In particular BDF have supported many researchers in the early stages of their careers when they had no track record. With the help of our advisors we have been able to recognise their potential and have set them on a future path researching into the cause, diagnosis and treatment of birth defects. The foundations we have been able to lay down in our first ten years will benefit all our children. 1993 Cleft palate genes Miscarriage Gene Therapy 1994 Noonan Syndrome Ultrasound scanner Cerebral palsy Endocervical sampling Xist expression in early embryo Inhibin in Downs screening Fibroblast growth factor receptor 2 Genes in Downs syndrome Genes in Cleft palate SOX developmental genes in intersex Elastin mutations SON regulatory gene in Downs syndrome 1995 Lymphoedema distichiasis Gastroschisis CDX homeobox gene T box gene in spina bifida Abnormal sex development Williams syndrome Di George Syndrome 1996 Protein Kinase C Craniosynostosis Vitroretinal eye disorders WWW site for dysmorphology 1997 Autosomal recessive microcephaly Inherited Deafness Genes for cleft palate Di George syndrome Beckwith Weidemann Syndrome CMV infection in pregnancy Neural tube defects Early embryonic imprinting Wolf Hirschorn syndrome 1998 Lymphoedema distichiasis Protein Kinase C Hypospadias Fine mapping of Williams locus Treacher Collins syndrome 3D fetal ultrasound Metabolic brain malformations Prader Willi syndrome C KIT in urticaria pigmentosa Rett syndrome 1999 Nail Patella syndrome X linked cleft palate Rett syndrome Palate development gene 3M syndrome Albrights Hereditary Osteodystrophy ACE developmental regulation Neonatal thrombocytopenia Genetic susceptibility to infection Genes in talipes 2000 Gene expression in Downs syndrome Sliver syndrome Pelizaeus Merzbacher syndrome Anticonvulsants in pregnancy Robinow syndrome Plunc Gene in tracheal development Vascular malformations X linked cleft palate extension Neurofibromatosis contiguous genes Bardet Biedl syndrome Genetic factors in neural tube defects Chromosomes in eye malformations Cytogenetic database for CVS samples Congenital heart defects 2001 Cleft palate genes Deafness Noonan Fellowship Mollecular Scientist Noonan Study Neurofibromatosis CVS Database Genetic Predisposition in NT Chromosomes in Eye Malformations Gene Expression in Downs Bardet Biedl Syndrome 2002 X Cleft Palate Noonan Fellowship Mollecular Scientist Noonan Study Diagnostic Unit Stem Cells in Hirschsprungs XY Sex Reversal Hypoplastic Lung Fetal Outcome Cystic Lung Role of Clefting Genes Costello Syndrome 2003 BDF NS Unit Recessive Eye Disease Novel Loci Genotype/phenotype In Sotos and Weaver Prevention Of Neural Tube Defects Molecular Genetics of Sensitive Seizures Molecular Biology Underlying Otodental Syndrome 2004 Cohen Syndrome Developmental gene expression CHARGE Syndrome Jeune Syndrome Brachydactyly Fuhrman Syndrome Development of opthalmic screening Environmental causes database Rokitansky Syndrome Phenotype PTEN study Imprinting disorders database Register of cryptorchidism and hypospadias Apply for Research Grant What can I do as an Individual? What can I do as an Organization?
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