PI: Gratacós, E
Funding Agency: E. CIBER-ER (Centros de Investigación Biomédica en Red, Ministerio de Educación y Ciencia)
Duration: 2007-2010
Rare disease occurs in than 5 per 10,000 individuals in the European Union. As we might guess, there are some diseases that only affect small numbers of individuals in the world. And there are some diseases that are truly one-of-a-kind, usually happening because of a genetic defect. Some diseases are widespread in certain parts of the world but rare in others. It is estimated that there are between 5,000 and 8,000 known rare diseases in the world
The basic lines of this project are:
Neurologic fetal and perinatal origin damage
Multidisciplinar characterization, of neuronal growth by nomograms
Placenta origin diseases and fetal programation for cardiac post natal disfunction
Different studies in preaclampsia physiopathology diagnosis and fetal growth problems
High complexity fetal surgery: Monochorionic twin pregnancy problems and congenital diaphragmatic hernia
The main objectives have been the fetal surgery and the monochorial physiopathology and neurological damage in monochorionic twining.
Genetic and chromosomic prenatal diagnosis
Ecography and biochemical markers development for prenatal chromosome anomalies diagnosis.
Diagnosis of inborn errors of metabolism and research on cell mechanisms of disease in lysosomal diseases
The objectives of the genetic biochemistry laboratory have been the early diagnosis, detection of heterozygotes and prenatal diagnosis of congenital diseases of metabolism, particularly the biochemical and molecular investigation in lysosomal storage diseases and glycogenosis
Rare diseases in Fetal Medicine and Therapy
