Professor Alessandra Renieri, University of Siena, Italy
My research focuses on the clinical manifestations and molecular pathways underlying human genetic diseases. As director of the Medical Genetics Unit at the University of Siena, my clinical activity consists of genetic counselling, which imply identifying a case on the basis of clinical genetics, recommending a possible molecular diagnosis, coordinating the implementation of the research, assessing the recurrence risk for relatives and, whenever applicable, making pre-symptomatic diagnosis.
I coordinate molecular research mainly dealing with the following topics: mental retardation, Rett syndrome and Alport syndrome. In 2002, this research activity lead to the identification of a new X-linked non-specific gene responsible for mental retardation, FACL4 (published in Nature Genetics). Current projects focus on disease gene identification by traditional molecular techniques combined with innovative microarray-based genomics and bio-informatics approaches.
Abstract Correcting gender imbalance in biomedical
Europe has a long tradition of discovery and invention in its universities, research institutions and companies. However, person’s gender plays an important role in the likelihood of their being able to enter, remain in and succeed within the scientific community. In most European countries, there are now proportionately more female than male graduates, but women remain under-represented in science and in decision-making bodies concerned with scientific issues.
Since 1901 there have been over 300 recipients of the Nobel Prize in sciences. Only eleven of them (3%) have been women. In 1903, Marie Curie was the first woman to win the Nobel Prize in physics for her research into radioactivity. Her work led to the discovery of radium, the first real hope in cancer therapy. Barbara McClintock revolutionized genetics with the discovery of mobile genetic elements, or 'jumping genes', but scientist ignored her studies for decades and she won the Nobel Prize only at 81 years. An Italian neurologist, Rita Levi Montalcini, won the Nobel Prize in 1986 for her discovery of NGF, a bodily substance that stimulates and influences the growth of nerve cells.
Other female scientists played crucial roles in Nobel Prize research projects, but they were never been awarded. An emblematic example is the story of Rosalind Franklin. She was responsible for much of the research work that led to the understanding of the structure of DNA, but Watson and Crick used her X-ray photographs to build the model of double helix and for this discovery they won the Nobel Prize in 1962. All these women had to face gender discrimination both as students and as researchers. Their successes were due to the fact that they were passionately determined with science.
These stories clearly indicate that women contribution is essential to science development. The issue of gender discrimination has to be therefore discussed with high priority in the debate on future science policy and appropriate actions have to be taken to cancel the imbalance between male and female researchers.
