New frontiers of research on genetic diseases
EMBL Monterotondo, 2 - 4 July 2008
The July LearningLAB in Monterotondo, organized by ELLS education officer Rossana De Lorenzi in collaboration with the University "Federico II" in Naples, provided participants with an overview of the most recent research on genetic diseases. The teachers from all over Italy learned how scientists approach the study of genetic diseases, and how animal models are used to find out the causes leading to the development and progression of a disease.
On the first day, Vincenzo De Simone, Professor at the University "Federico II" in Naples, presented a seminar on the discoveries in the post-genomic era that have enabled scientists to access the genome and influence gene expression in order to link genes with specific disorders. These new technologies have lead to so-called "molecular diagnostics", which is the ability to categorise disease by studying all the genes in a cell or organism - genomics, together with all the proteins - proteomics. Molecular diagnostics determines how these genes and proteins are interacting in a cell. It focuses upon patterns - gene and protein activity patterns - in different types of, say, cancerous or precancerous cells. Finally, Professor De Simone looked at gene therapy which currently represents the main hope for researchers in preventing or treating genetic diseases.
The seminar was followed by a practical activity, conceived and instructed by Professor De Simone, where the teachers analysed their own genetic material (extracted from cheek cells) and looked for common polymorphisms on the hemochromatosis (HFE) gene, which are not associated with a pathological condition. The experimental procedure consisted in extracting and purifying the DNA, amplifying a specific region of the gene by PCR and performing an enzymatic digestion in order to detect the mutations.
A seminar given by Arianna Nenci, post-doctoral fellow at the EMBL Monterotondo, introduced the teachers to different approaches to interfere with gene expression and produce mutant organisms that carry the same genetic defects as humans. These organisms can be used as models to study specific human genetic diseases. The teachers became familiar with the technologies of transgenics and targeted mutagenesis, and heard how a mouse model generated with these techniques presents the main features of the human genetic disease called ectodermal dysplasia (ED).
The first day ended with the famous Virtual Microarray, an educational game developed at EMBL, which describes the basic principles of microarrays or so-called 'DNA chips', and their main applications. Microarrays have revolutionised molecular biology.
Antonio Musarò, Professor at the "La Sapienza" University in Rome, opened the second day with a brilliant demonstration of how cell and gene therapy have been used to treat muscular dystrophy, a genetic disease affecting muscle cells. Stem cells have been used to replace the muscle cells in patients, and it has been shown that, in with the presence of growth factors, stem cells are more effectively driven to the damaged tissue and slow down the progression of the disease significantly. The practical activity performed by the teachers on the second day was the Nature's Dice, an educational module developed by the National Centre for Biotechnologies Education (NCBE) at the University of Reading, which consists in the analysis of DNA samples from members of a putative family affected by a genetic disorder. After assigning the proper genotype to each member of the family, the teachers had to guess the mode of inheritance of the disease and discuss the ethical issues that can derive by parental screening.
The end of the afternoon was dedicated to the presentation of Telethon, a non-profit organisation that supports Italian research on genetic diseases. Chiara Cecchi and Carlo Fornario described the mechanisms of funding and project evaluation at Telethon and the initiatives that they have recently started in order to promote the knowledge of genetic disease among the young generations.
The last day was dedicated to the analysis of the results from the practical activities and later to a demonstration performed in the EMBL Transgenic Facility by José Gonzalez and Laura Tatangelo. Teachers could observe how DNA is introduced into fertilised eggs in order to generate transgenic organisms, and how genetically modified stem cells can be injected into blastocysts in order to generate mutant organisms.
The experience was so fascinating that it took much longer then expected! There was no time left for the educational game "Play DECIDE", which was briefly described to the teachers so that they could play it with their students at school.
Before the teachers left there was just enough time for the "lottery". The lucky winners (Giovanna Romano and Annalisa Tomasino) won a Nature's Dice and DNA pendant kit, both from the National Centre for Biotechnologies Education (NCBE).