ICGEB Scientists research Rare Diseases, raising awareness and generating change for the 300 million people living with rare diseases worldwide.
Taken together, “rare diseases” include over 7,000 different conditions. Of the 300 million people worldwide estimated to be living with rare diseases, many are in low-income countries.
Basic research is fundamental to generate change for those living with rare diseases. This is our research; these are our scientists:
Dr. Andrés Muro heads the Mouse Molecular Genetics lab, works on models of human diseases, and is an expert in gene therapy, gene editing, adeno-associated virus (AAV), and liver metabolic disorders. The Group has received funding from the Telethon Foundation for its research into Fabry disease and is part of the European consortium performing clinical trials for Crigler-Najjar syndrome patients.
Dr. Federica Benvenuti is Group Leader of the Cellular Immunology lab, where research into cancer-induced immune suppression is conducted. Her lab’s studies into Wiskott-Aldrich syndrome, a rare disease that affects one in every million boys born and is a severe immune deficiency complicated by autoimmunity, has also been funded by the Telethon Foundation.
Dr. Emanuele Buratti heads the Molecular Pathology lab, working on RNA-protein interactions, defective RNA processing, and neurodegeneration. The Group also works on genetic diseases caused by defective splicing. The results of this team’s research highlight the importance of studying variations identified in disease-associated ALS genes, with the Group being awarded a grant by AriSLA.
Dr. Marco Baralle, another AriSLA award recipient, is Group Leader RNA Biology, which studies genetic diseases caused by defective splicing. His work includes studying ALS disease models and therapeutic drug screening.
These are some of our scientists and some of our science for #RareDiseaseDay.
