28 February is World Rare Disease Day

We celebrate ICGEB Scientists’ research into Rare Diseases – raising awareness and generating change for the 300 million people worldwide living with a rare disease.

Taken together, “rare diseases” include over 7000 different conditions. Of the 300 million people worldwide estimated to be living with a rare disease, 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 and works on models of human diseases and is an expert in gene therapy, gene editing, adeno-associated virus (AAV) and liver metabolic disorders. His research on Fabry disease has been funded by Telethon and he is part of the European consortium performing clinical trials for Crigler-Najjar syndrom patients.

Dr. Federica Benvenuti is Group Leader of the Cellular Immunology lab that conducts research into cancer induced immune suppression. Her lab’s studies into Wiskott-Aldrich syndrome, a rare disease that affects one in every million boys born and it is a severe immune deficiency complicated by autoimmunity, is 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, as well as genetic diseases caused by defective splicing. The results of his team’s research has highlighted the importance of studying all variations identified in disease-associated ALS genes. His research has recently been awarded a grant by AriSLA.

Dr. Marco Baralle, Group Leader, RNA Biology, conducts research into genetic diseases caused by defective splicing. His work includes studying ALS disease models and therapeutic drug screening. He is an AriSLA award recipient.

Dr. Frank Brombacher who established the Cytokines and Disease Group at ICGEB Cape Town, studies the immunological mechanisms of host protection in infectious and non-infectious diseases – including rare diseases.

These are some of our scientists and some of our science for #RareDiseaseDay.