Giuseppe Merla

Dr. Giuseppe Merla is an Italian scientist and medical geneticist at IRCCS Casa Sollievo della Sofferenza inSan Giovanni Rotondo, Italy.He is the Director of Fondazione Telethon-Genomic and Genetics Disorders Biobank (GGNB), a member of EuroBioBank (European Network of DNA, Cell and Tissue banks) at the Casa Sollievo della Sofferenza Hospital.Dr. Giuseppe Merla and his team led the discovery of a new rare genetic syndrome: IDDCA (intellectual development disorder with cardiac arrhythmia) and the gene responsible for IDDCA. He has also been declared as the Ambassador of Kabuki syndrome and received the 2019 Ambassador Day award at the Royal Villa of Monza.

Dr. Giuseppe Merla received his degree in biological sciences completing his thesis-research work on Drosophila melanogaster in the laboratory of Prof. Gioacchino Palumbo at the University of Bari in 1996. Then he stayed for a year at the oncology laboratory of IRCCS the Casa Sollievo della Sofferenza Hospital, and moved to TIGEM (Telethon Institute of Genetics and Medicine), to work with Prof. Andrea Ballabio, first in Milan and then in Naples, where he stayed until 2001. After completing five years of research at the TIGEM (Telethon Institute of Genetics and Medicine), Dr. Giuseppe Merla went to Switzerland to carry out Post-doctoral work with Dr. Alexandre Reymond and Prof. Stylianos Antonarakis at the division of medical genetics of University of Geneva Medical School. In 2004, he returned from Switzerland to Italy to start his own research lab at the Medical Genetics Unit of Casa Sollievo della Sofferenza. In 2009, he obtained specialisation in Medical Genetics (la specializzazione in Genetica medica) at Sapienza University of Rome with Prof. Bruno Dallapiccola.

Giuseppe Merla started his own lab in 2004 at the Medical Genetics Unit of Casa Sollievo della Sofferenza. Since its establishment, his lab has maintained focus on the biomedical research particularly in context of the human rare genetic diseases and cancer, ranging from clinical to basic research and therapy.

He, in 2009, became the Director of Genomic and Genetics Disorders Biobank (GGDB) at the IRCCS Casa Sollievo della Sofferenza in 2009. At GGDB, he is responsible for managing thousands of biospecimens (DNA, RNA and tissue cell lines) from a number of genetic diseases.

In 2018, Dr. Giuseppe Merla and his team led the discovery of the gene responsible for the novel rare genetic syndrome IDDCA (intellectual development disorder with cardiac arrhythmia) along with the collaborators from America, the Netherlands, Brazil and Switzerland. Dr. Merla's group was also the first to identify this new rare genetic syndrome IDDCA. Dr. Merla has shown a novel compound heterozygous of GNB5 in a patient with IDDCA and identified GNB5 variants as causative for intellectual development disorder with cardiac arrhythmia.

His current research activities fall under the following categories- Cancer genetics, Williams syndrome,Kabuki syndrome and Chromatin-affected diseases. In cancer genetics he is primarily interested in the aetiology of glioblastoma.