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Dr. Marco Castori is the Head of Division of Medical Genetics of the Foundation IRCCS Casa Sollievo della Sofferenza (San Giovanni Rotondo, Italy). Clinical services of the Division of Medical Genetics includes both consultations and laboratory/diagnostic activities, for a total of more than 1000 clinical/medical genetics consultations/year and more that 4500 diagnostic molecular tests/year. Most analyses consist of next generation sequencing investigations by multi-gene panels and exome sequencing, and genomic arrays (SNParray) on postnatal samples. He is also the Clinical Coordination of the Rare Disease Program of the same Institution. The Program involves more than 25 specialists from more than 20 different disciplines for both pediatric and adults patients with (a suspect of) rare diseases. The Program is fully integrated with the Local (Puglia Region) and National programs for the integration and implementation of the Italian Reference Centers for Rare Diseases. The aim of the Program is to help patients in reaching the right specialist for appropriate diagnosis and follow-up, and facilitate team activities within the Foundation around issues concerning rare diseases. Dr. Castori major research topic is joint hypermobility and the Ehlers-Danlos syndromes. Additional interests include multiple malformations/dysmorphic syndromes, fetal pathology, bone dysplasias and skin mosaicism.

Dr. Giuseppe Merla obtained his Master’s degree in Biological Sciences in 1996, Board Certification in Medical Genetics in 2009 and Ph.D. in Molecular Genetics in 2014. In 2015 he has joined the Faculty of Medicine, University of Foggia, Italy, as Adjunct Professor of Molecular Biology and in 2018 the Faculty of Biology, University of Bari, Italy as Adjunct Professor of Medical Genetics.

In 2021, I joined the Faculty of Medicine, University of Naples Federico II as Full Professor of Molecular Biology and I became the Head of the Laboratory of Functional and Regulatory Genomics at IRCCS CSS in San Giovanni Rotondo.

Before settling his independent group, he has been working for 7 years at the TIGEM Institute in Milan and Naples and at the Division of Medical Genetics, University of Geneva Medical School, Switzerland.

His research focuses on dissecting the molecular basis of a number of human genetic rare diseases and cancer genetics, ranging from clinical to basic research and therapy. His studies challenge with Williams-Beuren syndrome and Chromatinopathies (e.g. Kabuki syndrome) and the novel rare genetic diseases IDDCA. In the field of Cancer Genetics he is involved mainly in studies that aims with the aetiology of glioblastoma. Finally, as Director of the Genomic and Genetics Disorder Biobank (http://biobanknetwork.telethon.it) he has access to clinical data and handle diverse biospecimens (nucleic acid, cell lines and others) of a very large cohort of individuals with rare genetic diseases and their relatives. Giuseppe Merla is (co-)author of >110 publications in peer-reviewed international scientific journals, with an H-index of 33. He serves as ad hoc reviewer for dozens international journals, including Am J Hum Genet, J. Med. Genet, Genome Medicine and for the most important international funding Agencies, like NIH and ERC. He is PI of projects granted by Telethon, AIRC, Ministry of Health, Ministry of Foreign Affairs, European H2020 program, and Private Foundations

Dr Gabriella Maria Squeo obtained her Bachelor’s degree in Biomedical laboratory Techniques and in 2019 obtained her Master’s Degree in Sanitary Biology at the University of Siena. In 2020, she awarded a PhD scholarship in Neuroscience and Education (Curriculum Neuroscience), XXXVI cycle, at the University of Foggia, and the same year she was admitted to the Postgraduate Specialization Course in Medical Genetics at Sapienza University of Rome. Her current research topic is the study of genetic rare diseases, specifically Chromatinopathies. Gabriella Maria Squeo is (co-) author of 15 publications in peer-reviewed international scientific journals

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