Giulia Casamassima
Verified @gmail.com
EDUCATION
Università degli Studi di Bari Aldo Moro Dipartimento di Bioscienze Biotecnologie e Biofarmaceutica: Bari, Puglia, IT
2019 fino a 2022 | (Dipartimento di Bioscienze Biotecnolog ie e Biofarmaceutica)
RESEARCH, TEACHING, or OTHER INTERESTS
General Biochemistry, Genetics and Molecular Biology, Medicine
FUTURE PROJECTS
Is CHEK2 a new susceptibility gene for retinoblastoma?
• Purpose. Following the advent of exome analysis, some reports of single cases of retinoblastoma with pathogenic variants in genes other than RB1 have been reported. We decided to establish if was a coincidence or a real demonstration of additional retinoblastoma genes. • Methods. We performed clinical exome in 16 cases of "non-RB1" belonging to Siena Medical Genetics Unit. Sample preparation was performed following the nextera flex for enrichment manufacturer protocol. The workflow uses a bead-based transposome complex to tagment genomic DNA. Following tagmentation, a limited-cycle pcr adds adapter sequences to the ends of a dna fragment. Following pooling, the double stranded DNA libraries are denatured and biotinylated trusight one expanded oligonucleotide probles are hybridized to the denatured library fragments. The captured and indexed libraries are eluted from beads and further amplified before sequencing. The exome sequencing analysis was performed on the illumina Novaseq6000
Applications Invited
Pathophysiology of osteoporosis: role of hidden cortisol excess and its predictors in bone fragility
Osteoporosis is a chronic skeletal disease which leads to a decrease in bone strength which increases the risk of fractures. In 2017, in Italy, 560,000 fragility fractures occurred and resulted in health costs for the National Health Service of about € 9.4 billion. Moreover, both the fracture incidence and the health expenditure continue to grow due to the progressive aging of the Italian population. Clinically overt hypercortisolism (i.e. Cushing¿s syndrome) leads to hypertension, central obesity, diabetes and osteoporosis. More recently, even the condition of mild and asymptomatic hypercortisolism has been associated with increased prevalence of chronic complications of cortisol excess and mortality. In patients with osteoporosis this form of hypercortisolism may remain occult (hidden hypercortisolism, HidHyCo), until its presence is suspected on the basis of particular characteristics of the underlying disease. By definition, HidHyCo is a condition of cortisol excess in the absence
Applications Invited