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Professional Activities

PREIMPLANTATION GENETIC DIAGNOSIS (PGD) ACTIVITY

In 1998, under Dr. Fiorentino's leadership, GENOMA started the first PGD laboratory in Italy. This facility made it possible for GENOMA to test IVF embryos for genetic factors and to prevent genetic diseases in the offspring of at-risk families.

Today, GENOMA has over a decade of experience in the field and is one of the few centers in the world that has the skill level required to offer high quality and reliable testing. The GENOMA 's PGD program is one of the worldwide leaders in both in quality and volume, and has developed several important new disease-related PGD tests. Dr. Fiorentino was instrumental in forming the PGD, contributing in performing over 1000 PGD cycles for singe gene disorders; hundreds of patients have benefited from his experience and dedication. He has been involved in developing each of the tests currently offered in the PGD lab for both single gene defect testing by polymerase chain reaction (PCR) and chromosomal testing by fluorescence in situ hybridization (FISH). PGD protocols are available for over 150 different genetic conditions. GENOMA have been the first lab in the world in performing a PGD cycle for many of them.

Dr. Fiorentino also conceived and implemented the innovation of using Minisequencing technique for mutation detection on single cells. This procedure is now widely used by most of the centers performing PGD testing.

Dr. Fiorentino has also introduced, first in his country and one of the first in the world, an approach for PGD of genetic disorders combined with HLA testing. This resulted several well-known studies where the cord blood of unaffected children, born after PGD, was used for saving the life of affected siblings with Sickle cell disease, Beta-thalassemia, Fanconi anemia, Adrenoleukodystrophy, Wiskott Aldrich’ syndrome, Chronic granulomatous disease, Duncan syndrome, Mannosidosis Alpha, Hurler syndrome, Gaucher disease, Bruton agammaglobulinemia, Glanzmann thrombasthenia, Acute lymphoblastic leucemia, Severe aplastic anemia, Diamond Blackfan anemia and Histiocytosis. These ‘designer babies’ led to headlines in Italy and across the world. This important step enabled his Centre to become one of the five clinics worldwide offering this therapeutic application.

Dr. Fiorentino then initiated the PGD for inherited predisposition to cancer, such as familial adenomatous polyposis coli (FAP), Von Hippel-Lindau syndrome (VHL), Retinoblastoma, Li Fraumeni syndrome, or Neurofibromatosis. Recently, he has extended the use of this technique also for late onset disorders, such as Huntington disease and Alzheimer’s disease, demonstrating the great usefulness of preimplantation diagnosis for the wide range of common disorders of adult life.

Dr. Fiorentino’s clinical success has been achieved in collaboration with several other geneticists in the team. Their success led them to the routine use of PGD to diagnose chromosome abnormalities and monogenic disorders in preimplantation embryos. This team has become the world’s leaders in both fields. Current research activity remains focused in developing new PGD techniques.

His enthusiasm for his field and to help patients worldwide is shown by his establishment an international network of IVF and Preimplantation Genetics Centres, to assist clinics throughout Europe and Middle East offering PGD services, performing many hundreds clinical cycles annually. His network’s current accumulated experience in preimplantation genetic diagnosis provides a substantial contribution to the overall world experience.


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