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ROME CENTRE
Via Po, 102
00198 Rome (Centre)
Tel. + (39) 06 85304150
+ (39) 06 85358425
Fax. + (39) 06 85344693
ROME NORTH
Via Castel Giubileo, 11
00138 Rome (Salario)
Tel. : + (39) 06.8811270 (6 lines)
Fax : + (39) 06.64492025
ON-LINE BOOKING
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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.
PROFESSIONAL
ACTIVITIES
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