Medical genetics - Patents![]()
Group
Inventors
Alfredo Brusco; Elisa Giorgio
Patent title
Terapia mediata da RNA di interferenza per malattie neurodegenerative
Filing date
25/10/2017
Application number
102017000121288
Link
https://www.unito.it/ricerca/brevetti-e-spin/i-nostri-brevetti/malattie-neurodegenerative/terapia-mediata-da-rna-di
Abstract
The present invention concerns RNA interference mediated therapy for Adult-onset autosomal dominant leukodystrophy (ADLD), a slowly progressive neurodegenerative disease caused by an excessive lamin B1 (LMNB1) production due to gene duplications or to an alteration in the lamin B1 regulatory landscape.
ADLD is a hereditary, progressive and fatal disorder affecting myelin in the central nervous system. Since, ADLD is caused by LMNB1 gene duplication-mediated overexpression, the paramount choice for ADLD treatment would be a drug capable of restoring physiological levels of LMNB1 expression. We developed the first therapeutic option for ADLD. Our therapeutic strategy is able to restore physiological LMNB1 levels in ADLD patients exploiting allele-specific siRNAs (ASP-siRNAs) targeting a frequent polymorphism in heterozygous state in patients. These ASP-siRNAs are able to silence specifically one Lamin B1 allele (the extra copy) in the genome of ADLD patients, maintaining transcriptionally active the two physiological LMNB1 alleles, as in control subjects. The treatment represents the first therpaeutic option for ADLD and a proof-of-concept in the use of ASP-silencing as treatment for genetic disorders due to gene duplications."
Group
Inventors
Alfredo Brusco; Alessandro Brussino; Claudia Cagnoli
Patent title
Test genetico per la diagnosi di SCA1, 2, 3, 6, e 7
Filing date
18/10/2016
Application number
102016000104631
Link
https://www.unito.it/ricerca/brevetti-e-spin/i-nostri-brevetti/malattie-neurodegenerative/test-genetico-la-diagnosi-di
Abstract
Spinocerebellar Ataxias (SCA) are a group of hereditary autosomal-dominant neurodegenrative diseases. Following EMQN guidelines, the ""Tethering PCR"" technique has been developed so that a molecular genetics laboratory could rapidly, reliably and affordably diagnose the five most common SCA subtypes: SCA1, 2, 3, 6, and 7.
At present, there are no standardized techniques for the molecular diagnosis of SCAs. Moreover, to complete the diagnosis laboratories are often required to perform secon-level tests that are both expensive and time-consuming. Thanks to the optimized PCR protocols and automatic sequencer runs, our techniqe allows the rapid and simultaneous tesing of SCA1, 2, 3, 6, and 7. The patented ""Tethering PCR"" technique allows to clearly discriminate between normal and affected subjects counting the number of CAG trinucleotide repeats in both alleles, without using second-level techniques. These repeats, encoding for the Glutamine amino acid, are associated to the disease if they exceed a given number (different for each SCA subtype). Moreover, the number of repeats may correlate with both with the age at onset and the severity of the disease."
Group
Inventors
G. L. Moroncini; FUNARO Ada; Gabrielli E. V.; Avvedimento S.; Svegliati Baroni M.; Santillo R. Paternò
Patent title
Epitopes of the human PDGF receptor able to bind human auto-antibodies, antibodies and thereof
Filing date
2012
Application number
WO/2012/013813
Link
https://patentscope.wipo.int/search/en/detail.jsf?docId=WO2012013813
Abstract
The present invention refers to peptides comprised in the extracellular region of human PDGF receptor (hPDGFR) alpha, their use for detecting auto-antibodies anti-hPDGFR alpha and to a method for the diagnosis or the monitoring control for therapy of SSc. The present invention also refers to antibodies or recombinant or synthetic derivatives thereof able to recognize and bind to the above peptide and to their use in the treatment of SSc.
Genetica Medica
Group
Inventors
Funaro Ada; Gribaudo Giorgio; Landolfo Santo Giuseppe
Titolo brevetto
Antibodies against Human Cytomegalovirus (HCMV)
Filing date
2009
Application number
WO/2009003975
Link
https://patents.google.com/patent/WO2009003975A1/es
Abstract
The present invention provides novel antibody sequences that bind and neutralize hCMV, and that can be used for preparing compositions for detecting, treating, inhibiting, preventing, and/or ameliorating hCMV infection or an hCMV-related disease. A population of immortalized, human B cells was divided in subcultures, and each subculture was tested for the presence of antibodies in the cell culture supernatant that bind and neutralize hCMV. Among the neutralizing subcultures, the isotype and clonality was determined for the antibodies secreted by the subculture named 1F7. These antibodies recognize a segment in the hCMV envelope glycoprotein H (gH) known to be bound by antibodies that neutralize hCMV infection. The antibody secreted by this subculture has been purified and the neutralizing ability confirmed using in vitro models for hCMV infection. The DNA sequences that encode the variable regions of the antibody secreted by the 1F7 subculture were amplified, cloned, and sequenced. The corresponding protein sequences were analyzed to identify the Complementarity Determining Regions (CDRs) that are responsible for the hCMV-specific biological activity. These sequences can be used for producing recombinant proteins having hCMV-specific binding and neutralizing properties, in the form of full antibodies, antibody fragments, or any other format of functional protein (e.g. bioactive peptide, fusion proteins) using appropriate expression vectors, host cells, and protein purification technologies. Compositions having therapeutic, prophylactic, and/or diagnostic utility in the management of hCMV infection and hCMV-related disorders can be prepared using these recombinant proteins, or the antibodies purified from cell cultures that have been generated using the 1F7 subculture
Group
Inventors
Funaro Ada; Garotta G; Murphy M.
Patent title
Methods for obtaining immortalized antibody secreting cells
Filing date
2007
Application number
WO/2007/068758
Link
https://patentscope.wipo.int/search/en/detail.jsf?docId=WO2007068758
Abstract
The present Invention provides novel methods for immortalizing cells that secrete antibodies of one or more specific isotypes. Polyclonal, oligoclonal, and monoclonal populations of cells obtained using the methods of the Invention can be screened on the basis of the functional and/or binding activities of the antibodies they secrete, for example directed to antigens of human or viral origin having medical interest, in cell culture conditions. Using these methods, human B cells that secrete antibodies binding human Cytomegalovirus, Herpes Simplex Virus, or HSP60 protein have been efficiently immortalized with Epstein-Barr virus.
Group
Inventors
Matullo Giuseppe; Barbara Pardini
Petent title
UromiRNA per la diagnosi in vitro di tumore alla vescica
Filing date
30/11/2017
Application number
102017000138247
Link
https://www.unito.it/ricerca/brevetti-e-spin/i-nostri-brevetti/oncologia/uromirna-la-diagnosi-vitro-di-tumore-alla
Abstract
Bladder cancer is the most frequent malignancy of the urinary tract after prostate cancer. Its prevalence and the relapsing nature pose this cancer as an enormous burden on health care systems. No screening plans for an early diagnosis of this cancer are currently available. Moreover, there are no suitable biomarkers for the detection of relapse/progression or to accurately predict disease progression especially for specific subtypes of bladder cancer.
In the attempt to improve diagnostic accuracy and overcome the disadvantages of current diagnostic strategies, biomarkers found in easily accessible biofluids, such as urine, represent a non-invasive and promising approach. The inventors defined a procedure, based on next-generation sequencing, to detect specific urinary miRNA signatures that can be used to distinguish at diagnosis bladder cancer cases from healthy controls. The urinary miRNA signatures detected are able to distinguish the differential subtypes of bladder cancer.
Group
Transplants genetics and immunology
Inventors
Deaglio Silvia; Vaisitti Tiziana; Sorbini Monica
Patent title
Diagnosi non invasiva del rigetto acuto nel trapianto di organo solido
Filing date
1/4/2022
Application number
102022000006512
Link
https://www.unito.it/ricerca/brevetti-e-spin/i-nostri-brevetti/altre-patologie/diagnosi-non-invasiva-del-rigetto-acuto
Abstract
Transplanted patients need to be monitored by a series of clinical, instrumental and laboratory tests, repeated on a regular basis to avoid episodes of acute rejection, experienced by about 30% of patients.
The method of choice for evaluating acute rejection is tissue biopsy of the transplanted organ. This approach, however, is very invasive and consequently cause discomfort and stress for the patient. Also, it is characterized by an important degree of inter-operator variability for the evaluation of the degree of rejection. This can result in inappropriate treatment with immunosuppressive drugs that increase the risk of infections, a further potentially life-threatening complication in recipients.
Our researchers developed a method based on droplet digital PCR (ddPCR) to quantify dd-cfDNA a biomarker consisting in DNA fragments released by the cells of the transplanted organ into the recipient's blood. One of the advantages of this biomarker is that the dd-cfDNA is obtained through a simple venous blood sample. The ddPCR is a method that allows to obtain quantitative and accurate results with great sensitivity and specificity. Compared to next generation sequencing technology (NGS), the ddPCR is cheaper and reduces analysis times.
Group
Inventors
Silvia Deaglio; Valentina Audrito
Patent title
Procedimento immunologico e kit per la diagnosi in vitro di patologie tumorali e/o infiammatorie
Filing date
20/02/2018
Application number
102018000002866
Link
https://www.unito.it/ricerca/brevetti-e-spin/i-nostri-brevetti/laboratorio-e-processi/diagnosi-vitro-di-patologie
Abstract
The Nicotinic acid phosphoribosyltransferase (NAPRT) Bio-plex/Luminex assay is used for the in vitro quantitative determination of human NAPRT in biological fluids, including culture supernatants and serum or plasma. A very similar enzyme, nicotinamide phosphoribosyltransferase (NAMPT), is present in the extracellular space, and its levels increase in inflammatory/metabolic conditions, including in cancer. Because NAMPT is structurally and functionally related to the NAPRT enzyme, then the inventors have hypothesized a possible role in the extracellular space also for the NAPRT.
An ad hoc commercial NAMPT enzyme-linked immunosorbent assay (ELISA) can be used to evaluate extracellular NAMPT concentrations. On the contrary, nothing is known about the presence of NAPRT in the extracellular space, and there are no commercially available assays to determine extracellular NAPRT levels. This assay was therefore set up to quantify NAPRT levels in human plasma/serum or in culture supernatants. To do so, we exploited luminex technology and commercially available monoclonal and polyclonal antibodies. Commercially available recombinant proteins were used to build a titration curve. The assay is for research only, is ready to use and is very sensitive.