BrainMap

Ana Iulia Neagu

- INSTITUTUL DE VIRUSOLOGIE "STEFAN S.NICOLAU"

Researcher

Web of Science ResearcherID: not public

Expertise & keywords

Implementation of a complex genome profiling diagnostic algorithm for patients with congenital and developmental abnormalities Call name: Joint Applied Research Projects - PCCA 2013 - call
PN-II-PT-PCCA-2013-4-2240 2014 - 2017

Role in this project:

Coordinating institution: INSTITUTUL DE VIRUSOLOGIE "STEFAN S.NICOLAU"

Project partners: INSTITUTUL DE VIRUSOLOGIE "STEFAN S.NICOLAU" (RO); INSTITUTUL NATIONAL PENTRU SANATATEA MAMEI SI COPILULUI "ALESSANDRESCU-RUSESCU" BUCURESTI (RO); UNIVERSITATEA DE MEDICINA SI FARMACIE "GR. TH. POPA" (RO); PERSONAL GENETICS S.R.L. (RO)

Affiliation: INSTITUTUL DE VIRUSOLOGIE "STEFAN S.NICOLAU" (RO)

Project website: http://www.virology.ro/ro/congen-proiect

Abstract:

The proposed project will set up a consortium in genomics, aiming at the implementation of new investigation methods in clinical practice that could contribute to the elucidation of the molecular mechanisms of congenital and developmental abnormalities with a final practical goal in prophylaxis and better clinical management of patients. The project corresponds to the direction 4 - HEALTH and its objectives refer to the national implementation of new prevention and intervention methods in accordance with European standards (4.1.6). The major objectives of the project are:

1) Investigation of genetic abnormalities in Romanian patients with congenital/developmental disorders aiming to identify possible new genomic variants;

2) Integration in the international endeavor of identifying and confirming new genomic variants for these rare disorders through active participation and inclusion of the Romanian data in the multi-center international consortia.

3) Implementation of a complex genome profiling diagnostic algorithm for patients with congenital and developmental abnormalities and use the integrated results for improving diagnostic yield, genetic counseling and clinical management.

The partnership consists of Stefan S. Nicolau IVN Bucharest, that will set-up the cells/DNA/RNA sample bank and perform PCR, MS-MLPA, sequencing analysis; Alfred Rusescu IOMC Bucharest and Grigore T. Popa UMF Iaşi that will recruit the patients, perform the phenotype/formal-genetic analysis and clinical management of the patients, and Personal Genetics Ltd. which will perform aCGH and next generation sequencing, will integrate the results of the analysis and will apply the resulting algorithm, firstly in their practice, and next will disseminate it to a clearly defined target market. The consortium represents a specialized and complementary team, capable to advancing the knowledge on clinical management, prevention, and eventually, therapy of congenital and developmental abnormalities, and to join international research effort in this direction.

GENOMEWIDE STUDY OF BIPOLAR I DISORDER AND GUIDE FOR ASSESSING THE GENETIC RISK FOR BIPOLAR I DISORDER IN THE ROMANIAN POPULATION Call name: Joint Applied Research Projects - PCCA-2011 call, Type 2
PN-II-PT-PCCA-2011-3.2-1628 2012 - 2016

Role in this project:

Coordinating institution: SPITALUL CLINIC DE PSIHIATRIE PROF.DR.ALEXANDRU OBREGIA

Project partners: SPITALUL CLINIC DE PSIHIATRIE PROF.DR.ALEXANDRU OBREGIA (RO); INSTITUTUL DE VIRUSOLOGIE "STEFAN S.NICOLAU" (RO); UNIVERSITATEA BUCURESTI (RO); PERSONAL GENETICS S.R.L. (RO)

Affiliation: INSTITUTUL DE VIRUSOLOGIE "STEFAN S.NICOLAU" (RO)

Project website: http://www.bio.unibuc.ro/index.php?option=com_content&view=article&id=212%3

Abstract:

Medicine develops into three directions: prevention, prediction and personalization. Bipolar I disorder (BPI) is a chronic major psychiatric disease with a polygenic basis not yet elucidated. The objectives of the project are: 1) fine mapping of two haplotypes in NCAN and MAD1L1 genes found associated with BPI in a previous genomewide association study (GWAS) (Cichon et al, Am J Hum Genet, 2011) in which the project coordinator was involved; 2) a GWAS of the response to lithium therapy aiming at detecting the genotypes linked to positive response; 3) estimating morbid risks (MR) for relatives of BPI patients valid for the Romanian population; 4) determining the structure of Mad1 and Mad2 molecules and their neurobiological consequences with potential impact on drug development; 5) development of a guide for genetic counseling containing genotypes associated with BPI in the Romanian population, MR for relatives of patients, phenotypic variables that increase MR and genotypes predicting the positive response to lithium. The study will be conducted in an international consortium including Romanian partners. A Romanian sample of about 550-570 patients and 550-570 controls will be integrated in an international sample of several thousands of patients and controls that will be genotyped with high-throughput methods (Illumina, Sequenom) by Romanian researchers at the German partner and with next generation sequencing technology atone of the Romanian partners. Probands and their available first degree relatives will be investigated with DIGS and FIGS interviews and will provide psychiatric family history necessary for estimating MR. The response to lithium therapy in patients treated at least one year will be rated with the Alda scale. Our sample of lithium-patients will be integrated in the international lithium sample for genotyping. The biometric and molecular results of the study will be implemented in personalized medicine by a private health care company and disseminated among specialists.

Hepatocellular carcinoma stratification based on noninvasive markers Call name: EEA Research Programme under EEA Financial Mechanism 2009-2014
EEA-JRP-RO-NO-2013-1-0363 2013 -

Role in this project:

Coordinating institution: INSTITUTUL CLINIC FUNDENI

Project partners: INSTITUTUL CLINIC FUNDENI (RO); UNIVERSITATEA "TITU MAIORESCU" (RO); UNIVERSITATEA OVIDIUS (RO); Norwegian University of Science and Technology (NO); Nuclear Organization and Oncogenesis Unit (INSERM U993) at the Institut Pasteur (FR)

Affiliation: UNIVERSITATEA "TITU MAIORESCU" (RO)

Project website:

Abstract:

The major goal of the project “Hepatocellular carcinoma stratification based on noninvasive markers” (HEPMARK) in accordance the EEA Research Programme objectives is to stimulate multidisciplinary research by creating and supporting a network for translational science that brings together scientists from Romania, Norway and France.

HEPMARK proposes a concept of research that would identify using expression miRNAs expression, a high-risk group of patients with liver cancer who may develop intrahepatic recurrence/ distant metastasis. Currently is an unmet need to improve the accuracy of hepatocellular carcinoma (HCC) score stratification by incorporation of new non-invasive molecular assays. Moreover, the possibilities to develop the new systems that predict the likelihood of recurrence after curative treatment, including miRNA and angiogenetic factors are needed. Thus, our hypothesis is that primary liver cancers release miRNAs within exosomes transported in the peripheral blood that facilitate the metastatic niche. We intend to use miRNA circulating and angiogenic panel for HCC patients’ stratification. More accurate preoperative selection criteria will allow better patient selection and better allocation of the HCC patients in case of curative treatment.

The project specific objectives are:

Obj_1: To quantify the expression of microRNA species in serum exosomes from patients with non-metastatic HCC and distant metastases/ intrahepatic recurrence

Obj_2: To characterize angiogenic plasma biomarker patterns of HCC and imaging biomarkers in correlation with microRNA markers

Obj_3: To characterize epigenetic changes (DNA and histones) resulting in microtranscriptomic alterations

Obj_4: To create new clinical guidelines for the use of serum and tissue tumor markers for early detection, as well as for differentiation between HCC patients (patients’ stratification).

The project will achieve the following results with practical relevance:

1. Identification of circulating microRNAs as biomarkers of HCC for detection and evaluation of disease aggressiveness in patients at risks

2. Development of a panel of circulating microRNAs, proteins and imaging parameters as biomarkers of response in HCC

3. To test prospectively biomarker candidates for optimization and future translation in clinical practice guidelines for patient’s stratification depending on selected markers

4. Integration of Romanian research groups into a strong network with proficiency in HCC translational research

The strong points that guarantee the success of the project are:

- the proposed project continues the research interest of consortium in the field of molecular biology of HCC which have investigated molecular predictive factors from tissue specimens. One of the strengths of the current project is that it expands the pannel of molecular markers with microRNA species in serum exosomes quantified in patients’ blood samples.

- the consortium has already created a functional network that may easily sustain the fulfillment of present project.

- The consortium is formed by renowned scientists in the field of molecular biology, genomics and clinical practice as sustained by their recent publications in Nature Genetics, PlosOne, Cancer Res. etc, which is the guarantee for a good management of the research outputs.

- The sample size is statistically valid

The results of this project will impact directly the strategic area of health care by improving the quality of clinical decision –making for a specific group of HCC patients.

Our findings may have significant translational relevance for development of new molecularly targeted therapies for patients with HCC. We intend to exploit this knowledge to develop targeted therapies of HCC based on the microRNA dysregulation.

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