Bolsas PhD - Centre of Human Genetics, Ricardo Jorge

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Bolsas PhD - Centre of Human Genetics, Ricardo Jorge

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PhD project

Title: Identification of novel genes involved in translocation associated human anomalies and elucidation of the genetic molecular mechanisms of these.

Duration of thesis:The expected duration of the thesis is about 4 years.

Admission Requirements:
- Candidates should hold an academic qualification “licenciatura” (Bachelor of Science) degree in: Biology, Biochemistry, Medicine; Veterinary Medicine or in related fields.
- Experience in Molecular and/or Cellular Biology or in an area related with the project is required.
- Candidates should have MS degree in an area related with the project or at least 16 points according to the Portuguese classification system.


Working Place: Centre of Human Genetics, National Institute of Health “Dr. Ricardo Jorge”, Av. Padre Cruz, 1649-016 Lisbon, Portugal. The project will involve international exchange and cooperation.

Financial Support and Conditions:Please note that funding needs to be obtained either by the selected applicant alone, or a joint application involving the candidate and the supervisor must be submitted for the scholarships available at Fundação para a Ciência e a Tecnologia (FCT) http://www.fct.mces.pt/pt/apoios/bolsas ... osabertos/. This application contains three parts: one regarding the Ph.D. student, one regarding the supervisor and one including the project proposal. Details of the scholarships are also available at the same site (please follow link). The amount of the scholarship (in Portugal is 980€/month and abroad 1.7550€/month).

Applications, Deadlines and Evaluation of Candidates: Applications can be submitted in Portuguese or English and most include: a cover letter, detailed CV (including summaries of previous works or publications) at least two recommendation letters (including contact informations) and academic transcript.

Deadline for the applications is 5 of March 2006.

Deadline for the project proposal is 31 of March.

According to the FCT successful students will initiate their project in January 2007.

For further information please contact the Supervisor.

Candidates will be evaluated and pre-selected based on the submitted documents. Only the pre-selected group of candidates will be informed and invited for personal interview or contacted regarding the final selection process.

Applications most be sent to the Supervisor:

Dezsö David Ph.D.,
Associate Researcher,
Centre of Human Genetics
National Institute of Health “Dr. Ricardo Jorge”
Av. Padre Cruz
1649-016 Lisboa
Portugal
Fax: (+351) 217526410
Telephone: (+351) 217519322
e-mail: dezso.david@insa.min-saude.pt


Description of the project:

Cloning and molecular characterization of the breakpoint regions of disease-associated translocations is an important route for identification of novel genes involved in human disorders. Presently, several de novo or familial congenital anomaly-associated translocation have been mapped and characterized by our group.

In order to identify novel disease-associated candidate genes, the project will involve the characterization of additional disease-associated translocations and candidate genes as well as the elucidation of molecular mechanisms (especially position effect) of these.

Experimental work may include molecular cytogenetics (in-situ hybridization FISH and analysis), molecular biology, human genetics, comparative genomics, bioinformatics, probably generation of animal models (transfer of large genomic fragments and histological assays) and developmental biology.

Please consult some of the group papers i.e.:

Kutsche K., Yntema H., Brandt A., Jantke I., Nothwang H.G., Orth U., Boavida M.G., David D., Chelly J., Fryns J.P., Moraine C., Ropers H.H., van Bokhoven H., Gal A. Mutations in alpha PIX, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nature Genetics, 26:247-250, 2000.

http://www.ncbi.nlm.nih.gov/entrez/quer ... t=Abstract

Dezsö David, Joana Cardoso, Bárbara Marques, Ramira Marques, Eduardo D. Silva, Heloísa Santos, Maria G. Boavida. Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible position effect on TGFB2 in the pathogenesis of Peters’ anomaly. Genomics, 81(5):489-503, 2003.

http://www.ncbi.nlm.nih.gov/entrez/quer ... t=Abstract
PhD project is available

Title: Evolutionary sorting of large DNA segments in cancer and genomic disorders

Duration of thesis:
The expected duration of the thesis is about 4 years.

Admission Requirements:
- Candidates should hold an academic qualification “licenciatura” (Bachelor of Science) degree in: Biology, Biochemistry, Medicine; Veterinary Medicine or in related fields.
- Experience in Molecular and/or Cellular Biology or in areas related with the project is required.
- Candidates should have MS degree in an area related with the project or at least 16 points according to the Portuguese classification system.



Working Place: The project will involve international exchange and cooperation.

Karolinska Institute, Microbiology and Tumorbiology Center Stockholm, Sweden, and Centre of Human Genetics, National Institute of Health “Dr. Ricardo Jorge”, Av. Padre Cruz, 1649-016 Lisbon, Portugal.


Supervisors:
Stefan Imreh, PhD
Associate Professor, Karolinska Institute
Microbiology and Tumorbiology Center
Nobelsväg 16
17177 Stockholm, Sweden
tel: 08-52486770
mobile: 073-9065595
fax: 08-330498
e-mail: Stefan.Imreh@mtc.ki.se


Dezsö David Ph.D.,
Associate Researcher,
Centre of Human Genetics
National Institute of Health “Dr. Ricardo Jorge”
Av. Padre Cruz
1649-016 Lisboa
Portugal
Fax: (+351) 217526410
Telephone: (+351) 217519322
e-mail: dezso.david@insa.min-saude.pt


Financial Support and Conditions: Please note that funding needs to be obtained either by the selected applicant alone, or a joint application involving the candidate and the supervisor must submited for the scholarships available at Fundação para a Ciência e a Tecnologia (FCT) http://www.fct.mces.pt/pt/apoios/bolsas ... osabertos/. This application contains three parts: one regarding the Ph.D. student, one regarding the supervisor and one including the project proposal. Details of the scholarships are also available at the same site (please follow link). The amount of the scholarship (in Portugal is 980€/month and abroad 1.7550€/month).


Applications, Deadlines and Evaluation of Candidates: Applications can be submitted either to Stockholm or to Lissabon in Portuguese or English and most include: a cover letter, detailed CV (including summaries of previous works or publications) at least two recommendation letters (including contact informations) and academic transcript.

Deadline for the applications is 5 March 2006.

Deadline for the project proposal is 31 of March.

According to FCT successful students will initiate their project in January 2007.

For further information please contact one of the Supervisors.

Candidates will be evaluated and pre-selected based on the submitted documents. Only the pre-selected group of candidates will be informed and invited for personal interview or contacted regarding the final selection process.


Description of the project

The project intends to explain the apparent contradiction between the relatively large size of cancer associated deletions and the presumption that these are linked to inactivation of individual genes.

We intend to test functionally the following hypothesis: Genes and regulatory units in the genome are sorted during the evolution on a functional basis. Conserved segments that are stable both in evolution and functionally, may contain multiple genes/regulatory units that control normal mitotic activity. In contrast cancer associated breakpoint regions coincide with synteny breaks, contain multiple paralogs or segmental duplications and other instability features (including miRNA sites) and are called evolutionarily plastic regions. Evolutionary plasticity may be involved in genomic disorders including constitutional translocations. The evolutionary stable and plastic regions have different expression pattern.

The project trains in 1. tumor biology, 2. human genetics, 3. comparative genomics, 4. bioinformatics and will include experiments concerning chromosome transfer, transfer of large 100-800 kb genomic fragments in normal regulatory context, RNAi inactivation of key genes and serial inactivation of multiple genes in candidate regions. Along molecular methods FISH based cytogenetics will be employed.

Please consult the group recent papers i.e.:

Kost-Alimova M et al, Proc Natl Acad Sci USA, 100, 6622-6627, 2003, Imreh S et al, Genes Chromosomes and Cancer, 38, 307-321, 2003, Sharp TV et al, Proc Natl Acad Sci USA,101, 16531-15636, 2004, Darai E et al, Genomics,86, 1-12, 2005.

Kutsche K et al, Nature Genetics, 26: 247-250, 2000. David D et al, Genomics, 81: 489-503, 2003.

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