Implementation of a complex genome profiling diagnostic algorithm for patients with congenital and developmental abnormalities (CONGEN)

Results

WP1: Establishing the conceptual model for Romanian sample recruitment, defining experimental protocols and enrollment of the first patients – 2014

 

Articles – Accepted for publication:

1. A concise review of Hox genes: the molecular bridges between developmental anomalies and cancer, Rom Biotech Letters.

 

Oral presentations:

 

- Dysmorphology and radiology of Inborn Errors of Metabolism, Manchester, United Kingdom, 16-17.10.2014

 

Case presentation, Vasilica Plaiasu.

 

- IOMC “ Prof.dr.Alfred Rusescu” Days, 27-29.11.2014, Bucuresti

1. Anomaliile cromozomiale in practica medicala, Vasilica Plaiasu, Ochiana Diana, Motei Gabriela, Abstract publicat in Revista Romana de Pediatrie, supliment abstracte Zilele Institutului pentru Ocrotirea Mamei si Copilului “ Prof.dr.Alfred Rusescu”, 2014.

 

WP2: Romanian sample expansion, experimental analysis and integration of the data in international repositories - 2015

 

Articles - Accepted/ Epub ahead of print/publshed in extenso:

1. A concise review of Hox genes: the molecular bridges between developmental anomalies and cancer, Rom Biotech Letters; 2015, 20(3), 10504- 10511, IF 0,404; 

2. Epigenetics in gastric carcinogenesis: TET genes as important players. Laura Georgiana Necula, Cristina Mambet, Radu Albulescu, Carmen C. Diaconu. Journal of Immunoassay and Immunochemistry 2015; 36(5): 445-455.
3. Comparative molecular approaches in Prader-Willi syndrome diagnosis. Botezatu A, Puiu M, Cucu N, Diaconu CC, Badiu C, Arsene C, Iancu IV, Plesa A, Anton G., Gene. 2016 Jan 10;575(2P1):353-358. doi: 10.1016/j.gene.2015.08.058. Epub 2015 Sep 1, IF 2,235; 

4.  Neonatal Graves-Basedow disease due to long-standing Trab persistence following total thyroidectomy, Emiliana Teodora Dragomir-Ananie, Camelia Procopiuc, Florea Caliopsia, Maricica Gusa, Carmen Cristina Diaconu, Journal of Translational Medicine and Research, 20(3) 168-171, Oct 2015.

International and national conferences:

European Human Genetics Conference, 6 – 9 iunie 2015, Glasgow

1. Cytogenetic approach of girls with short stature: unrelated 6 cases with structural X chromosome abnormalities, Plaiasu V., Ochiana D., Motei G., Brezan F., Anca I., Abstract in European Journal of Human Genetics, vol. 23, Supplement 1, June 2015, IF 4.580
2. Trisomy of the short arm of chromosome 10: description of three new cases, Diana Ochiana, Gabriela Motei, Vasilica Plaiasu, Florin Brezan, Ioana Anca, Abstract in European Journal of Human Genetics, vol. 23, Supplement 1, June 2015, IF 4.580

 

The 10th European Cytogenetics Conference, 4 – 7 July 2015, Strasbourg

1. Marker chromosome analysis in two patients with Turner syndrome variant resembling Kabuki phenotype, Plaiasu Vasilica, Ochiana Diana, Motei Gabriela, Anca Ioana. Abstract in Chromosome Research, vol.23, Supplement 1, July 2015

 

SSIEM (Society for the Study of Inborn Errors of Metabolism) 2015 Annual Symposium, 1 - 4 September 2015, Lyon

1. X-linked dominant condrodysplasia punctata: clinical phenotype in an affected female, V. Plaiasu, D. Ochiana, G. Motei, A. Coltoiu, SSIEM 2015 Annual Symposium, 1 - 4 Septembrie 2015, Lyon. Abstract in Vol.38, Suppl.1, Sept.2015, Journal of Inherited Metabolic Disease.

 

A VIII-a Conferinta Nationala de Genetica Medicala, 7-9 octombrie, Orastie, Romania

1. Sexual aneuploidy associated with a rare subtelomeric deletion – case report, Gabriela Motei, Diana Ochiana, Vasilica Plaiasu, Mirela Covacescu, Florin Brezan, Ioana Anca, Abstract in Romanian Journal of Rare Diseases, Supplement 1/2015

2. Cytogenetic and clinical assessment of a family with a rare recurrent translocation: coexistence of 10p trisomy and 2p25.1 monosomy, Diana Ochiana, Gabriela Motei, Vasilica Plaiasu, Florin Brezan, Ioana Anca. Abstract in Romanian Journal of Rare Diseases, Supplement 1/2015

 

Simpozion “Bolile rare: solidaritate medic-pacient-familie-asociatii de pacienti”, 25 februarie 2015, Bucuresti

1. Living with a rare disease - Day-by-day, hand-in-hand, Plaiasu Vasilica, Simpozion “Bolile rare: solidaritate medic-pacient-familie-asociatii de pacienti”.

2. Dificultati de diagnostic intr-un caz de tulburare de sexualizare, Gherghina Ioan. Cochino Alexis, Plaiasu Vasilica, Simpozion “Bolile rare: solidaritate medic-pacient-familie-asociatii de pacienti”.

3. Boala Hirschprung sindromatica cu transmitere familiala, Dobre Adelina, Dumitru Cristina, Paraschivescu Ana Maria, Ivan Adina, Tanasie Maria, Bar Gabriela, Craiu Mihai, Cretu Rodica, Brezan Florin, Ghita Lucica, Plaiasu Vasilica, Ioana Anca.

4. Diagnostic de boala rara la un sugar cu anomalii congenitale multiple, Farcas Oana, Covacescu Mirela, Plaiasu Vasilica, Dragostin Octavia, Ghita Lucica, Simpozion “Bolile rare: solidaritate medic-pacient-familie-asociatii de pacienti”.

5. Abordare complexa a unui caz de varsta pediatrica cu anomalie cromozomiala, Dumitru Cristina, Paraschivescu Ana Maria, Ivan Adina, Dobre Adelina, Tanasie Maria, Bar Gabriela, Cretu Rodica, Brezan Florin, Ghita Lucica, Nedea Catalin, Plaiasu Vasilica, Ochiana Diana, Motei Gabriela, Ioana Anca.

11th Balkan Congress of Human Genetics, 16-21.09.2015, Belgrad

„Implementation of a complex genome profiling diagnostic algorithm for patients with congenital and developmental abnormalities” Cristina Rusu, Mihaela Grămescu, Lavinia Caba, Monica Pânzaru, Lăcrămioara Butnariu, Elena Braha, Roxana Popescu, Setalia Popa, Vasilica Plăiaşu, Carmen Diaconu, Monica Stoian, Eusebiu Vlad Gorduza. – oral presentation

SYNEVO CLINICAL RESEARCH SYMPOSIUM XIV Ed, 13 nov 2015, Bucuresti

1. Molecularly targeted therapy - translation of genomics and cell biology data to rational therapeutic approaches for complex disorders, Carmen Diaconu, SYNEVO CLINICAL RESEARCH SYMPOSIUM editia a XIV-a, 13 noiembrie, Bucuresti.

“Zilele Institutului pentru Ocrotirea Mamei si Copilului” 10 -12 decembrie 2015, Bucuresti

1. Anomalii cromozomiale rare – diagnostic si management, Plaiasu Vasilica, Ochiana Diana, Motei Gabriela, Zilele Institutului pentru Ocrotirea Mamei si Copilului, 10-12 decembrie 2015

WP3: Molecular and clinical data analysis and integration of the results in clinical practice (I) - 2016

 

Articles - Accepted/E-pub ahead of print/published in 2016:

1. Botezatu A, Puiu M, Cucu N, Diaconu CC, Badiu C, Arsene C, Iancu IV, Plesa A, Anton G. Comparative molecular approaches in Prader-Willi syndrome diagnosis. Gene 575(2P1): 353-358, 2016, ISSN: 0378-1119, IF 2,235.

2. Mambet C, Matei L, Necula LG, Diaconu CC. A link between the driver mutations and dysregulated apoptosis in BCR-ABL1 negative myeloproliferative neoplasms. J Immunoassay Immunochem. 2016;37 (4):331-45.

3. Diana Chiru, Cristina Mambet, Lilia Matei, Coralia Bleotu, Simona Ruta, Carmen C Diaconu.  Delivering the “Blueprints” or “DNA Repairing Kits” Instead of Drugs in the Treatment of Congenital Hemoglobinopathies, Current Organic Chemistry (e-pub ahead of print), 20, DOI: 10.2174/1385272820666160511122404,  2016; FI: 1,949.

4. Anna Ngo, Ann Zhufang Koay, Christian Pecquet, Carmen C. Diaconu, Yasmine Ould-Amer, Qiwei Huang, Congbao Kang, Anders Poulsen, David Jenkins, Andrew Shiau, Stefan N Constantinescu, Meng Ling Choong, A phenotypic screen for small-molecule inhibitors of constitutively active mutant thrombopoietin receptor implicated in myeloproliferative neoplasms, Combinatorial Chemistry & High Throughput Screening, 19, 2016 Oct 10. [Epub ahead of print] FI 1.041.

 5. Daniela Murarasu, Liliana Puiu, Ioana Madalina Aldea Pitica, Cristina Mambet, Corina Elena Mihalcea, Augustin Marian Marincas, Sabin Cinca, Lorelei Brasoveanu, Carmen Cristina Diaconu. TP53 somatic mutations and LOH profile in colorectal cancer in Romania, Romanian Biotechnological Letters (acceptat). FI 0,412

 

Oral presentation at international and national conferences:

1. Cristina Mambet, Laura G. Necula, Coralia Bleotu, Ioana M Aldea-Pitica, Ana I. Neagu, Lilia Matei, Denisa Dragu, Mihaela Chivu-Economescu, Carmen C. Diaconu, Stefan N Constantinescu. Profiluri de fosforilare proteică în neoplasmele mieloproliferative BCR-ABL1 negative, comunicare orală la ediția 11 a Simpozionului Academician Nicolae Cajal, București, Martie 2016.

2. Carmen C. Diaconu și Coralia Bleotu - Prezentarea profilului si proiectelor de medicina personalizata ale Institutului de Virusologie in cadrul conferintei “Personalized Medicine” Bruxelles, 1-2 iunie, 2016.

3. Better diagnostics by current genomic technology, Plaiasu Vasilica, Ozunu Diana, Motei Gabriela, Zeleniuc Monica, Cardos Georgeta, Gurban Petruta, Dinulescu Gabriel, Neagu Ana, Necula Laura, Mambet Cristina, Aldea Pitica Ioana, Matei Lilia, Diaconu Carmen. A IX a Conferință de Genetică Medicală cu Participare Internaţională, Alba Iulia, 22-24 Septembrie 2016, Rezumatul lucrarii publicat in Romanian Journal of Rare Diseases Supplement 1/2016.

4. ArrayCGH – a valuable instrument in clarifying chromosomal abberation identified by conventional karyotype in postnatal diagnosis, Monica Zeleniuc, Vasilica Plaiasu, Vlad Gorduza, Diana Ozunu, Motei Gabriela, Carmen C.Diaconu, Petruta Gurban, Gabriel Dinulescu, Georgeta Cardos. A IX a Conferință de Genetică Medicală cu Participare Internaţională, Alba Iulia, 22-24 Septembrie 2016,  Rezumatul lucrarii publicat in Romanian Journal of Rare Diseases Supplement 1/2016

 

5. Rolul investigatiei citogenetice in diagnosticul bolilor genetice rare, Plaiasu Vasilica, Ozunu Diana, Motei Gabriela, Zilele INSMC „Interdisciplinaritatea in practica clinica” 9-10 decembrie 2016, Bucuresti

Posters presented at international conferences (abstract published in ISI journals):

1. Rare plurimalformative syndrome marked by dermatological phenotype associated with unbalanced chromosomal anomaly, V. Plaiasu, D. Ozunu, G. Motei, A. Coltoiu, M. Stoian, P. Gurban, G. Dinulescu, C. Diaconu. Conferinta Europeana de Genetica Umana, 21-24 mai 2016, Barcelona, Rezumatul lucrarii publicat in European Journal of Human Genetics, vol. 24E, Supplement 1, May 2016, ISI, IF 4,580.

2. Distal 14q trisomy - cytogenetic and clinical assessment of a family with a recurrent t(14;15)(q31.1;q26), D. A. Ozunu, M. Gabriela, V. Plaiasu, M. Stoian, P. Gurban, G. Dinulescu, C. Diaconu. Conferinta Europeana de Genetica Umana, 21-24 mai 2016, Barcelona, Rezumatul lucrarii publicat in European Journal of Human Genetics, vol. 24E, Supplement 1, May 2016, ISI, IF 4,580.

3. Distal 4q partial trisomy vs. distal 10q monosomy - report of a family with a t(4;10)(q31.3;q24), G. Motei, D. Ozunu, V. Plaiasu. Conferinta Europeana de Genetica Umana, 21-24 mai 2016, Barcelona, Rezumatul lucrarii publicat in European Journal of Human Genetics, vol. 24E, Supplement 1, May 2016, ISI, IF 4,580.

4. A new case of campomelic dysplasia with dextrocardia and without sex-reversal, Augustin I., Pavaloaia O., Pânzaru M., Martiniuc V., Gramescu M., Paduraru L., Stamatin M., Târnovan M., Onofriescu M., Gorduza E.V., Conferinta Europeana de Genetica Umana, 21-24 mai 2016, Barcelona, Rezumatul lucrarii publicat in European Journal of Human Genetics, vol. 24E, Supplement 1, May 2016, ISI, IF 4,580.

5. The use of different types of chromosomal analyses in clarification of aetiology of a plurimalfromative syndrome, Gramescu M., Caba L., Pânzaru M., Butnariu L., Braha E., Popescu R., Rusu C., Plaiasu V., Martiniuc V., Paduraru L., Stamatin M., Gorduza E.V. Conferinta Europeana de Genetica Umana, 21-24 mai 2016, Barcelona, Rezumatul lucrarii publicat in European Journal of Human Genetics, vol. 24E, Supplement 1, May 2016, ISI, IF 4,580.

6. Unusual structural abnormalities of small acrocentric chromosomes - difficulties of genetic counseling, Popa S., Popescu R., Braha E., Gramescu M., Graur E., Martiniuc V., Gorduza E.V. Conferinta Europeana de Genetica Umana, 21-24 mai 2016, Barcelona, Rezumatul lucrarii publicat in European Journal of Human Genetics, vol. 24E, Supplement 1, May 2016, ISI, IF 4,580.

Posters presented at international meetings (abstract published in national journals - IDB):

1. Rare chromosomal inversions with phenotypic abnormalities – two unrelated cases, Ozunu Diana, Plaiasu Vasilica, Motei Gabriela, Zeleniuc Monica, Cardos Georgeta, Gurban Petruta, Dinulescu Gabriel, Neagu Ana, Necula Laura, Mambet Cristina, Aldea Pitica Ioana, Matei Lilia, Diaconu Carmen. A IX a Conferință de Genetică Medicală cu Participare Internaţională, Alba Iulia, 22-24 Septembrie 2016, Rezumatul lucrarii publicat in Romanian Journal of Rare Diseases Supplement 1/2016

2. Complex cytogenetic assesment of a case with marker chromosome, Motei Gabriela, Ozunu Diana, Plaiasu Vasilica, Zeleniuc Monica, Cardos Georgeta, Gurban Petruta, Dinulescu Gabriel, Neagu Ana, Necula Laura, Mambet Cristina, Aldea Pitica Ioana, Matei Lilia, Diaconu Carmen. A IX a Conferință de Genetică Medicală cu Participare Internaţională, Alba Iulia, 22-24 Septembrie 2016, Rezumatul lucrarii publicat in Romanian Journal of Rare Diseases Supplement 1/2016

3. ArrayCGH approach for investigating a case of der(8)dn chromosome, Petruta Gurban, Monica Zeleniuc, Vasilica Plaiasu, Diana Ozunu, Motei Gabriela, Carmen C.Diaconu, Laura Necula, Gabriel Dinulescu, Georgeta Cardos. A IX a Conferință de Genetică Medicală cu Participare Internaţională, Alba Iulia, 22-24 Septembrie 2016, Rezumatul lucrarii publicat in Romanian Journal of Rare Diseases Supplement 1/2016

4. ArrayCGH analysis of two genomic imbalances on chromosome 8, Gabriel Dinulescu, Monica Zeleniuc, Vasilica Plaiasu, Diana Ozunu, Motei Gabriela, Carmen C.Diaconu, Ana Neagu, Petruta Gurban, Georgeta Cardos. A IX a Conferință de Genetică Medicală cu Participare Internaţională, Alba Iulia, 22-24 Septembrie 2016, Rezumatul lucrarii publicat in Romanian Journal of Rare Diseases Supplement 1/2016

 

WP4: Molecular and clinical data analysis and integration of the results in clinical practice (II) - 2017