LITHUANIA


Prof. Loreta Cimbalistiene (Senior clinical geneticist, Professor)
Dept. of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University

Dept. of Genetic Counseling, Centre for Medical Genetics, Vilnius University Hospital, Santaros Klinikos


Team

Algirdas Utkus (Clinical geneticist, research professor)
Laima Ambrozaitytė (Senior medical geneticist, associate professor)
Deimantė Braždžiūnaitė
(Senior resident in clinical genetics)


Equipment and facilities

Every year Center for Medical Genetics is contacted by around 8000 people, and provides over 5000 genetic consultations. Around 3000 of those include full laboratory diagnostics of inherited diseases and congenital malformations. Prenatal Genetic Counselling is provided in a specialized department of the Center for Medical Genetics.

The Cytogenetics Laboratory performs around 900 chromosomal tests every year. The determined mutations of chromosomes of the constitutional karyotype are unique and therefore are revised by using specific molecular cytogenetic markers for each patient.

The Laboratory for Molecular Genetics provides molecular genetic testing for the purpose of confirming genetic disorders, prenatal diagnosis, presymptomatic testing and risk assessment. Molecular genetic diagnostics is performed from DNA extracted from blood, amniotic fliud, chorionic villus. Analysis is preformed by experienced laboratory specialists using classical and modern molecular technologies and software. Over 2500 different molecular genetic tests are performed every year. The Laboratory for Molecular Genetics is committed to the highest standards of molecular genetic diagnostic services for patient management.

The Laboratory for Neonatal Screening annually tests around 32000 newborns and diagnoses 10 to 16 new cases of these diseases, therefore helping the diagnosed patients avoid mental and physical disability.

Every year there is an increase in the amount of consultations, performed tests and introduced new diagnostic methods for the diagnostics of inherited metabolic disorders in the Center for Medical Genetics.


Topics of interest

  • Molecular genetic diagnostics
  • Genotype-phenotype correlations


Publications

  •  Birutė Tumienė, Borut Peterlin, Aleš Maver, Algirdas Utkus, Contemporary scope of inborn errors of metabolism involving epilepsy or seizures. Metab Brain Dis. 2018 Jul 13. doi: 10.1007/s11011-018-0288-1. [Epub ahead of print], p. 1-6.
  • Laura Pranckėnienė, Audronė Jakaitienė, Laima Ambrozaitytė, Ingrida Kavaliauskienė, Vaidutis Kučinskas, Insights Into de novo Mutation Variation in Lithuanian Exome. Frontiers in Genetics, August 2018 | Volume 9 | Article 315, p.1-8, https://doi.org/10.3389/fgene.2018.00315.
  • L. Gueneau, R. J. Fish, H. E. Shamseldi, ... E. Preiksaitiene, L. Ambrozaityte, L. Cimbalistienė, V. Kučinskas et al. KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. American Journal of Human Genetics. – ISSN 0002-9297. – 2018, vol. 102, iss. 1, p. 116–132.
  • M. E. Rubio-Gozalbo, A. M. Bosch, A. Burlina, G. T. Berry ... [et al.] Steering Committee on behalf of all Galactosemia Network representatives, [from Lithuania B. Burnytė]. The galactosemia network (GalNet). Journal of inherited metabolic disease. 2017, Vol. 40, no 2. p. 169-170, ISSN: 0141-8955; DOI: 10.1007/s10545-016-9989-y.
  • Skaistė Pečiulienė, Birutė Burnytė, Rymanta Gudaitienė, Skirmantė Rusonienė, Nijolė Drazdienė, Arūnas Liubšys, Algirdas Utkus, Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra. Pediatric Rheumatology (2016) 14:19. DOI 10.1186/s12969-016-0081-9.
  • Adriana M Montaño, Ngu Lock-Hock, Robert D Steiner, Brett H Graham, Marina Szlago, Robert Greenstein, Mercedes Pineda, Antonio Gonzalez-Meneses, Mahmut Çoker, Dennis Bartholomew, Mark S Sands, Raymond Wang, Roberto Giugliani, Alfons Macaya, Gregory Pastores, Anastasia K Ketko, Fatih Ezgü, Akemi Tanaka, Laila Arash, Michael Beck, Rena E Falk, Kaustuv Bhattacharya, José Franco, Klane K White, Grant A Mitchell, Loreta Cimbalistiene, Max Holtz, William S Sly, Clinical course of sly syndrome (mucopolysaccharidosis type VII). J Med Genet 2016;0:1–16. doi:10.1136/jmedgenet-2015-103322.
  • Haghighi, Z. Kavehmanesh, A. Haghighi, F. Salehzadeh, F. Santos-Simarro, L. Van Maldergem, L. Cimbalistiene, F. Collins, M. Chopra, S. Al-Sinani, S. Dastmalchian, D.C. de Silva, H. Bakhti, A. Garg and P. Hilbert, Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum. Clin Genet 2016: 89: 434–441.
  • Agnieszka Jurecka, Ekaterina Zakharova, Loreta Cimbalistienė, Nina Gusina, Anna Kulpanovich, Adam Golda, Violetta Opoka-Winiarska, Ewa Piotrowska, Elena Voskoboeva, Anna Tylki-Szymanska, Mucopolysaccharidosis Type VI: A Predominantly Cardiac Phenotype Associated With Homozygosity for p.R152W Mutation in the ARSB Gene. Am J Med Genet A. 2013 Jun;161(6):1291-9.
  • Jurecka, Agnieszka; Piotrowska, Ewa; Cimbalistienė, Loreta; et al., Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. MOLECULAR GENETICS AND METABOLISM Volume: 105 Issue: 2 Pages: 237-243 Published: FEB 2012.
  • Cimbalistiene L., Lehnert W., Huoponen K., Kučinskas V. First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis. JOURNAL OF APPLIED GENETICS, 2007, vol. 48, iss. 3, p. 277-280 ISSN 1234-1983.


 .