Western Australian Institute for Medical Research (WAIMR)


http://www.waimr.uwa.edu.au

Professor Luba Kalaydjieva

Luba Kalaydjieva

Phone: +61 8 9346 1946
Email: luba.kalaydjieva@waimr.uwa.edu.au

Professor Luba Kalaydjieva studied medicine in Bulgaria, graduating the Higher Medical Institute in 1971. She did her postgraduate studies in biochemical genetics in Russia, at the Moscow Institute of Paediatrics and Paediatric Surgery. Until 1992, she was Director of the Laboratory of Molecular Pathology and of the National Newborn Screening Program in Bulgaria. She has worked at the Institutes of Biological Chemistry and of Human Genetics at the Medical Faculty of the University of Münster in Germany, as a Fellow of the Alexander von Humboldt Foundation, and at the Department of Genetics of Stanford University School of Medicine, as a visiting scientist. In Australia, she has served as Co-Director of the Centre for Human Genetics at Edith Cowan University and, since 2002, as Professorial Fellow in Molecular Genetics at the Western Australian Institute for Medical Research.

Professor Kalaydjieva's research in the field of Mendelian genetics includes studies of the molecular basis and genetic epidemiology of major disorders relevant to Balkan populations. Since the early 1990s, her studies have focused on a previously ignored isolated founder population - the Roma/Gypsies, leading to the identification of unique novel genetic disorders and founder mutations, and the characterisation of population history and genetic structure. Her current research interests are related to genetic and clinical heterogeneity in neuropsychiatric disorders, namely temporal lobe epilepsy and schizophrenia.

Top 10 Publications

  1. Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D, King RH, Ishpekova B, Honeyman K, Calafell F, Shmarov A, Petrova J, Turnev I, Hristova A, Moskov M, Stancheva S, Petkova I, Bittles AH, Georgieva V, Middleton L, Thomas PK. 1996. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on 8q24. Nature Genetics 14(2):214-217. [NCBI PubMed Entry]
  2. Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RH, Thomas PK. 2000. N-myc downstream regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. American Journal of Human Genetics 67(1):47-58. [NCBI PubMed Entry]
  3. Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmuller H, Mullner-Eidenbock A, Merlini L, Neumann L, Burger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. 2003. Partial deficiency of the C-terminal domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nature Genetics 35(2):185-189. [NCBI PubMed Entry]
  4. Gresham D, Morar B, Underhill PA, Passarino G, Lin AA, Wise C, Angelicheva D, Calafell F, Oefner PJ, Shen P, Tournev I, de Pablo R, Kucinskas V, Perez-Lezaun A, Marushiakova E, Popov V, Kalaydjieva L. 2001. Origins and divergence of the Roma (Gypsies). American Journal of Human Genetics 69(6):1314-1331. [NCBI PubMed Entry]
  5. Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V, Schmidt C, Abicht A, Lochmüller H, Tordai A, Kalmár L, Nagy M, Karcagi V, Jeanpierre M, Herczegfalvi A, Beeson D, Viswanathan V, Carter KW, Reeve J, de Pablo R, Kuncinskas V, Kalaydjieva L. 2004. Mutation History of the Roma/Gypsies. American Journal of Human Genetics 75(4):596-609. [NCBI PubMed Entry]
  6. Kalaydjieva L, Morar B, Chaix R, Tang H. 2005. A newly discovered founder population: the Roma/Gypsies. BioEssays, 27(10):1084-1094. [NCBI PubMed Entry]
  7. Hallmayer JF, Kalaydjieva L, Badcock J, Dragovic M, Howell S, Michie PT, Rock D, Vile D, Williams R, Corder EH, Hollingsworth K, Jablensky A. 2005. Genetic evidence for a distinct subtype of schizophrenia characterized by pervasive cognitive deficit. American Journal of Human Genetics 77(3):468-476. [NCBI PubMed Entry]
  8. Mihaylova V, Hantke J, Sinigerska I, Cherninkova S, Raicheva M, Bouwer S, Tincheva R, Khuyomdziev D, Bertranpetit J, Chandler D, Angelicheva D, Kremensky I, Seeman P, Tournev I, Kalaydjieva L. 2007. Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation. Brain 130(Pt 4):1050-61.
    9. [NCBI PubMed Entry]
  9. Kalaydjieva L, Nikolova A, Turnev I, Petrova J, Hristova A, Ishpekova B, Petkova I, Shmarov A, Stancheva S, Middleton L, Merlini L, Trogu A, Muddle JR, King RH, Thomas PK. 1998. Hereditary motor and sensory neuropathy Lom, a novel demyelinating neuropathy associated with deafness in gypsies - clinical, electrophysiological and nerve biospy findings. Brain 121(Pt3):399-408. [NCBI PubMed Entry]
  10. Tournev I, Kalaydjieva L, Youl B, Ishpekova B, Guergueltcheva V, Kamenov O, Katzarova M, Kamenov Z, Raicheva-Terzieva M, King RH, Romanski K, Petkov R, Schmarov A, Dimitrova G, Popova N, Uzunova M, Milanov S, Petrova J, Petkov Y, Kolarov G, Aneva L, Radeva O, Thomas PK. 1999. Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations. Annals of Neurology 45(6):742-750. [NCBI PubMed Entry]