Pavlina Capkova | Cytogenomics | Women Researcher Award

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Dr . Pavlina Capkova | Cytogenomics | Women Researcher Award 

Head of the laboratory of cytogenomics , University Hospital/Palacky University Olomouc , Czech Republic

RNDr. Pavlína Čapková, PhD., is a distinguished Czech medical geneticist, specializing in prenatal cytogenetics and DNA analysis. With over two decades of experience, she has made significant contributions to the understanding of genetic factors influencing congenital conditions and short stature. Dr. Čapková is currently affiliated with the University Hospital Olomouc and Palacky University, where she leads a research team and supervises students in medical genetics.

Profile

ORCiD

Education 

Dr. Čapková completed her M.Sc. in Biology from Palacky University in Olomouc (1989) and received national certification in “Methods in Medical Genetics” (1999). She earned her PhD in Medical Genetics in 2005, with a thesis focused on the integration of DNA analysis and cytogenetic diagnosis. Dr. Čapková also undertook specialized training in cytogenetics, including a fellowship at Erasmus University Rotterdam.

Experience 

Since 1997, Dr. Čapková has worked at the Department of Medical Genetics at University Hospital Olomouc. She has held positions as a quality manager and assistant professor at Palacky University’s Faculty of Medicine. Her responsibilities include managing a prenatal cytogenetic laboratory and supervising both diploma and PhD students. From 2015 to 2018, she served as the Deputy Head of the Department of Medical Genetics.

Research Interests 

Dr. Čapková’s research focuses on prenatal cytogenetics, particularly the genetic causes of short stature and congenital skeletal abnormalities. She has led multiple research projects, investigating key genes like SHOX, and exploring the genetic diagnostics of congenital heart defects. Her work aims to deepen the understanding of genetic disorders and their early detection.

Awards 

Throughout her career, Dr. Čapková has been recognized for her contributions to medical genetics. She has played a leading role in research subprojects funded by the Czech Ministry of Health. Her dedication to advancing genetic diagnostics has garnered respect within the scientific community.

Publications 

  • Zuzana Spurná et al. Clinical impact of variants in non-coding regions of SHOX – Gene, Volume 818, 2022, Link.
    Cited by 5 articles.
  • Spurná Z, Čapková P, et al. Clinical-genetic analysis of selected genes involved in congenital skeletal abnormalities – Gene, 2024, Link.
    Cited by 3 articles.
  • Capkova Z, Capkova P, et al. Duplication of 9p24.3 in three unrelated patients – Mol Genet Genomic Med, 2021, Link.
    Cited by 10 articles.
  • Capkova P, et al. Short stature and SHOX variants-efficacy of screening using various strategies – PeerJ, 2020, Link.
    Cited by 7 articles.
  • Capkova P, et al. Differences in the importance of microcephaly, dysmorphism, and epilepsy – PeerJ, 2019, Link.
    Cited by 12 articles.
  • Capkova P, et al. MLPA as a practical alternative for autism spectrum disorders diagnostic – PeerJ, 2019, Link.
    Cited by 15 articles.

Conclusion

Dr. Pavlína Čapková is a highly accomplished researcher with a well-established career in medical genetics. Her leadership in significant research projects, contribution to academia, and international exposure make her a strong candidate for the Research for Women Researcher Award. With her dedication to advancing genetic research, particularly in congenital conditions, and her role in education, she exemplifies the qualities of an outstanding woman researcher. Expanding her research outreach and collaboration could further strengthen her candidacy for this prestigious award.

Thomas Liehr | Human Genetics | Best Researcher Award

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Prof Dr . Thomas Liehr | Human Genetics | Best Researcher Award 

Mr. Institute of Human Genetics at the University Hospital Jena , Germany

Prof. Dr. Thomas Liehr is a distinguished cytogeneticist with over three decades of experience. Since 1991, he has led the molecular cytogenetic group at the Institute of Human Genetics, University Hospital Jena, Germany. His pioneering work in the development and application of multicolor-FISH probes has significantly advanced the characterization of both constitutional and acquired derivative chromosomes. With over 870 research papers, 120 book chapters, and 20 books, Prof. Liehr has made substantial contributions to the field of cytogenetics. His expertise is recognized globally, having received multiple awards and two invited professorships.

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Scopus

Strengths for the Award

  1. Extensive Research Output: Thomas Liehr has an impressive research portfolio with over 870 referred papers, more than 900 abstracts, and contributions to 20 books and 120 book chapters. His work is widely recognized in the field of molecular cytogenetics, clinical genetics, and tumor cytogenetics, making him a leading figure in his domain.
  2. H-Index and Citation Impact: With an H-Index of 59, his research has made a significant impact in the scientific community. This high citation index indicates that his work is not only prolific but also highly influential.
  3. Innovation in Molecular Cytogenetics: Liehr has pioneered the development and application of multicolor-FISH probe sets, which are essential tools for characterizing constitutional and acquired derivative chromosomes. His innovative approaches have advanced understanding in previously understudied areas, such as euchromatic regions and satellite-DNA amplification in tumors.
  4. Recognition and Awards: He has received multiple awards and holds two invited professorships, underscoring his recognition as a leading expert in his field. His contributions have also earned him various editorial appointments in scientific journals, further validating his expertise.
  5. Collaborations and Professional Memberships: His extensive network of collaborations and professional memberships reflects his active engagement and leadership in the scientific community, both nationally and internationally.

Areas of Improvement

  1. Broader Application of Research: While Thomas Liehr’s research is highly specialized and innovative, expanding his work’s practical applications could further enhance its impact. For instance, exploring the clinical implementation of his findings in routine diagnostics or therapeutic strategies might bridge the gap between research and clinical practice.
  2. Patent Activity: Although he has five patents to his name, these were all published between 2001 and 2006. Renewing his focus on patentable innovations, particularly with recent advancements, could bolster his contributions to translational research and industry collaboration.
  3. Outreach and Science Communication: Engaging more with public science communication and outreach could amplify the societal impact of his work. This could include simplifying complex research findings for broader audiences, including patients and non-specialists, thus raising awareness and understanding of his research contributions.

    Education 

    Prof. Dr. Thomas Liehr earned his “Dr. rer. nat.” in genetics, followed by his “med. habil.” and honorary doctorate (h.c.) from Yerevan State University (YSU). His academic journey is marked by a deep commitment to advancing the understanding of cytogenetics, evidenced by his extensive research, teaching, and contributions to various scientific publications.

    Experience 

    Prof. Liehr’s professional career is rooted in his role as the head of the molecular cytogenetic group at the Institute of Human Genetics, University Hospital Jena. His research has focused on the innovative use of multicolor-FISH probe sets, leading to the successful identification of chromosomal abnormalities in various genetic disorders. Beyond research, he is actively involved in teaching and has published extensively, with his work influencing both clinical and academic settings globally.

    Research Interests 

    Prof. Liehr’s research interests are centered on molecular cytogenetics, with a particular focus on clinical genetics, tumor cytogenetics, and chromosomal evolution. He has made groundbreaking discoveries in the study of small supernumerary marker chromosomes and satellite-DNA amplification in cancers, particularly in advanced prostate and breast cancers, positioning his work at the forefront of genetic research.

    Awards 

    Throughout his illustrious career, Prof. Liehr has received multiple prestigious awards, recognizing his contributions to cytogenetics. His accolades include invited professorships and numerous research awards, highlighting his role as a leading figure in the field. His work has not only advanced scientific knowledge but also earned him a respected place in the global scientific community.

    Publications 

    Prof. Liehr has an extensive publication record with over 870 research papers in various prestigious journals. Here are some of his notable publications:

    1. Multicolor-FISH probe sets for identifying chromosomal abnormalities – Journal of Molecular Cytogenetics, 2008. Cited by 120 articles.
    2. Euchromatic regions and copy number variations – Clinical Genetics Journal, 2012. Cited by 80 articles.
    3. Satellite-DNA amplification in prostate cancer – Tumor Biology, 2015. Cited by 100 articles.

    Conclusion

    Prof. Dr. Thomas Liehr is a highly qualified candidate for the Best Researcher Award, given his extensive contributions to the field of molecular cytogenetics and clinical genetics. His innovative research, significant publication record, and impact on the scientific community are compelling strengths. To further strengthen his candidacy, an emphasis on broadening the practical applications of his research, revitalizing patent activities, and enhancing public outreach could be considered. Overall, his achievements and ongoing work make him a deserving nominee for this prestigious recognition.