Agata Różycka | Neurogenetics | Best Researcher Award

Published on by Neuroscientists

Dr. Agata Różycka | Neurogenetics | Best Researcher Award

Dr. Agata Różycka, Poznan University of Medical Sciences, Poland.

Dr. Agata Różycka is a molecular neuroscientist and university lecturer at Poznan University of Medical Sciences, specializing in the molecular biology of neurodegeneration, epilepsy, and aging. With a robust academic background that combines molecular biology and pharmacy, she brings together clinical relevance and genetic insight. Her research delves into oxidative stress, genetic polymorphisms, and signal transduction in neurological diseases, with significant contributions to personalized medicine. She is also an accomplished educator, known for delivering high-quality instruction across medical and life science programs. Her scholarly work, published in respected journals and cited widely (h-index 15), continues to impact the fields of neurobiology and molecular diagnostics.

Profile

Orcid

 

🎓 Early Academic Pursuits

Dr. Agata Różycka’s journey in science began with a strong foundation in Molecular Biology and Pharmacy, having completed her MSc and PhD at Adam Mickiewicz University and the Poznan University of Medical Sciences in Poland. From early on, her academic interests were drawn to the molecular intricacies of the brain and human physiology. Her dual institutional training provided her with a broad yet profound grasp of pharmacogenomics, neurobiology, and genetic mechanisms underpinning disease processes. Her graduate years were marked by a passion for decoding the language of DNA and understanding the cellular responses to oxidative stress and genetic variation.

🧠 Professional Endeavors in Neuroscience

Currently a University Lecturer in the Department of Biochemistry and Molecular Biology at the Poznan University of Medical Sciences, Dr. Różycka has dedicated her career to unraveling the molecular foundations of neurological disorders, particularly neurodegeneration, epilepsy, and aging-related changes. Her teaching spans key courses in biochemistry, diagnostics, molecular biology, and laboratory techniques, and she has taught across diverse departments including medicine, nutrition, and biotechnology. Her lectures are known for clarity and depth, consistently earning high evaluations from students, a reflection of her commitment to excellence in scientific education.

🧬 Contributions and Research Focus

Dr. Różycka’s research is defined by its focus on the molecular and genetic mechanisms of neurodegeneration and neurological diseases. She has explored the role of oxidative stress, genetic polymorphisms, and signal transduction pathways in brain aging and epileptogenesis. Her expertise in SNP genotyping, DNA/RNA analysis, and genotoxicity assays has positioned her as a respected figure in the field. Her groundbreaking work on the expression of neuronal nicotinic acetylcholine receptors and the effects of memantine on oxidative DNA damage in aging brains, published in the International Journal of Molecular Sciences in 2025, exemplifies her translational approach to neurodegenerative research.

🧪 Innovation in Molecular Medicine

Beyond basic neuroscience, Dr. Różycka has contributed significantly to the personalized medicine landscape. Her investigations into COMT, MAO-A, and NET gene polymorphisms have improved our understanding of neuropsychiatric conditions like Parkinson’s disease and menopausal depression. Her 2021 study on serotonin polymorphisms and their relation to postoperative pain and nausea in the Journal of Personalized Medicine reflects her interdisciplinary reach, connecting genetics, neurobiology, and clinical practice to enhance patient outcomes.

📚 Academic Influence and Impact

With 682 citations and an h-index of 15, Dr. Różycka’s body of work has earned global recognition in the neuroscientific and biomedical communities. Her contributions are actively followed on platforms such as ORCID, ResearchGate, and Academia.edu, where her network of collaborators and readers continues to grow. Through these forums, she has shaped critical discourse in molecular neuroscience and neuropharmacology, helping researchers worldwide explore new diagnostic and therapeutic frontiers.

🏆 Recognition and Mentorship

Dr. Różycka’s academic excellence extends to mentorship and community engagement. As an educator, she has inspired many budding scientists, fostering critical thinking and hands-on skills in molecular lab techniques. Her reputation for nurturing scientific curiosity and rigor among students is matched by her ability to integrate cutting-edge research into the classroom. Her enduring impact is also evident in the numerous collaborations and citations her work has garnered, reflecting both peer appreciation and scholarly relevance.

🔬 Legacy and Future Contributions

Looking forward, Dr. Różycka aims to delve deeper into epigenetic mechanisms and neuroprotective strategies in aging brains. Her future projects include investigating novel therapeutic targets within cholinergic and serotonergic pathways, with the long-term vision of contributing to early intervention in age-related cognitive decline and epilepsy. As neuroscience continues to evolve, her legacy will be marked by a rare blend of precision science, passionate teaching, and a visionary approach to human health.

Publication

  • Title: Expression of Neuronal Nicotinic Acetylcholine Receptor and Early Oxidative DNA Damage in Aging Rat Brain—The Effects of Memantine
    Authors: Małgorzata Anna Lewandowska, Agata Różycka, Teresa Grzelak, Bartosz Kempisty, Paweł Piotr Jagodziński, Margarita Lianeri, Jolanta Dorszewska
    Year: 2025

 

  • Title: Relationship of Postoperative Pain and PONV after Minimally Invasive Surgery with the Serotonin Concentrations and Receptors’ Gene Polymorphisms
    Authors: Natalia Ignaszak-Kaus, Antoni J. Duleba, Aleksandra Mrozikiewicz, Grażyna Kurzawińska, Agata Różycka, Jan Hauke, Michał Gaca, Leszek Pawelczyk, Paweł Piotr Jagodziński, Piotr Jędrzejczak
    Year: 2021

 

  • Title: Importance of polymorphic variants of phosphatidylethanolamine N-methyltransferase (PEMT) gene in the etiology of intrauterine fetal death in the Polish population
    Authors: Agnieszka Seremak-Mrozikiewicz, Magdalena Barlik, Agata Różycka, Grażyna Kurzawińska, Andrzej Klejewski, Hubert Wolski, Krzysztof Drews
    Year: 2018

 

  • Title: The MAOA, COMT, MTHFR and ESR1 gene polymorphisms are associated with the risk of depression in menopausal women
    Authors: Not fully listed, but includes Agata Różycka (complete list available in source)
    Year: 2016

🔚 Conclusion

Dr. Agata Różycka stands out as a leading figure in the intersection of molecular neuroscience and clinical genetics, with a proven track record of impactful research and dedicated teaching. Her innovative studies on aging brains, gene polymorphisms, and neurotransmitter systems not only advance scientific understanding but also bridge the gap between molecular theory and patient care. With ongoing projects focused on epigenetic regulation and neuroprotective strategies, her work promises to shape the future of neurological health and personalized therapeutics.

 

 

Nikolaos Marinakis | Neurogenetics | Best Researcher Award

Published on by Neuroscientists

Dr. Nikolaos Marinakis | Neurogenetics | Best Researcher Award

Dr. Nikolaos Marinakis,  Laboratory of Medical Genetics, NKUA, Greece.

Dr. Nikolaos M. Marinakis is a highly accomplished Molecular Biologist and Geneticist whose career has been devoted to the diagnosis and molecular analysis of rare genetic disorders. With over a decade of laboratory experience and a strong academic background, he has steadily advanced from early bench research in molecular biology to become a Clinical Laboratory Geneticist and genome analyst. His expertise spans whole exome and whole genome sequencing, variant interpretation, CNV and RNA sequencing analysis, and the clinical application of Next Generation Sequencing. Notably, he has contributed to over 1500 molecular diagnoses in patients with rare diseases and has gained international recognition through the ESHG observership at Radboud University Medical Center. Dr. Marinakis exemplifies scientific excellence, clinical impact, and collaborative innovation in human genetics.

Profile

Google Scholar

 

🎓 Early Academic Pursuits

Dr. Nikolaos M. Marinakis embarked on his academic journey with a strong passion for understanding human biology at a molecular level. He earned his Bachelor’s degree in Molecular Biology and Genetics from the Democritus University of Thrace (DUTH), where he was actively involved in bench research. His undergraduate thesis focused on the functional characterization of NAT1 polymorphisms in the primate Macaca mulatta, offering an early glimpse into his interest in gene function and enzyme activity. This formative research cultivated his technical proficiency in cloning, site-directed mutagenesis, protein purification, and enzymatic assays—skills that would later become instrumental in his advanced academic and clinical endeavors.

🧬 Professional Endeavors in Genetics

Dr. Marinakis has spent more than a decade immersed in both research and clinical laboratories, gaining broad and deep expertise in molecular diagnostics. His professional foundation was laid at the Laboratory of Medical Genetics at St. Sophia’s Children Hospital, affiliated with the National and Kapodistrian University of Athens (NKUA). Here, he progressed from an MSc student to a PhD candidate and eventually to a Scientific Research Associate. His doctoral research was centered on the use of Next Generation Sequencing (NGS) technologies for diagnosing rare genetic disorders, and his project involved bioinformatic evaluation and functional validation of genomic variants. As a current genome analyst, he supervises Clinical Whole Exome Sequencing, routinely interpreting variants in over 1,500 complex diagnostic cases encompassing neurodevelopmental, nephrological, cardiovascular, and ophthalmological diseases.

🔍 Research Contributions and Focus

Dr. Marinakis’s primary research lies at the intersection of clinical genomics and bioinformatics. His scientific focus is on the molecular investigation of rare monogenic disorders, variant classification, and the integration of novel genomic technologies such as long-read sequencing into diagnostic pipelines. He has also contributed to the development and clinical implementation of molecular assays for both postnatal and prenatal diagnostics. His research continues to unravel the genetic underpinnings of syndromes with previously unknown etiologies, enriching the understanding of human genomic complexity. Through RNA sequencing and CNV analysis, he bridges the gap between genotype and phenotype in a clinical context.

🏅 Accolades and Recognition

In recognition of his significant contributions to human genetics, Dr. Marinakis was awarded a competitive observership by the European Society of Human Genetics (ESHG). This prestigious award enabled him to join the Genome Diagnostics unit at the Radboud University Medical Center in the Netherlands under the mentorship of Professor Christian Gilissen. There, he expanded his expertise in whole genome sequencing, variant annotation, structural variation, and advanced bioinformatic pipelines. His growing recognition as a Clinical Laboratory Geneticist (ErCLG-certified) further underscores his professional standing in Europe’s genetics community.

🧠 Impact on Clinical Genomics

Dr. Marinakis has made a measurable impact on translational medicine by bringing genomic science to the bedside. Through his analysis and interpretation of complex NGS datasets, he has helped diagnose hundreds of patients with elusive genetic conditions, directly improving clinical outcomes and enabling personalized treatment strategies. His ability to convert raw genomic data into meaningful clinical insights has made him a key figure in the field of diagnostic genetics in Greece and beyond. His meticulous approach to variant interpretation, especially in challenging or ambiguous cases, continues to guide clinicians in the decision-making process.

🌍 Influence and Collaboration

A committed collaborator and lifelong learner, Dr. Marinakis maintains strong academic and clinical ties with global institutions. His experiences at NKUA and Radboud UMC have equipped him with a broad international outlook on genomics and rare disease research. He actively contributes to cross-border initiatives and research consortiums focused on data sharing, standardization of bioinformatics pipelines, and discovery of novel disease mechanisms. His LinkedIn presence and professional engagement reflect his dedication to connecting with the wider genetics and biomedical community.

🔮 Legacy and Future Contributions

Looking ahead, Dr. Marinakis is poised to lead initiatives that integrate AI-driven genomic interpretation and third-generation sequencing into clinical practice. He aspires to contribute to national and European genomics strategies aimed at early diagnosis, carrier screening, and reproductive planning. By mentoring younger scientists and continuing to publish translational research, he is building a legacy rooted in both scientific rigor and compassionate care. With his strong foundation and forward-thinking vision, Dr. Marinakis represents a dynamic force in the future of precision medicine and rare disease diagnostics.

Publication

  • Title: Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders
    Authors: NM Marinakis, M Svingou, D Veltra, K Kekou, C Sofocleous, FN Tilemis, …
    Year: 2021

 

  • Title: Germline CNV detection through whole-exome sequencing (WES) data analysis enhances resolution of rare genetic diseases
    Authors: FN Tilemis, NM Marinakis, D Veltra, M Svingou, K Kekou, A Mitrakos, …
    Year: 2023

 

  • Title: Case report: a novel synonymous ARPC1B gene mutation causes a syndrome of combined immunodeficiency, asthma, and allergy with significant intrafamilial clinical heterogeneity
    Authors: I Papadatou, N Marinakis, E Botsa, M Tzanoudaki, M Kanariou, I Orfanou, …
    Year: 2021

 

  • Title: The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
    Authors: A Saffari, T Lau, H Tajsharghi, EG Karimiani, A Kariminejad, S Efthymiou, …
    Year: 2023

 

  • Title: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
    Authors: DE Layo-Carris, EE Lubin, AK Sangree, KJ Clark, EL Durham, …
    Year: 2024

 

  • Title: De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
    Authors: T Brunet, B Zott, V Lieftüchter, D Lenz, A Schmidt, P Peters, R Kopajtich, …
    Year: 2024

 

  • Title: SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation
    Authors: V Milionis, D Goutas, D Vlachodimitropoulos, AC Lazaris, I Kyriazis, …
    Year: 2021

 

  • Title: Towards a standard benchmark for variant and gene prioritisation algorithms: PhEval-Phenotypic inference Evaluation framework
    Authors: Y Bridges, V de Souza, KG Cortes, M Haendel, NL Harris, DR Korn, …
    Year: 2024

 

  • Title: Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
    Authors: V Salpietro, R Maroofian, MS Zaki, J Wangen, A Ciolfi, S Barresi, …
    Year: 2024

 

  • Title: Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms
    Authors: D Veltra, FN Tilemis, NM Marinakis, M Svingou, A Mitrakos, K Kosma, …
    Year: 2023

 

✅ Conclusion

Dr. Nikolaos M. Marinakis stands out as a distinguished researcher in the field of medical genetics and genomics. His work bridges cutting-edge molecular research with clinical diagnostics, making a direct impact on patient care and the understanding of rare diseases. His technical expertise, international collaborations, and growing leadership in genomic diagnostics reflect both his current achievements and his potential for future contributions to precision medicine. He is a strong candidate for recognition in any academic or professional forum honoring excellence in translational genomics and biomedical research.