Welcome Families and Caregivers
Our Research Team
Head Professor
Prof. Dr. Davor Lessel
I was born and raised in Zagreb, Croatia, were I completed the undergraduate education. After completing the studies at the Medical University Vienna, Austria, where I received the MD, I was trained as molecular and clinical geneticist at the University Hospitals in Barcelona (Spain), Zagreb (Croatia), Cologne/Köln, Ulm and Hamburg (Germany). In addition, I earned a PhD at the University of Split, where I have been a guest professor at the School of Medicine since 2015, and am board certified in Human Genetics. After leading a research group at the University Medical Center Hamburg-Eppendorf, where I shared the office with Prof. Kreienkamp, in 2023 I accepted the position of the full professor of Human Genetics and the head of the
head of the Institute of Human Genetics at the University Hospital Salzburg, Austria. My research focuses on identification and functional characterization of novel Mendelian syndromes, especially those characterized by signs of premature aging, neurodevelopmental delays as well as selected male, urogenital cancers. In the last years, I was involved in identification and functional characterization of more than 40 novel Mendelian disease genes. I am a principal investigator within many genetic consortia, have mentored many undergraduate and graduate students as well as young medical doctors. Together with Prof. Kreienkamp I have been studying selected neurodevelopmental delays associated with genes that have a role in RNA metabolism. Clearly, for several years now DHX30- associated neurodevelopmental disorders have become the primary focus of my research. Utilizing many different but mutually non-exclusive approaches, we jointly try to bring further understanding underlying the clinical spectrum and course of the disease along with deep molecular understanding of this disorder, with the ultimate goal to develop a targeted therapy.
Group Leader and Professor
Hans-Jürgen Kreienkamp
I am a group leader and Professor in the Department of Human Genetics of University Medical Center, Hamburg-Eppendorf. My research is focused on the functional analysis of gene variants causing inherited diseases of the nervous system, in particular neurodevelopmental disorders. Based in a Human Genetics department with a strong diagnostic setting, we often start from novel variants found in patients in our Institute, trying to understand pathogenicity of these variants, as well as their impact on the functions of encoded proteins. This includes several known disease genes coding for synaptic proteins (SHANK2,3, as well as CASK). In collaboration with the group of Davor Lessel, we were the first to describe several novel
diseaseentities, i.e. DHX30 associated disease (now termed neurodevelopmental disorder with motor impairments and absent speech, NEDMIAL), and a syndrome associated with variants in the gene encoding Argonaute-2 (now termed Lessel-Kreienkamp syndrome, LESKRES).
Medical Geneticist
Dr. Olena Ielesicheva
I am a medical geneticist from Ukraine with over 13 years of experience in the field of human genetics.
In 2006, I graduated from National Medical University in Kyiv, specializing in general medicine. Following my graduation, I specialized in emergency medicine in 2008, In 2011, I earned the title of Medical Geneticist after completing the specialization in human genetics. From 2012 to 2018, I have worked at the Kiev Regional Center for Prenatal Medicine, where I provided consultations to pregnant women with high risk of genetic pathology in the fetus, adults and children suspected of chromosomal abnormalities or gene syndromes. My main responsibility was to determine the need and scope of genetic research and provide
prognoses for individuals and their offspring. Since 2018, I have been working in the field of reproductive medicine, counseling infertile couples, women with a burdened obstetric-gynecological history, such as a recurrent miscarriage, individuals with genetic pathologies, couples with family history of genetic disorders. I provide guidance on embryo examination results (PGT-A and PGT-M) as a part of the IVF cycle program and counsel couples with a burdened hereditary history who are planning to have healthy off spring. In March 2022, I have relocated to Austria, where I currently reside and work. Since January 2023, I have been working as a scientific employee of the university institute for human genetics in the Salzburg Clinical Hospital in the team led by Professor Davor Lessel. One of our research directions is focused on studying the syndrome associated with mutations in the DHX30 gene. My primary tasks involve collecting clinical data from affected patients and analyzing all the gathered information as part of our “Family-based Natural History Study” program. This will help us a better and more thorough understanding of this syndrome, enabling us to propose therapeutic options and observation tactics for such patients.
PhD Student
Ms. Elena Nedelcu
I graduated from the University of Urbino (Italy) with a bachelor's degree in Biotechnology. This is where I started my research career, working for two years on an experimental thesis in molecular biology. I subsequently obtained a Master's degree in Biomedical Sciences and did my experimental Master's thesis in Germany at the DZNE (German Centre for Neurodegenerative Diseases) research centre in Bonn. Through these research experiences, I became interested in how genetic factors influence the onset of neurodevelopment, which is why I decided to pursue a PhD. In the year 2022 I have been accepted as a PhD student by Prof. Lessel. My research topic concerns DHX30 and its potential novel functional roles in
cellular metabolism. One of the aims of my research is the understanding of the role of DHX30 in R-loop metabolism. While the direct link between R-loops and neurodevelopmental disorders is still an area of active research, emerging evidence suggests that dysregulation of R-loops may indeed play a role. R-loops have been implicated in several cellular processes, including the regulation of gene expression and the DNA damage response, which are critical for proper neurodevelopment. Dysfunction in these processes has been linked to neurodevelopmental disorders such as autism spectrum disorders and intellectual disability. Therefore, the study of R-loops could provide valuable insights into the molecular mechanisms underlying these disorders and potentially lead to the development of targeted therapies.
PhD Student
Dr. Sarada Das
I did my undergraduate and graduate studies in India, from 2011 to 2016. My under graduation is Bachelors in Science, Honors Plant biology from Hindu college, Delhi University and I have graduated with Masters in Science in Biotechnology specializing in Stem Cell biology and Biochemistry. I started my journey in research during my graduation, where I assisted experimentally in several scientific projects broadly in the field of molecular biology and stem cell biology in my University after which I pursued my Master thesis in RNA biology on yeast model system in the topic of cellular homeostasis at the Institute of Genomics and Integrative Biology, Delhi. My journey in research continued as I got a
chance to continue my Master thesis work in the same field as a Research Assistant. After I finished this project, I came to Hamburg, Germany for my Ph.D. in the year 2018 and stepped into my next research focus in the field of RNA-protein interactions in context of Protein Translation and Cellular Stress mechanisms in amammalian cell system. My work focused on molecular mechanisms during oxidative stress condition, which can be one of the most common phenomena causing cell and tissue damage in human health. Further, I also worked in a collaborative project towards understanding mechanisms of Charcot-Marie-Tooth peripheral neuropathy condition, during which my expertise in RNA-protein interaction helped me to shape and publish an independent experimental protocol for the project. From here on, I wished to expand my scientific landscape, with my gathered molecular biology research expertise, prioritizing Diseases for Research. In 2022, I started working in the DHX30 project at UKE, Hamburg with Hans-Jürgen and Davor. My research goal is to understand the functional role of DHX30 in neurology which would potentiate ourtherapeutic understanding towards the rare disease caused by DHX30 mutation.
PhD Student
Johannes Lederbauer,
My scientific interest began in the last year of high school when I first encountered the world of DNA,
genetics, and biochemistry. From there, my journey led me from the countryside of Austria to Vienna, where I started a Bachelor's in molecular biotechnology and continued with a more science-oriented Master's focused on molecular medicine. During this time, I found myself more and more attracted to the fascinating topics of RNA biology and cancer genetics. Nevertheless, I pursued my studies with the aim of contributing to helping others. After completing my studies, I applied for several projects all over Europe and ended up in the team of Professor Lessel. My project deals with the role of DHX30 in assembly of stress granules. Thus, I´m characterizing the dynamics of stress granules (SGs), intracellular RNA and protein interactomes that help cells withstand various stresses.
