Another partner in the DevelopAKUre consortium is the Laboratory of Genetics that originally belonged to the Institute of Molecular Physiology and Genetics of Slovak Academy of Sciences (SAV). In May 2015 this group moved to the Center for Molecular Medicine of SAS (MMC SAV), in Bratislava, Slovakia.
Their team consists of the group leader Prof. Ludevit Kadasi, postdocs Dr. Jan Radvanszky, Dr. Andrea Soltysova, Dr. Martina Nemethova, technician Ildiko Szomolayova and senior postdoc Dr. Andrea Zatkova, who is also the scientist for the DevelopAKUre project. In this week’s blog they tell us about their role. Our laboratory was established in 1986, and is the first genetic laboratory in Slovakia.
Subjects in our studies have several common but also rare genetic diseases. We usually try to discover genes and their changes (mutations) that cause them. We study different possible applications of our findings in clinical and counselling practice. This is also our main role in DevelopAKUre – we study patients to try to identify DNA changes within the HGD gene, which codes for the enzyme HGD disrupted in Alkaptonuria.
How do we function in our laboratory? Prof. Ludevit is usually the first point of contact in the lab. He is mainly coordinating all projects run in the Laboratory and is also involved in teaching human genetics and human molecular genetics at the Faculty of Natural Sciences, with which we collaborate. The whole team are involved in students’ teaching and training process.
The main topics of research by Dr. Jan are connected to different aspects of molecular genetics of myotonic dystrophy. His aim is also to implement novel techniques called massive parallel sequencing into the clinical practice in Slovakia. Dr. Andrea S. focuses on the use of genomic approaches in the study of human genetic disorders and for so-called personalized medicine.
We are also involved in analyzing DNA samples from AKU patients. The HGD gene was mapped and characterized in 1994-1996, so now the search for the genetic changes is based on the known gene structure. First of all the DNA samples are prepared by a special laboratory protocol from the peripheral blood of the patients.
This is the role of Ildiko. Dr. Martina performs DNA sequencing, including the amplification of the gene of interest and all analytical steps. Dr. Andrea Z. has been involved in studying the genetic bases of Alkaptonuria and the reasons of its increased incidence in Slovakia since 1998. Her role, in addition to administration of the project, is to control and interpret all the results of their analysis and relate this to findings regarding AKU found in the literature.
She is also responsible for curating the HGD gene mutation database that was created in 2010. This database includes information on all genetic changes identified within the HGD gene. All new mutations that we or other laboratories discover in AKU patients are deposited there, of course on anonymous basis. Why do we study mutations? One of the aims of SONIA2 is also to discover possible correlations between different types of genetic changes and the severity of AKU. In the SONIA2 patients analysed within the frame of the project, we will compare different clinical and biochemical values to the type of mutations they carry.
We will also look at the effectiveness of the therapy in the groups of patients carrying the different mutation. This might have an implication for the future therapy protocols. We are happy that we can contribute to the better understanding of the natural history of AKU and thus impact indirectly on the lives of people with this disease, that are so numerous in our country.
DevelopAKUre is a series of major international clinical trials, run by a consortium of 12 European partners. It aims to study a potential new drug, called nitisinone, and assess its potential effectiveness in treating the rare disease, alkaptonuria (AKU).
DevelopAKUre is co-funded by a grant from the European Commission. This website is run by a UK patient group, the AKU Society. Learn more about AKU on the AKU Society's What is AKU page.
In today’s blog Chief investigator Prof. Ranganath reinforces the need for SONIA 2 pat.. ...more