Student Researchers' Society Topics

Co-supervisor: Dr. SZALAI, Renáta

Co-supervisor: Dr. SZABÓ, András

In order to diagnose diseases with a diverse genetic background as accurately and quickly as possible and to expand information on the diseases, it is essential to carry out the most accurate prenatal clinical investigations possible. Comparison of the results of prenatal clinical investigations and postnatal molecular genetic/genomic and cytogenetic tests is of great importance for disease-related genotype-phenotype correlation studies. Students would have the opportunity to participate in diagnostic work, from patient testing, through genetic laboratory work to the evaluation of results obtained with genetic diagnostic methods.

Application of FISH compared to traditional banding techniques allows detecting deletions with 3-5 Mb (megabase) in size. Since the application of the method, so-called microdeletion syndromes became known, which are deletion of neighbouring genes on a chromosome (contacting genes syndrome). The affected people have “similar” phenotypic features because of the really similar deletion. The most known microdeletion syndromes are Prader-Willi, Angelman, Williams, Smith-Magenis syndrome and the DiGeorge syndrome. Henceforth diagnosis of many other similar diseases is taking place regularly in the laboratory of our institute.

Co-supervisor: Dr. TILL, Ágnes

Intellectual disability is one of the most common developmental disorder characterized by significant limitations in intellectual functioning and in adaptive behavior, as expressed in conceptual, social and practical adaptive skills. It is important to know the underlying genetic causes of the disease, thereby enabling to understand the pathology of the disease and to predict its prognosis. New generation techniques (whole exome sequencing, whole genome sequencing) bring science closer to understanding and recognizing the underlying causes of the diseases. During the work using these techniques we would evaluate the different molecular genetic alterations and compare them with the symptomatology and case history of the patients.

Co-supervisor: Dr. HADZSIEV, Kinga

Co-supervisor: Dr. MAGRATH, Heléna

Infant muscular hypotonia is one of the more frequent referrals we come across at our Developmental Neurology Specialty Clinic. Telling apart central from peripheral hypotonia by meticulous anamnesis and thorough physical exam is usually the easy part. When it comes to the precise diagnosis, though, conventional blood tests, imaging and electrophysiological exams commonly fail and a molecular genetic test is warranted.

Therapeutic interventions are available for a handful of rare diseases which make early diagnosis ever so important.

Apart from learning to process clinical data of our patients diagnosed with muscular hypotonia, the students’ would get a hands-on experience of working in paediatric neurology as well as in molecular genetic diagnostics.

The male sterility is an important public health issue in our days, it affects a great volume of those men who are reproductive, and it grows. Both genetic and environmental factors contribute to the development.

One possible cause of male sterility is the microdeletion of the AZF (Azoospermia factor) region, located on the long arm of the Y chromosome, which leads to oligozoospermia and azoospermia. We examine the a, b, and c regions of the azoospermia factor as a part of the diagnosis with molecular genetic method (multiplex PCR).

Our aim to reveal one of the possible reason of the sterility connected to oligozoospermia and azoospermia. Besides we apply this method as supplement to define the genotype of a children with uncertain external genitals.

Co-supervisor: Dr. CZAKÓ, Márta

We gathered a lot of information about brain development as a result of the technical advancement of pre- and postnatal ultrasound, and MR examinations as well in the last decades. Besides this the knowledge about the genetic mechanisms and the regulating genes, gene networks of brain development raised as a result of the advancement of molecular genetic techniques.

The genetic alterations behind developmental disorders are heterogeneous, they can be monogenic faults, or copy number variations (CNVs).

When examining patients with intellectual disability and dysmorphia, we detected CNVs affecting brain development in several patients with aCGH, in our institute since 2013.

During the work, the patients’ genotype-phenotype correlation will be examined thoroughly.

Sclerosis tuberosa is a multisystemic disorder with an incidence of 1:6000-1:9000. The disease has autosomal dominant heredity, although it appears as a new mutation in most of the patients. Mutations in the genes TSC1 and TSC2 cause the disease. The examination of the 2 genes in Hungary are only available in our institute.

During the work, we would examine the symptomatology and case history of the patients and analyze the family anamnesis in correspondence with the detected mutation.

The symptoms of Dravet syndrome, also known as febrile seizure+ syndrome (GEFS+) shows a broad spectrum, thus the beginning of the disease can differ as well. The genetic background of this is disease associated with mutations in the SCN1A gene, which we can analyze in the institution in the last several years. During the work, we would evaluate the different molecular genetic alterations and compare them with the symptomatology and case history of the patients.

Our institute is involved in mitochondrial DNA diagnostics and research of mitochondrial DNA alterations in rare diseases since 1999. Mitochondrial diseases comprise a group of rare diseases with a very broad phenotypic presentation, including diseases with variable progression and with both childhood- and adult-onset presentation. The common mechanism underlying this disease group is a deficiency of energy-pathways either encoded by the mitochondrial DNA or the nuclear DNA. In recent years our department has been investigating the phenotypic and genotypic variability of MELAS-syndrome, the molecular background of Leigh-disease and the genetic elucidation of maternally inherited deafness. Our biobank of mitochondrial diseases comprising more than 400 samples is an excellent source for the study of phenotype-and genotype variability in mitochondrial diseases. We primarily aim to attract students with a clinical focus also interested in the laboratory background behind diseases.