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Student Researchers' Society Topics

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. SZABÓ, András

Nowadays, hearing loss affects approximately 70 million people worldwide and 50% to 60% of the cases are due to genetic factors. In case of hearing impairment with genetic background, we can differentiate hearing damages not associated with other hereditary conditions, so-called non-syndromic types (60-70%) from the syndromic types (30-40%) involving other organs. Mutations in the GJB2 and MARVEL2 genes and A636G, A827G, T961C, T1005C, T1116G, C1494T, A1555G, A3243G, 7472insC, A7443G, G7444A, A7445C, T7510C, T7511C, T7512C mutations which are responsible for the development of the mitochondrial originated hearing loss are most often associated genetic factors with the development of the disease. In the Department of Medical Genetics traditional DNA sequencing method is available for the investigation of hearing-related genes. Within the Student Researchers’ Society topic, it is possible for the students to examine the genetic background of the disease and to carry out the genotype-phenotype correlation analysis based on the results.

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.