2nd Dept of Paediatrics, SOTE, Budapest, 2021
The Robert Burns International Foundation has donated equipment to the 2nd Department of Paediatrics at Semmelweis University in Tűzoltó utca every year since the roots of the Foundation were laid in 1998.
Following in his late father’s footsteps, Professor Dr. György Fekete led the 2nd Department until his semi-retirement in 2009. Author of 118 paediatric publications with 1034 citations, we are proud that he continues to advise the Foundation each year on deserving causes for the support of sick and underprivileged children around Hungary. In such capacities, he has long been recognised as one of the country’s unsung heroes for sick children. The Foundation is lucky to continue to be advised by a man of such professional international standing and integrity.
In 2021 the 2nd Department of Paediatrics requested the help of the RBIF to buy a Biometra TAdvanced gradient PCR machine. This device is what is known as a thermal cycler, a piece of laboratory equipment most commonly used to amplify segments of DNA via polymerase chain reaction(PCR). Thermal cyclers may also be used in laboratories to facilitate other temperature-sensitive reactions, including restriction enzyme digestion or rapid diagnostics. The device has a thermal block with holes where tubes holding the reaction mixtures can be inserted. The cycler then raises and lowers the temperature of the block in discrete, pre-programmed steps.
According to Professor Fekete:
We currently have set up the device to detect copy number variation (CNV) characteristic for Di-George Syndrome.
The symptoms here can vary, often including congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate.
We have successfully applied the CNV detection assay for Di-George Syndrome for more than 25 patient samples, and we currently plan to do 20 samples/month for this assay. Furthermore, by February 2022 we plan to set methylation-sensitive assays for imprinting-related genetic disorders.