|Video of the Researcher|
Center for Proteomic and Genetics Research
The benefits of non-invasive prenatal testing
|Type of researcher|
|Introduce yourself, your experience and your credentials||
Hello, my name is Daphne Naidoo and I work at the Center for Proteomic and Genomic Research, also known as the CPGR. The CPGR is a nonprofit organization that provides advanced services to the life science and biotechnology communities in South Africa and Africa.
I started at the CPGR in 2019 as a bioinformatics intern and I was subsequently employed as a bioinformatics technician in March 2020. My background is strongly rooted in biology as I had completed my bachelor of science in cellular biology and genetics. I then after went on to complete my honours in genetics.
I believe that my background has played a pivotal role in my transition to bioinformatics as it helped me understand biological problems, being simple or complex, and the way in which those problems needed to be solved using mathematical, statistical, as well as computational tools.
|Describe your research||
One of the major projects that I work on at the CPGR is the non-invasive prenatal testing or NIPT. NIPT analyzes cell-free DNA in a pregnant woman’s blood to estimate the risk of fetal chromosome abnormalities. This project is a collaboration between the CPGR and the Lancet Laboratories.
Patient blood samples are received from the Lancet Laboratories and these samples are then used by the laboratory technicians at the CPGR to prepare the DNA for sequencing. Panorama is a non-invasive prenatal screening test that offers highly comprehensive and accurate screening for conditions such as trisomy 21, trisomy 18, trisomy 13, monosomy x, and triploidy.
More than two million woman in over 60 countries around the world have chosen Panorama. The reason for this could be that this test is completely harmless to the baby as it is non-invasive. Panorama uses unique snap based technology to deliver the most accurate NIPT on the market.
Panorama can be performed for singleton, twins, egg donor and surrogate pregnancies and this is the only test that is able to distinguish between maternal and fetal DNA, thus helping to avoid false positive and false negative results. Once the samples are ready for sequencing, sequence analysis is started by submitting a file containing the sample details on Constellation Portal.
Sequence analysis takes between three to five hours and Panorama starts automatically. Once panorama is complete, JSON files are generated for those samples that have passed sequence analysis. The JSON files containing the results of each sample is more from an entire server to Ameritech system in order to be resulted. Once all the samples in a run have been resulted these results are then submitted to a doctor.
|Explain its significance||
Bio-informatics has become an integral part in several areas of biology. In molecular biology, bioinformatics techniques is used to extract useful results from large amounts of raw data. In genetics and genomics, bioinformatics is used in sequencing and annotating genomes as well as to observe their mutations.
Bioinformatics techniques can be used to analyze and create a biological databases as well as to analyze gene expression and regulation. The field of bioinformatics is very rewarding as the past and present scope field increases as the need for medical science increases.
Center for Proteomic and Genetic Research
|Type of institution|
|Health care and social assistance|