We are excited to announce that we have been granted €500k from the EUROSTARS funding programme to implement our winning research proposal “DGSCREENING: A novel non-invasive prenatal screening tool for detection of Genetic Disorders powered by AI”. The project will start immediately and last for 24 months.
Thirty million people in Europe suffer from genetic disorders (GDs), resulting in significant psychological, health, societal and economic burden. Timely and accurate diagnosis of genetic disorders can significantly impact patient management and quality of life. Non-invasive prenatal screening test (NIPT) techniques exist in all European countries. However, currently available NIPT techniques are limited to a small number of chromosomal abnormalities, they are expensive – which restricts their use to the private sector -, do not offer patient data encryption, and are not harmonized, which leads to significant disparity and discrepancies across nations in terms of access and number of genetic disorders screened.
The solution we propose
The objective of our research is to develop a NIPT for 32 genetic disorders using long read Next Generation #Sequencing (NGS), artificial intelligence and blockchain. Our solution will improve detection capabilities through greater sensitivity and specificity, will screen a greater number of genetic disorders, will ensure the highest security and patient data encryption, and offer reduced costs, thus enabling greater access to prenatal screening by pregnant woman worldwide. All in all, our technology will enable families to make an informed decision about their pregnancy and initiate health management strategies at early stage of their child’s life.
The genetic disorders we will study
For this research project, we have chosen to study 32 genetic disorders with high heritability. These include the 8 most common aneuploidies, the 10 most common microdeletion syndromes (included in current NIPTs), the 3 diseases comprising the Basic Carrier Testing and the 11 most prevalent GDs in Europe, which are usually not screened pre-natally. See below in detail.
8 most common aneuploidies (currently screened with NIPT):
1.Edwards syndrome (18 trisomy)
2.Patau syndrome (13 trisomy)
3.Down syndrome (21 trisomy)
4.Klinefelter syndrome (XXY)
5.Turner syndrome (X0)
6.Trisomy 16 (increased risk of spontaneous miscarriage)
7.Trisomy 22 (increased risk of spontaneous miscarriage)
10 microdeletion syndromes:
1.Angelman syndrome (15q11) (microdeletion only)
2.Prader-Willi syndrome (15q11) (microdeletion only)
4.Cri du chat syndrome (5p)
5.Wolf-Hischhorn syndrome (4p16.3)
6.Jacobsen syndrome (11q23)
7.Langer-Giedian syndrome (8q24.1)
8.DiGeorge II syndrome (22q11.2)
10.Phelan-McDermid syndrome (22q13.3)
11 prevalent GDs
3.Middle chain acyl-CoA dehydrogenase deficiency
4.Very long chain acyl-CoA dehydrogenase deficiency
5.Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
6.Glutaracidemia type 1
8.Congenital adrenal hyperplacia
9.Sickle cell disease