Honour: Bekim Sadikovic recognized among National Human Genome Research Institute's Top 10 of 2019
Research by Bekim Sadikovic, PhD, has been acknowledged by the National Human Genome Research Institute (NHGRI) as one of the 10 most significant advances in genomic medicine in 2019.
The Associate Professor of Pathology and Laboratory Medicine’s work focused on developing the EpiSign technology. His lab has created what is now the world’s largest database of epigenomic DNA “fingerprints” of hereditary genetic conditions – called EpiSigns – that allow for a more accurate diagnosis.
“I am extremely honoured and humbled by this recognition from NHGRI,” said Sadikovic. “Clinical Genomics is a rapidly evolving field with increasing impact on human health. This is certainly a huge vote of confidence for EpiSign technology on an international scale.”
A paper by Sadikovic and his collaborators, published in the American Journal of Human Genetics, was recognized on the NHGRI top 10 list.
The EpiSign technology will be expanded to a national clinical trial in 2020.
“Using machine learning algorithms derived from our EpiSign Knowledge Database, we are now able to accurately diagnose an expanding number of neurodevelopmental conditions, even when comprehensive genomic testing fails to provide answers,” said Sadikovic. “For patients and families affected with these conditions having an accurate genetic diagnosis means everything.”