November 2021: Shomron identifies a new mutation in a rare genetic disease
Prof. Noam Shomron, Edmond J. Safra member (Medicine), identified a new mutation in a rare genetic disease.
Prof. Noam Shomron, Edmond J. Safra member (Medicine), and Prof. Lina Basel, head of the Institute of Genetics at Beilinson Hospital and Schneider Children’s Medical Center, have identified a new mutation in a known gene that is involved in a rare genetic disease leading to severe phenotypes. By using computational analysis Prof. Shomron and his team were able to narrow the change in the DNA to one nucleotide that alters the protein structure.
This research was initiated by Merav Klo, whose daughter suffers from this rare genetic syndrome. Their story was featured in the Israeli newspaper Haaretz. Prof. Shomron says that the young patient may benefit from this discovery if it leads to identifying the potential cause, and then potential therapy can be sought.
Read more here.