NL
DE
12 July 2017
This year ZonMw granted Erik de Vrieze an Off Road subsidy:
Erik de Vrieze, theme Sensory Disorders, aims to develop a new form of genetic therapy for patients with hereditary deafness. The therapy is designed for patients with a mutation in DFNA9, the most common mutation found in hereditary deafness in patients in the Netherlands and Belgium.
We have two copies of most genes: one paternally inherited, the other comes from the mother. Patient with a mutation in DFNA9 have mutation in only one of these copies. De Vrieze: “One normally functional copy of DFNA9 in principle would be sufficient for the generation of functional protein to prevent deafness. However, in this case, the protein translated from the mutated gene sticks to the normal protein rendering the normal protein unable to exert its function. Therefore, patient with only one mutated copy of DFNA9 still develop deafness.
There is currently no therapy for these patients. Erik de Vrieze aims to develop a therapy by making use of CRISPR-Cas technology. With this technique he can specifically block the mutated DFNA9 protein so it no longer sticks to the healthy protein.
Erik de Vrieze
Erik de Vrieze, theme Sensory Disorders, aims to develop a new form of genetic therapy for patients with hereditary deafness. The therapy is designed for patients with a mutation in DFNA9, the most common mutation found in hereditary deafness in patients in the Netherlands and Belgium.
This year ZonMw granted Erik de Vrieze an Off Road subsidy:
Erik de Vrieze, theme Sensory Disorders, aims to develop a new form of genetic therapy for patients with hereditary deafness. The therapy is designed for patients with a mutation in DFNA9, the most common mutation found in hereditary deafness in patients in the Netherlands and Belgium.
We have two copies of most genes: one paternally inherited, the other comes from the mother. Patient with a mutation in DFNA9 have mutation in only one of these copies. De Vrieze: “One normally functional copy of DFNA9 in principle would be sufficient for the generation of functional protein to prevent deafness. However, in this case, the protein translated from the mutated gene sticks to the normal protein rendering the normal protein unable to exert its function. Therefore, patient with only one mutated copy of DFNA9 still develop deafness.
There is currently no therapy for these patients. Erik de Vrieze aims to develop a therapy by making use of CRISPR-Cas technology. With this technique he can specifically block the mutated DFNA9 protein so it no longer sticks to the healthy protein.
Erik de Vrieze
-
Want to know more about these subjects? Click on the buttons below for more news.
Related news items
Dutch Research Agenda (NWA) WECOM grant from NWO for Martine Hoogman en Jeanette Mostert
5 July 2022 Martine Hoogman and Jeanette Mostert have obtained an NWA science communication grant (50k) for their ADHDplaza project. read more
Surprisingly dominant cause underlying type I congenital defect of glycosylation
21 October 2021 Alex Garanto, Melissa Bärenfänger, Mirian Janssen, and Dirk Lefeber published a new study, identifying a surprisingly dominant genetic cause underlying type I congenital defect of glycosylation with neuromusculoskeletal phenotypes. read more
Young Radboudumc researchers receive grant to engage in bio-medical and health research that is off the beaten path
16 September 2021 The ZonMw Off Road program is once again giving young scientists the opportunity to conduct innovative research in medical and/or health care. This research is off the beaten track and aims to bring about new insights and unexpected breakthroughs for healthcare and healthcare innovation. read more
