Research Liesbeth Rooms

Abstract

CNV-WebStore is a software package that allows the annotation and storage of genomic copy number variation in an intuitive way. At present, we are using this program for the in house analysis of our CNV data, both in research and in a clinical setting. With this application, we aim to build in additional features in the program and also plan to professionalize the program in order to use it for commercial purposes.

Researcher(s)

• Promoter: Kooy Frank
• Co-promoter: Rooms Liesbeth

Research team(s)

Project type(s)

• Research Project

Abstract

We want to test the hypothesis whether the GABAergic system might be a target for treatment of fragile X syndrome. We will construct a genetic rescue mouse model to verify whether correction of deficient GABA synthesis rescues the fragile X phenotype in knockout mice. In addition, we will test novel gabaergic drugs in the fragile X knockout mouse.

Researcher(s)

• Promoter: Rooms Liesbeth

Research team(s)

Project type(s)

• Research Project

Abstract

We want to test the hypothesis whether the GABAergic system might be a target for treatment of fragile X syndrome. We will construct a genetic rescue mouse model to verify whether correction of deficient GABA synthesis rescues the fragile X phenotype in knockout mice.

Researcher(s)

• Promoter: Kooy Frank
• Fellow: Rooms Liesbeth

Research team(s)

Project type(s)

• Research Project

Abstract

Copy number vatiations are responsible for up to 20% of all mental retardation cases. Recently it has been postulated that these microdeletions might also be found in epilepsy patients. Therefore we want to test 30 epilepsy patients with mental retardation for the occurrence of microdeletions using Illumina Infinium SNP assays in this pilot project.

Researcher(s)

• Promoter: Rooms Liesbeth

Research team(s)

Project type(s)

• Research Project

Abstract

The aim of this project is to develop an automatic detection method to diagnose cytogenetically invisible chromosome abnormalities in patients with a mental handicap. In order to do so, we will use array-based MLPA (Multiplex Ligation-dependent probe Amplification). This will ultimately lead to an increased detection percentage in this group of patients, resulting in a better prognosis for the patients and an improved estimation of the recurrence risk in the family.

Researcher(s)

• Promoter: Kooy Frank
• Co-promoter: Rooms Liesbeth

Research team(s)

Project website

Project type(s)

• Research Project

Abstract

The aim of this study is to develop an array-based multiplex ligation-dependent amplification (MLPA) method to detect microdeletions and microduplications in the mentally handicapped. The test needs to be rapid and unequivocal. To archive our goal, we will use 4-MAT technology that will allow us to simultaneously detect all known interstitial and subtelomeric loci involved in mental retardation in a large number patient population.

Researcher(s)

• Promoter: Kooy Frank
• Fellow: Rooms Liesbeth

Research team(s)

Project type(s)

• Research Project

Abstract

Microdeletions and duplications are responsible for more than 10% of all mental retardation cases. Only a few of these aberrations result in a clinically recognizable phenotype. This implies that most patients need to be screened for all loci. Therefore we plan to develop array-based MLPA that allows the simultaneous testing for all loci on a large patient population.

Researcher(s)

• Promoter: Rooms Liesbeth

Research team(s)

Project type(s)

• Research Project