Age-related neurodegenerative disorders represent a considerable medical and economic challenge for the health care sector. However, drug development for neurodegenerative disorders is severely hampered by a lack of predictive test systems in the preclinical phase.
To address this need, the EUREKA-Eurostars initiative of the European Union approved a project grant to E-PHY-SCIENCE in Valbonne, France, CeGaT GmbH in Tübingen, Germany and the NMI at the University of Tübingen. The project aims at the development of novel drug test systems for Alzheimer’s disease. A new animal model, an in vitro test system and a new diagnostic test will be generated by combining an established genetic animal model for Alzheimer’s disease with another animal model for age-dependent mitochondrial impairment.
The partners expect a considerable improvement over current drug test systems for age-dependent neurodegeneration which will speed up the validation of novel treatments.
CeGaT now provides sequencing analysis of distinct gene sets (focus panels) for the genetic clarification of well-defined clinical diagnoses. Each new focus panel contains a specific selection of genes. The focus panel analysis therefore represents a cost effective alternative to the large diagnostic panels in cases with clear and characterized disorders. The genes of the respective focus panels are sequenced and interpreted in parallel which allows for fast processing times.
The new focus panels cover a variety of different genetic disorders across several medical fields and, for some disease classifications, they broaden the existing CeGaT large panel portfolio. For example, from now on mutations in genes associated with glucose metabolism may be analyzed, therefore providing a reliable MODY (Maturity Onset Diabetes of the Young) syndrome diagnostic test. Furthermore, CeGaT now substitutes the previous multi-stage Sanger diagnostic process for Hereditary haemorrhagic telangiectasia (HHT) or Afibrinogenemia/Dysfibrinogenemia with the faster, and more cost effective NGS based focus panel analysis.
CeGaT now provides focus panels for the following diseases:
Afibrinogenemia/Dysfibrinogenemia, Common variable immune deficiency, Tuberous sclerosis, Hereditary breast and ovarian cancer (small), Hereditary breast and ovarian cancer (large), Lynch syndrome, Hereditary hemorrhagic telangiectasia (HHT), Neurofibromatosis, Hyperekplexia, Holoprosencephaly, Refsum disease, Episodic ataxia, Dopa-responsive dystonia, Neuropathic pain syndromes, Malignant hyperthermia, Familial intrahepatic cholestasis, Maple syrup urine disease, Maturity onset diabetes of the young (MODY), Kabuki syndrome and Craniosynostoses.
We have updated our panel for epilepsy, metabolic, and brain development disorders, according to recent scientific findings. The update adds over 90 new genes to this panel. The gene sets for epilepsy and developmental delay (EPI02) and for macrocephaly (BRN04) benefit most from the changes and now comprise 97 and 55 genes, respectively. For the macrocephaly gene set, in particular, genes linked with macrocephaly-associated RASopathies have been included.
In addition to the extension of many gene sets, the following have been newly added:
– Coffin-Siris syndrome (BRN12)
– Maturity-onset diabetes of the young (MODY) (MET13)
– Fatty acid oxidation disorders (MET15)
The gene set for Joubert syndrome (BRN07) is no longer part of this panel, but offered as part of the panel for eye diseases (EYE07). Since the introduction of the first version of this diagnostic panel in May 2010, the number of investigated genes has increased twelvefold and now comprises 670 genes. We are pleased to have made important contributions to patient management and to inform clinicians on the appropriate treatment selection for thousands of patients. Through this latest update, we continue our large panel approach and enable an even greater likelihood of detecting causal variants.
The panel, which is now in the 8th version, is available immediately. Our diagnostics support team is available at +49 7071 565 44 55 or email@example.com.