Genetic Diagnosis

Neurodegeneration and Neurodegenerative Diseases

Neurodegeneration is defined as the damage and progressive death of nerve cells, known as neurons. The diseases that are caused by this process are termed neurodegenerative diseases (NDs). Alzheimer’s, Parkinson’s, Huntington’s diseases, ALS and hereditary ataxias, which are the most important representatives of NDs, are the most common causes of death after cardiovascular diseases, stroke and cancer in developed countries. Mechanisms and effective treatments of these diseases that show a chronic and progressive course are not well-defined yet. The only possible treatments so far are symptomatic; thus, NDs are among the most important disease groups in the focus of modern molecular medicine.

Although NDs are distinct in their clinical characteristics due to the selective death of neurons in different brain regions, they exhibit similiarities at the level of cellular mechanisms. In this context, understanding the underlying mechanisms in one disease will help to understand the mechanisms effective in other NDs.

The unraveling of disease mechanisms is expected to pave the ways for effective therapies. However, until recently, both clinicians and researchers, were not very optimistic regarding a mechanism-based treatment, let alone a cure for NDs. In recent years, this viewpoint has drastically changed, owing to advances in cell and developmental biology, realistic disease model systems and successful drug treatments. These recent advances in molecular genetics, high-throughput genomic research and rapidly improving cell biological methods have exponentially accelerated ND research.

NDAL, being the only reference center in Turkey specialized on NDs, builds on its experience in genetics and performs molecular diagnosis in several neurological disorders. The very rich repository on patient material, harboring the most prominent neurodegenerative disease samples, offers a huge potential for research.

Guidelines Paper
What’s new in Huntington’s disease research 2012
Prenatal Test Presents Dilemmas to Expectant Mothers