PurinesDX research focuses on the most representative neurodegenerative (Alzheimer’s Disease, Huntington’s Disease and Amyotrophic Lateral Sclerosis (ALS)), neurological (Epilepsy) and psychiatric disorders (Schizophrenia and Depression).
Alzheimer’s disease is the most common form of dementia with over 45 million people suffering worldwide. It has a higher incidence in women and is characterized by intracellular neurofibrillary tangles and extracellular senile plaques, widespread neurodegeneration and gliosis. Alzheimer's disease leads to the progressive loss of cognitive and behavioral abilities, eventually resulting in death. Current diagnostic approaches are invasive and/or too expensive for the screening of a large population, consequently, the disease generally diagnosed too late for effective intervention. The treatment options available for Alzheimer's disease are only symptomatic and minimally effective.
Huntington’s disease is an autosomal dominant, progressive, fatal disorder affecting both men and women equally with an incidence of 5-8/100,000 in Europe: more than twice as high as in other parts of the world. A major unmet clinical need in Huntington's disease is the identification of biomarkers to predict the start of clinical symptoms and disease progression - critical for the determination of optimal treatment starting point and monitoring treatment success. Treatment remains symptomatic, targeting mainly behavioral aspects of the disease. Despite being a purely genetic disorder, gliosis and hyperexcitability have been proposed as causal, early patho-mechanisms.
Amytrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS), the most common motor neuron disease, is a progressive, neurodegenerative condition hallmarked by selective loss of function of motor neurons, causing paralysis and death. ALS has a frequency of 2-2.5/100,000 cases in western Europe, a higher prevalence in men with patients living 22-48 months following diagnosis. Treatment of ALS remains symptomatic with Riluzole the only available drug.
Epilepsy, characterized by recurrent unprovoked seizures, is the most common chronic neurological disease with a prevalence of 1-3%, affecting people of all ages. In Europe, ~6 million people suffer from epilepsy with gender-related differences depending on underlying aetiology. Neuroinflammation has been proposed as a major trigger of epileptogenesis. Anti-epileptic drugs are only symptomatic and ~30% of patients remain refractory. Correct diagnosis and prognosis remains a clinical challenge with long-term EEG, the only reliable method. The high cost, low-throughput and limited availability of this lead to the misdiagnosis of up to 42% of patients.
Schizophrenia is the most common psychiatric disorder requiring repeated periods of hospitalization over the patient’s life span. Prevalence of schizophrenia is 1–2% with a higher incidence in men. Patients may suffer from positive (for example, hallucinations), negative (for example, lack of motivation) and cognitive symptoms. Diagnosis and prognosis of schizophrenia remains challenging and current treatments may cause unwanted side effects and do not target all symptoms equally. Consequently, most patients remain permanently disabled, increasing the burden to the family and healthcare system
Depression, the most common mood disorder, has a higher incidence in women and is a major precursor to suicide. According to the WHO, it will be the leading cause of disability worldwide by 2020. Depression is characterized by a sustained, pathological shift in mood and emotionality, accompanied by other symptoms affecting motivation, sleep and appetite. Depression may result from plastic alterations in neuronal networks caused by the complex interaction between genes and environment. Current antidepressant treatment includes selective serotonin and mixed serotonin-norepinephrine reuptake inhibitors and tricyclic antidepressants; however, ~30% of patients remain refractory.