NERVLAB are dedicated to unraveling the complexities of neurodegenerative diseases through innovative and inquisitive research.

With a focus on Motor Neuron Disease (MND), we are developing novel tools, cutting-edge technologies, and custom data science solutions tailored for big biological data. Our multidisciplinary approach allows us to explore the intricate mechanisms underlying disease, with a particular emphasis on understanding protein aggregation, the role of expressed Human Endogenous RetroViruses (HERVs), and how the complex interaction of these phenomenon contribute to the broader landscape of neurodegeneration. Through our efforts, we hope to pave the way for new diagnostic and therapeutic strategies to combat these devastating disorders.

Neurodegenerative Disease

Neurodegenerative diseases are a group of disorders characterized by progressive degeneration of nerve cells, leading to cognitive decline, motor dysfunction, and ultimately, loss of independence. Clinical signs and symptoms vary depending on the specific disease but commonly include muscle weakness, tremors, impaired coordination, and cognitive impairment. These diseases can be sporadic, occurring without a clear family history, or familial, inherited through genetic mutations. Despite significant advances in understanding the molecular mechanisms underlying these disorders, there is currently no cure.

Motor Neuron Disease (MND), also known as Amyotrophic Lateral Sclerosis (ALS) or Lou Gehrig’s disease, is a neurodegenerative disorder that affects motor neurons in the brain and spinal cord.Sporadic MND accounts for the majority (~90%) of cases, while familial MND is associated with mutations in the genes encoding C9orf72, SOD1, TARDBP, FUS and more. One of the unifying molecular characteristics is the accumulation of protein aggregates.

Protein Aggregation

Proteins are essential molecules that perform a wide range of functions in the body, including providing structural support, facilitating chemical reactions, and transmitting signals within cells. Proper folding of proteins is crucial for their normal function. Protein aggregation occurs when misfolded proteins fail to adopt their native structure and instead assemble into insoluble aggregates. In neurodegenerative diseases like MND, protein aggregation is believed to play a significant role in disease pathogenesis.

Human Endogenous Retroviruses (HERVs)

Human Endogenous Retroviruses (HERVs) are remnants of ancient retroviral infections that have become integrated into the human genome over millions of years of evolution. Although most HERVs have lost their ability to replicate, they still retain sequences resembling those of their ancestors. HERVs have been implicated in a variety of physiological and pathological processes, serving as regulators of gene expression, promoters of genetic diversity, and potential triggers of autoimmune and neurodegenerative diseases.

In the context of neurodegenerative diseases like Motor Neuron Disease (MND), HERVs have garnered significant interest due to their potential involvement in disease pathogenesis. Studies have shown that HERV expression levels are altered in MND patients and clinical trials exploring the efficacy of antiretroviral drugs, which target the activity of HERVs, have shown promising results in MND. However, the precise mechanisms by which HERVs contribute to pathogenesis and the effect on protein aggregation of targeting HERVs require further investigation. This is where the NERVLAB comes in!