Tackling Research Challenges of Neurodegenerative Diseases

Neurodegenerative diseases are on the rise. Genetic analysis may transform the way we detect, treat and prevent these conditions.

As the world population grows and people are living longer, complex conditions such as neurodegenerative diseases are becoming more prevalent. In fact, a 2019 study from the Global Burden of Disease predicted that the number of people with dementia will triple by 2050.

This leaves many scientists asking, what if neurodegeneration could be examined in ways that would better inform our understanding of these diseases?

Thankfully, recent advances have transformed the way we detect, treat and prevent neurodegenerative disease. Researchers today can study the underlying biology and genetics of disease, while developing better diagnostics and more targeted therapies in parallel.

The research does come with inherent challenges, however. Neurodegenerative diseases often present differently in each patient, with varying degrees of onset, severity and progression, making them challenging to study. From environmental factors to genetic susceptibility, researchers across disciplines have joined forces to create a toolbox for investigating and treating neurodegeneration that includes identifying genetic drivers of disease, developing sensitive biomarkers and designing safe, efficacious therapies.

The technology for the neuroscientist’s toolbox

Genetic scientists and clinical researchers are leveraging molecular biology approaches, such as polymerase chain reaction (PCR), and next generation sequencing (NGS) to identify genes or changes in an individual’s genetic makeup that underlie common neurodegenerative conditions such as Alzheimer’s disease, Parkinson’s disease and amyotrophic lateral sclerosis (ALS). And technological advances are accelerating the discovery and understanding of early diagnostic markers that may predict disease prior to symptom onset, which is crucial for more personalized treatment strategies.

Technology in action

Scientists who research neurodegenerative diseases often use multiple methods and technologies —either in individual patients or large cohorts. Put simply, researchers must confirm the data repeatedly to ensure that the outcomes are relevant and unbiased.

For example, a neurogenetics professor in the United Kingdom studies the changes in a gene’s sequence or expression that cause ALS. Microarrays can be helpful to characterize these genomic changes, because they can quantify a set of genes that are expressed at a single point in time. She uses this method, along with other molecular biology technologies, to identify the inflamed neurological pathways in ALS patients—the first step in addressing the disease. While there are currently no approved drugs that target the neuroinflammation that causes ALS, a quick diagnostic process provides essential information needed to begin medical intervention.

Another researcher at a university in Germany combines multiple technologies to better understand how non-coding mutations and structural genomic variants cause disease. In a recent study, he used RNA sequencing to identify cells that were exclusive to patients with Parkinson’s disease, and then used dPCR and immunohistochemistry to confirm that these cells were truly exclusive to those patients with the neurodegenerative disease. By sequencing more patients with various forms of disease progression, the research team hopes to better understand the roles these cells play in degeneration so that they can develop a biomarker for Parkinson’s, a key pillar of toolbox process that can help scientists fighting against NDs.

Paving the way for better therapeutics

With more and more people around the world being diagnosed with neurodegenerative diseases, innovative tools are enabling neuroscientists to tackle this public health challenge. The variance in symptoms, onset timeline and degree of degeneration between patients continues to challenge researchers and healthcare professionals, but genetic analysis solutions from whole-genome to distinct collection sequence research can provide long-sought answers to these difficult questions. Better understanding neural pathologies can pave the way for more targeted therapies and, ultimately, better patient outcomes in the future.

For more information about neurodegenerative diseases and Thermo Fisher’s commitment to providing neuroscience researchers with powerful solutions that enable them to pursue the understanding and intervention of neural pathologies, download our latest e-book: Integrating Technologies to Study Neurodegenerative Diseases.

Inside the e-book, you’ll learn:

1. How Applied Biosystems genetic analysis solutions can enable clear and actionable answers to your biggest questions surrounding the underlying biology of neurodegenerative disease —and allows for a researcher’s experimental creativity.
2. The strengths and challenges of biological approaches to identifying genetic drivers of disease, developing sensitive biomarkers, and designing effective therapeutics through real-world examples.
3. The powerful combination of innovative methods and tools that encourage neuroscientists to ask the tough questions and facilitate their research to, ultimately, provide more personalized treatment strategies and better patient outcomes in the future.