Neuroscience Research

Many prominent scientists, philosophers, and artists alike are mesmerized by the brain, likening this 3 lbs of matter to a computer, a great factory, a beautiful mess, a world of unknown territory, or the most complicated object in the known universe, among other descriptors. Neuroscience researchers collectively study the complex structure and function of the nervous system, including the brain, using some of the most exciting analytical, cellular and molecular biology, and imaging technologies to help elucidate mechanisms that may help better explain disease development and aid in potential drug discovery for neurological disorders. Among these, neurodegenerative diseases – where nerve cells in the brain or peripheral nervous system loses function over time eventually leading to cell death or synaptic alternations that cause a cessation of normal organ function - are thought to affect millions of people worldwide, especially as the global world population ages. Researchers everywhere are furiously working to understand the inner biological processes behind complex yet ubiquitous diseases like Alzheimer’s, Parkinson’s, ALST/FTD, as well as rare diseases of neurological nature.

To enable researchers to do their best research, PerkinElmer offers a product portfolio that delivers on robust reagents and dependable instruments to accelerate molecular biomarker and therapeutic discoveries.

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Neurological Diseases - Key Facts and Figures


Alzheimer’s Disease

  • Characterized by atrophy of the cerebral cortex, and certain sub-cortical regions
  • Affects 50 million people worldwide
  • Women are more at risk than men

Parkinson’s Disease

  • Long-term degenerative disorder with motor symptoms caused by dopaminergic neuronal death in the midbrain region
  • Affects 7 million to 10 million people worldwide
  • Men are more at risk than women
Multiple Scleorsis (MS)

Multiple Scleorsis (MS)

  • Brought about by irreversible axonal loss caused by the immune system’s attach on myelin sheaths that protect nerve fibers
  • Most common disabling neurological condition in young adults
  • Women are two to 3 times more affected than men
Amyotrophic Lateral Scelrosis (ALS)

Amyotrophic Lateral Scelrosis (ALS)

  • Characterized by loss of voluntary muscle control due to neuron death
  • Part of the motor neuron disease (MND) group
  • Also known as Lou Gehrig’s Disease
Huntington’s Disease

Huntington’s Disease

  • A rare, inherited disease caused by a single gene defect that leads to progressive decline in movement, cognition, and mental/physical capability
  • Symptoms often appear in patients in their 30s or 40s
  • An autosomal dominant transmission with one defective copy

Spinal Muscular Atrophy (SMA)

  • Hereditary autosomal recessive disease with progressive loss of motor neurons
  • Most common form associated with defects in both copies of SMN1
  • Affects approximately 1-2 per 100,000 persons, with incidence of around 1 in 10,000 live births.

Traumatic Brain and Spinal Cord Injury (TBI and SCI)

  • SCI is defined as damage to the spinal cord from trauma or from degeneration or disease
  • Research on global prevalence of SCI hovers between 236 to 1,298 per million people, with an increasing trend
  • TBI is a leading cause of death and disability in children and young adults in the US, with an estimated 1.5 million impacted annually

Batten’s Disease/ Neuronal Ceroid Lipofuscinoses

  • Broad class of rare but fatal inherited disorder caused by defective lysosome recycling mechanisms in the cell
  • Different forms /classification exists based on which CLN gene is causative of the disease
  • Estimates of 1 in 12,500 in some populations, with many more individuals living as carriers

Protein Aggregation

Several neurodegenerative disorders have been linked to excess or unnatural protein aggregations that are pathogenic due to their toxic nature. Among these are those proteins like prion, tau, β-amyloids, α-synucleins, and Huntington’s disease, whose de-regulation are associated with diseases like Alzheimer’s, Parkinson’s, and Huntington’s. More recently, the insolubility and lack of clearance of mutated FUS has been implicated in ALS/FTD as well.

It is thought that abnormal aggregations can result from misfolded proteins, mutations, excess generation of oligomer seeds, aberrant phosphorylation, and inefficient clearance, among other working theories. Several biotech and pharma companies are developing novel solutions targeting the aggregation or accumulation of these proteins as potential therapeutic targets, including the use of neutralizing antibodies or usage of PROTAC. Understanding the molecular pathways and resulting consequences of protein aggregation and accumulation is an active field of research.



Neuroinflammation – the CNS’ immune system activation in response to various damage cues – is thought to contribute to the cause and exacerbation of many neurological diseases, including several neurodegenerative diseases. Microglia cells, major regulators of the brain’s immune system that typical maintains brain homeostasis, along with astrocytes contribute to the neuroinflammatory processes involving NF-κβ activation and release of proinflammatory cytokines such as TNF- α and IL-6. Thus, under pathological conditions, neuroprotection and neurotoxicity induced by microglia activation is off-balance, and consequently astrocyte activity can also become de-regulated to perpetuate the pro-inflammatory response.

Researchers continue to strengthen the link between various tau pathologies and damage to neuronal pathways to the neuroinflammatory processes in the theory of neuroimmunomodulation, originally described by Dr. Maccioni’s group describing Alzheimer’s disease.

Though the brain is, for the most part, considered separate from the circumstances of rest of the body thanks to the blood-brain barrier, severe cytokine storms may also consequently affect brain function and cause brain swelling, along with cytokine-induced psychiatric symptoms, according to some studies. More recent studies have also linked neurological symptoms to COVID-19-induced cytokine storms as a result of chronic inflammation or local viral-induced brain inflammation.


Altered Cellular Process

Several cellular processes that maintain the status quo in biological processes related to brain and nervous function can become disrupted in neurological disorders. These altered processes may include, and are not limited to, inappropriate apoptosis or stress-induced necrosis with cell cycle deregulation or arrest, diminished autophagy, impaired proteostatis and lipid peroxidation, lysosomal or mitochondrial dysfunction, abnormal cell-cell communication and intracellular signalling of key pathways involving G proteins or GPCR, and disrupted kinase/phosphatase function, among others.

Outside of specific alterations to core cellular pathways, some researchers are choosing to study and tackle more extensive effects in the form of epigenetic changes via DNA methylation and histone modifications in understanding certain neurodegenerative disorders. Similarly, others have taken a broader approach, looking at phenotypically observable features including impaired microglial motility, angiogenesis or endothelial or vascular dysfunction, to name a few.

To tackle the plethora of molecular and phenotypic pathways and that may be important to proper neuronal and brain function, PerkinElmer offers a fleet of reagents, consumables, and instruments spanning both in vitro assays to in vivo pre-clinical imaging to accelerate basic research, high-throughput screening, and high-content screening to ultimately help depict a clearer image of the dysregulation of critical cellular processes involved in neurological diseases.


Rare Disease

Neurological disease research is not only limited to common neurodegenerative disorders that are complex and multifactorial in nature like Alzheimer’s or Parkinson’s. Rare diseases, classified as a condition affecting fewer than 200,000 people in the US or no more than 1 person in 2,000 in the EU, include neurological and neuromuscular diseases such as ALS, DMD, Huntington’s, and SMA. Once thought to be synonymous to a ‘neglected’ disease, orphan diseases and their associated research has grown over the years thanks to increased support and social awareness from advocacy groups, several federal incentives such as orphan drug policies and cost of therapies for pharma.

This progress includes research and potential therapies that surround rare neurological disease as well, particularly those tied to a very defined genetic cause. One can no longer argue against the importance of neurogenetics and potential benefits of genetic testing/screening and corresponding gene therapies; similarly, the advances in technologies spearheaded by next-generation sequencing (NGS) and gene modification techniques utilizing CRISPR/Cas9 and other ingenious methods have propelled this new branch of therapeutics from nascent proof-of-concept innovations into an unstoppable force in many pharma research spheres.


Biomarker and Drug Discovery

Large strides have been made in the field of neuroscience in recent decades, partly in attempts to pursue new therapies and drugs that may help cure various diseases; in reality, however, neurological disease drug discovery has been challenging, with small pipelines and several promising drugs failing to deliver visible results late in the investigation.

As more and more genetic and molecular pathways become elucidated in neurological disorders, in parallel, the importance of biomarkers for risk factor identification, pre-symptomatic disease detection, and likelihood of therapy response is actively explored. Another ambitious branch of drug discovery research is utilizing stem cells, which utilizes the principles of regenerative medicine, in the context of neurodegenerative diseases that is typically defined by neuronal cell or functional loss in one form or another.

Many current small molecule or biologic drug therapies address management of disease progression or symptoms as there are currently no cures or yet a comprehensive understanding of the be-all end-all cause of the disease. Outside of canonical drug discovery research, neural stem cell research is an attractive route of investigation for alternative therapy based on cellular replacement or neuroprotective niche enrichment.


Explore Our Neuroscience Research Products and Solutions


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Neuroscience Research Reagents

Over 55 million people worldwide are developing dementia and this number is expected to double by 2050. All the neurodegenerative disorders studies and associat ...


Featured Solutions


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