Metabolic Disease

Metabolic disorders occur when the body's usual metabolic processes are disrupted - numerous molecular pathways and thus, several organs, can be affected. These diseases can be congenital or acquired, each of the disease is often quite rare, however taken as a group the incidence is significant.

For some of the widely spread disease like diabetes or dyslipidemia, there are already several treatments available, however there is no cure. For other linked disease like obesity or NASH, we are still at the very beginning of understanding the underlying processes and finding drug targets. Therefore research for this class of diseases relies on discovering and quantifying biomarkers to elucidate underlying mechanisms and uncover novel drug targets. For easy detection of a wide range of metabolic biomarkers, we offer fast and pre-validated metabolic assay reagents, kits, and imaging systems.

Many of the metabolic diseases are caused by genetic mutations or by a combination of genetic and environmental factors. Thus, another research focus is on identifying these genetic risk factors. PerkinElmer can help you to optimize your genomic research by providing automated, yet flexible workflow solutions including nucleic acid isolation, PCR setup and NGS sample prep.

Metabolic diseases often have unclear symptoms and are only diagnosed due to complications at a late stage. However early diagnosis is important to avoid irreversible symptoms. Some of the disorders, like lysosomal storage disease or phenylketonuria, can by diagnosed early by newborn screening (Newborn Screening Disorders – PerkinElmer). For many others metabolic disorders reliable biomarkers and tools for early diagnosis are still needed. Also here, our large range of reagents, kits and instrumentation can help to identify new biomarkers.


Type 1 and Type 2 diabetes are complex diseases affecting nearly every major bodily organ and impacting the lives of millions of people worldwide.

Understanding the complex cellular and molecular pathways involved in diabetes and translating these findings into new prevention and treatment strategies. Our solutions are helping researchers to:

  • Examine the impact genetic and environmental factors have on molecular functions in cell models as well as their effects in vivo and how epigenetics are mediating the interaction between these two factors.
  • Determine the genetic basis for diabetes through the identification and functional analysis of rare mutations associated with beta cell function (Type 1/2), immune dysregulation (Type 1), and metabolism and obesity (Type 2).
  • Discover biomarkers associated with the onset of diabetes and improve our understanding of the underlying pathways, paving the way to target discovery.

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NAFLD (non-alcoholic fatty liver disease) and NASH (non-alcoholic steatohepatitis), are different states of fatty liver disease related pathologies. In these early stages the disease is still reversible, however more progressed pathologies like fibrosis and cirrhosis causing permanent damage to the organ. Thus, it is very important to find new biomarkers and noninvasive tools for early diagnosis of NASH.

NAFLD and NASH is strongly related to fast growing global epidemic of obesity and diabetes and therefore also presumably on the rise.

For a better understanding of the underlying molecular pathways PerkinElmer offers a wide range of ready-to-use assays to monitor biomarkers, phosphoproteins and transcription factors involved in the development and progression of NASH, NAFLD and fibrosis. Our Imaging solutions can also help you to monitor molecular processes or to find diagnostic tools.

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Explore Our Metabolic Disease Research Solutions

Drug Discovery Reagents

Drug discovery starts with an understanding of the basics of diseases and disease pathways. Throughout the process of unraveling the complexity of disease pathw ...

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Microplate Readers

As many of you know, microplate readers are instruments used to detect biological, chemical, biochemical or physical events from samples in a microplate. This i ...

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In Vivo Imaging Instruments

Whether you’re trying to understand biology pathways, monitor disease progression, or evaluate drug candidates earlier in drug development, our wide portfolio o ...

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High Content Screening Instruments

High-Content Analysis (HCA) or High-Content Screening (HCS) combines high-throughput automated imaging and analysis to extract quantitative multi-parametric dat ...

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Radiometric detection is considered the gold standard for many applications, from drug discovery and development to plant sciences. The technique achieves sub-f ...

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Live-Cell Imaging Instruments

Life science research labs study cellular behaviors and pathways to gain a deeper understanding of functions, disease mechanisms and responses to treatments. An ...

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Radiometric Detectors - Research

Radiometric detection has long been and remains today as the gold standard used by researchers in many scientific applications such as analyzing drug pathways, ...

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