Applied Biosystems Solutions for Rare & Inherited Disease

Applied Biosystems solutions have the answers to rare and inherited disease questions

Whether you’re trying to identify the underlying cause of phenotypic or pathogenic abnormalities, looking to develop new interventions, or discover novel biomarkers, Applied Biosystems solutions are where rare and inherited disease research comes together. We deliver the customized products and services, gold-standard technology, and unrivaled in-house expertise you need to go out and find the answers to genomics’ biggest questions.

eBook: Decoding rare and inherited diseases with genetic technologies

Rare and inherited diseases result from mutations within the genome affecting one or more genes. Over 10,000 rare diseases are currently known, with 39% having a genetic origin.

 

Download our eBook to learn about the prevalence and impact of rare disesaes such as Huntington's and Duchenne muscular dystrophy, as well as how genetic technologies can enable researchers to analyze and understand how changes in genes can lead to these diseases.

Featured blog posts

dPCR approaches to study DMD


Duchenne muscular dystrophy is a rare disease caused by mutations in the dystrophin gene. Several factors make it challenging to develop effective therapies.

Dark DNA & rare disease

Around 5% of the genome is described as “dark” and remains mostly unknown in terms of function, sequence and importance. Research now shows that this genomic “babble” might exert strong influences on gene transcription and disease development.

Cystic fibrosis research


Learn about harnessing TaqMan real-time PCR assays for research in profiling miRNA and gene expression in cystic fibrosis.

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QuantStudio Absolute Q Digital PCR System

SeqStudio Flex Genetic Analyzers

For Research Use Only. Not for use in diagnostic precedures.