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.

CRISPR-mediated modeling and treatment of tandem duplications in rare inherited disorders

In this webinar, Eleonora Maino from the Hospital for Sick Children discusses using CRISPR-Cas9 genome editing to model tandem duplication disorders, such as Duchenne muscular dystrophy and MECP2 duplication syndrome, and how a single-sgRNA approach can be used to correct duplication mutations and treat tandem duplication disorders.

Featured blog posts

The future of mRNA therapies

The demonstration of the safety and efficacy of mRNA-based therapeutics through the vaccines against SARS-CoV-2 has since laid the groundwork for the development of mRNA-based drugs that target several other types of diseases. 

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.

NGS and Noonan Syndrome

Targeted next-generation sequencing (NGS) is an appealing option for researchers since targeted NGS can accurately interrogate many genes in one test, which reduces cost and speeds time.

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QuantStudio Absolute Q Digital PCR System

SeqStudio Flex Genetic Analyzers

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