Rare Genetic Disease Models

Rare genetic diseases are rare and often serious diseases, for which a cure may be within reach given the current breakthroughs in gene therapy.

Rare diseases and syndromes

By definition, rare genetic diseases affect less than 1 in 2000 people. Historically, rare diseases were typically described as ‘syndromes’ or ‘diseases’ that received the name of the physician that first described the disease. These rare diseases seriously decrease the quality of life and currently there is no effective treatment to many of them.

The recent advent of therapies with oligonucleotides or viral vectors (i.e. gene therapy) has enabled biotech and big pharma companies to develop treatments of rare genetic diseases. Given their unambiguous cause, a treatment for many of these diseases may soon be within reach.

Genetic mutations and mouse models

Numerous genetic mutations have been identified that cause these rare diseases, which have been mimicked in mouse models to better understand the mechanisms that lead to the disease symptoms. These mouse models of rare genetic diseases provide an important tool to develop effective new therapies and genetic therapies.

Sylics offers preclinical testing in a range of mouse models of rare genetic diseases.

Sylics offers unique services with mouse models for Vanishing White Matter (VWM), a fatal brain white matter disorder.

Sylics offers unique services with mouse models of STXBP1/Munc18-1 encephalopathy, a genetic form of epilepsy.

Sylics offer services with an Fmr1 knockout mouse line, which is a translationally relevant model of Fragile-X Syndrome.

More information

Please reach out to us if you want to learn more about our Rare Genetic Diseases solutions. We will contact you within 1 business day.

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