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BAC library for rare diseases

There are approximately 350 million patients globally who suffer from about 7000 rare diseases. The vast majority of these diseases are characterized by Mendelian genetic inheritance mechanisms and still lack approved therapies despite the availability of molecular biology tools which have revealed causative mechanisms of rare diseases. The latest genetic analyses technologies have helped identify new mutations responsible for previously defined disorders.

In order to facilitate the systematic genetic analyses of rare diseases we are launching in 2020 our latest service offering “BAC library for rare genetic diseases”. This service enables rare disease patient groups, organizations and scientists to construct a BAC library (5X-10X genome coverage) of the specific disease phenotype from available tissue/blood samples of patients.

Additionally, if relevant (specific) primers sets for the genetic loci for the disease phenotype are known and are provided to us, we will screen the constructed BAC library for positive identification of specific BAC clones containing the insert encompassing the required genetic loci. These screened BAC clone insert(s) containing the mutated gene loci can be sequenced to ascertain the genetic mutation(s) responsible for the disease phenotype. Also, these positively identified BAC clone inserts can be genetically transferred to a humanized mouse model to understand the disease mechanisms and to test therapeutic modalities such as cell and gene therapy, monoclonal antibodies and ASO (antisense oligonucleotides).

We have deep expertise in constructing and screening BAC libraries from various species over the past 20 years and can provide a list of references.