The research sector of MAGI’s laboratories has five researchers and the latest equipment. Research is conducted according to the indications and needs of the genetic diagnostic sector. This provides research and experimentation aimed at specific requirements identified by genetic analysis of the diseases studied and diagnosed, with enormous advantages in terms of quality and efficacy of the genetic tests offered. The latest lines of research are in the following fields:
ANALYSIS BY NEXT GENERATION SEQUENCING
The NGS technique is making a big contribution in the field of diagnosis and research of rare genetic diseases with high genotypic and phenotypic variability in terms of recognition of the genes involved and disease-causing mutations. Many genes can be analysed simultaneously by this method.
Next generation sequencing can be used for different applications, including targeted sequencing (analysis of groups of genes), whole exome sequencing (WES, analysis of the whole coding region of all of an individual’s genes), whole genome sequencing (WGS, analysis of the entire genome of an individual) and transcriptome analysis (analysis of all RNA products of a cell).
DEVELOPMENT OF BIOINFORMATIC PIPELINES
Analysis of NGS data requires a sophisticated bioinformatic pipeline that provides an annotated list of variants from crude sequencing data, known as Fastq. The pipeline is a chain of different but linked scripts in a logical flow, where the output of one becomes the input of the next. Specifically, the pipeline developed from this line of research adapts to genetic diagnostic needs by developing the custom algorithms necessary to estimate internal frequencies, and filters variants by suspected diagnosis while ensuring protection of personal data. At the end of the process, the final annotated result is automatically imported into the content management system (CMS) database for facilitated management of the whole work flow up to the report.
FUNCTIONAL STUDY OF PROTEINS RESPONSIBLE FOR GENETIC DISEASES
The aim of this line of research is to study the exome of patients and their families, thought to harbour hereditary disease but for which genetic testing of known and frequently mutant genes in the Italian population has failed to identify the disease-causing mutation. This line of research is in fact concerned with the functional study of identified genes and mutations in order to understand etiopathogenesis. The laboratory is also concerned with the study of gene mutations, already known to have a role in monogenic diseases, but for which a role in the disease is not yet clear due to a lack of literature and information. This can improve diagnostic reports and in some cases indicate new therapeutic strategies.
CREATION OF ELISA KITS FOR DIAGNOSIS OF AUTOIMMUNE DISEASES
Certain diseases unsuccessfully studied at genetic level are characterised by autoantibodies against certain proteins that progressively prevent protein function. These diseases are considered to be rare and their prevalence is underestimated for lack of well-defined diagnostic criteria. Autoantibodies are a key component for the diagnosis and prognosis of these diseases, and their detection in the bloodstream enables these disorders to be classified and monitored and possible therapies to be found. The aim of this research is to identify target autoantigens of these autoimmune diseases in order to develop diagnostic assays.