Description, goal and main tasks
The Microbiome and Human Genomics scientific interest group (G-SIG) gathers experts and stakeholders with an interest in personalized medicine guided by genomic information. Areas of focus include personal genomics, pathogen genomics, and the human microbiome.
Advances in high-throughput DNA sequencing techniques have triggered a revolution in our ability to generate genomic information in disease research. These techniques may be used to sequence single genomes from both humans and microbial pathogens, but also allow for deep sequencing of the collective genomes of the microorganisms that reside on and within humans. Accordingly, the technological advancements open for an opportunity to use knowledge about the genetic makeup of humans, pathogens, and microbiomes to predict and understand phenotypes.
It is the aim of the G-SIG to ensure that Persimune harness the advance in high throughput sequencing in order to integrate information on genomes and microbiomes in tailoring and developing in medicine.

Specific projects and goals include:

(1) Identification of disease-causing genetic variants in immunocompromised patients. At the clinical level, identification of disease-causing genetic variants will improve diagnostics and help to guide treatment. At the basic research level, identification of disease-causing genetic variants will help to characterize the genetic basis and heterogeneity of disease and may lead to discovery of novel immune defence mechanisms.

(2) Use of high throughput sequencing for detection of microbial infections in patients with neutropenic fever. This project aims to use deep sequencing of DNA from patient blood samples to search for the presence of DNA from potential pathogens. Hereby, we expect to be better able to differentiate between febrile episodes that are caused by genuine invading infections and episodes that are not. In addition, sequence reads can be used to obtain detailed information about the genetic makeup of infecting pathogens, for example with respect to genotype and antibiotic resistance genes. 

(3) Investigating infectious disease outbreaks using pathogen whole genome sequencing. This project aims to employ whole genome sequencing of microbial pathogens to obtain ultimate resolution for epidemiological typing to define transmission pathways of pathogens, to support outbreak investigations, and track the dissemination of antibiotic resistance genes. This will help to inform the clinicians on how to treat and segregate patients.

(4) Association between the composition of the microbiome just prior to and shortly after iatrogenic induced immune paralysis and subsequent risk of invading infection. This project aims to understand how the microbiome is affected by and contributes to complications after initiation of immunosuppressive treatment or chemotherapy.

The G-SIG will provide an open forum experts and stakeholders within microbiome and genomics research to connect to the Persimune research platform. Accordingly, working groups will can be formed to develop and pursue specific projects.