Researchers in Austria developed a multiplex network by mapping genes and their interactions on multiple levels, which can help better identify genetic defects and study their consequences. 

To build the network, the team led by Jörg Menche, PhD, adjunct principal investigator at the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences mapped more than 20 million gene relationships and protein interactions. The researchers integrated a dataset of more than 3700 rare diseases, the genetic basis of which is known, into the network.

“The multiplex network integrates different network layers that map different levels of the biological organization of our body, from the genome to the transcriptome, proteome, and phenotype,” Dr. Menche said in a press release by the research center. “By mapping protein interactions and mechanisms, we can also better characterize those proteins whose roles in diseases were previously unknown and thus track down gene defects more quickly.” 

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The study was published in Nature Communications. First author Pisanu Buphamalai said their integrative approach increases the likelihood of finding the crucial gene aberration causing disease by 3 times, compared to when the networks are considered separately.

The researchers then tested their network using data from patients with neurological conditions with a known genetic cause. Dr. Menche said their study shows how a big dataset can be used to address several practical and conceptual challenges in the field of rare disease research and improve diagnosis and treatment.

Unlike common diseases that are the result of complex interactions between multiple genes and environmental factors, rare genetic diseases are usually caused by a single genetic mutation. However, it is still difficult to identify the pathobiological mechanisms at different levels of biological organization. The multiplex network presented here allows researchers to more quickly identify defective genes that may cause rare diseases.


Multiplex network improves diagnosis and analysis of rare diseases. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences; News release. November 9, 2021.

Buphamalai P, Kokotovic T, Nagy V, Menche J. Network analysis reveals rare disease signatures across multiple levels of biological organization. Nat Commun. 2021;12:6306. doi:10.1038/s41467-021-26674-1