Research in neonatal genetics

The research in Section for Neonatal Genetics focuses on genetic markers both at the DNA and RNA level. The work spans from measuring individual genomic variants or genes to sequencing entire genomes or transcriptomes. The analyses are used both in routine examination and in research projects.

Focus and Mission

Development of newborn screening

We are actively developing methodologies to validate the findings from the screening program at the genomic level. Simultaneously we are working on novel technologies which will allow cost-effective screening of large populations for rare genetic disorders.


We combine state of the art technology with population-based biobanks to create true population samples. We use these samples to study the genetic basis for common disorders. The stable of this remains the GWAS which cost-efficiently surveys large cohorts. Our high throughput laboratory can process more than 2000 such samples per week. The same lab is also capable of whole-genome sequencing more than 200 whole humane genomes per week.


We use RNA-seq and RNA-tag methods for the study of transcriptomics at the time of birth. Transcriptomics as a molecular biomarker offers a snapshot of the gene activity at the time of delivery. Unique snapshots of cellular activity are used to, e.g. study cellular processes or look for perinatal effects.

Jonas Bybjerg-Grauholm


Jonas Bybjerg-Grauholm , Congenital Disorders / Neonatal Genetik
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