Exciting news in genetic research! The Human Pangenome Reference Consortium has unveiled an improved version of the human pangenome reference. This comprehensive reference includes genetic information from 47 individuals, covering over 99% of expected sequences with exceptional accuracy. Researchers have discovered known and novel genetic variations, including complex regions previously undiscovered.
The improved pangenome opens up possibilities for genomics and precision medicine, allowing researchers to explore our genetic makeup with unprecedented accuracy. Read more about this breakthrough under Article 1.
Contents
- Article 1: A draft human pangenome reference
- Article 2: Polygenic prediction of preeclampsia and gestational hypertension
- Article 3: Neural crest E-cadherin loss drives cleft lip/palate by epigenetic modulation via pro-inflammatory gene–environment interaction
- Article 4: Genetic patterning for child psychopathology is distinct from that for adults and implicates fetal cerebellar development
- References
Article 1: A draft human pangenome reference
The Human Pangenome Reference Consortium created a preliminary version of a comprehensive human pangenome reference. It includes genetic information from 47 diverse individuals, accurately covering over 99% of expected sequences. By comparing these sets, researchers identified known and new genetic variations, including complex regions. They added 119 million polymorphic sequences and 1,115 gene duplications not found in the previous reference genome (GRCh38). This new pangenome reduced errors in detecting small genetic variations by 34% and increased the detection of structural variations by 104% compared to GRCh38-based methods. Read the full article here.
In summary: Improved human pangenome identifies more genetic variations
Article 2: Polygenic prediction of preeclampsia and gestational hypertension
Researchers have identified 18 genetic regions associated with hypertensive disorders of pregnancy (HDPs), including preeclampsia, eclampsia, and gestational hypertension, which are leading causes of maternal and neonatal deaths. The study involved analyzing the DNA of over 20,000 cases of HDPs and more than 700,000 control individuals. The identified genetic loci shed light on various biological processes involved in these conditions and could potentially lead to the development of therapeutics to prevent or treat HDPs. Additionally, the researchers created genetic risk scores that could help predict the risk of developing these disorders, aiding in pregnancy risk stratification. Read the full article here.
In summary: 18 genetic regions linked to pregnancy-related hypertension discovered
Article 3: Neural crest E-cadherin loss drives cleft lip/palate by epigenetic modulation via pro-inflammatory gene–environment interaction
Researchers conducted a study to understand the causes of cleft lip/palate (CLP), a common facial malformation. While previous studies identified genetic variants associated with CLP, they did not fully explain its inheritance. One gene linked to CLP is CDH1, but not everyone with the gene variant develops the condition. The researchers found that the mutation led to CLP in mice, frogs, and human stem cells only when combined with inflammation-causing environmental factors. They concluded that pro-inflammatory activation, affecting genes like CDH1, may play a central role in the development of CLP, but other genes and pathways may also be involved. Read the full article here.
In summary: Inflammation and gene mutation contribute to cleft lip/palate
Article 4: Genetic patterning for child psychopathology is distinct from that for adults and implicates fetal cerebellar development
Scientists have identified genes expressed in the fetal brain that increase the risk of specific psychiatric disorders during childhood, using data from a study on adolescent brain development. Psychiatric disorders often arise early in life but can manifest as distinct illnesses later on, making it challenging to diagnose in children. The researchers developed a neurodevelopmental polygenic risk score (PGS) based on overlapping genetic variants associated with attention deficit/hyperactivity disorder, autism, depression, and Tourette syndrome. This PGS predicted psychiatric symptoms in mid-childhood more accurately than other scores and was associated with genes expressed in the cerebellum during fetal development, offering insights into the biological basis of childhood psychopathology. Read the full article here.
In summary: Prenatal gene activity affects childhood mental health
New in Genetics issue May 2023. Every month, Medicover Genetics curates the most important peer-reviewed scientific publications related to genetics.
References
[1] Liao, Wen-Wei et al. “A draft human pangenome reference.” Nature vol. 617,7960 (2023): 312-324. doi:10.1038/s41586-023-05896-x https://www.nature.com/articles/s41586-023-05896-x
[2] Honigberg, Michael C et al. “Polygenic prediction of preeclampsia and gestational hypertension.” Nature medicine, 10.1038/s41591-023-02374-9. 29 May. 2023, doi:10.1038/s41591-023-02374-9 https://www.nature.com/articles/s41591-023-02374-9
[3] Alvizi, Lucas et al. “Neural crest E-cadherin loss drives cleft lip/palate by epigenetic modulation via pro-inflammatory gene-environment interaction.” Nature communications vol. 14,1 2868. 24 May. 2023, doi:10.1038/s41467-023-38526-1 https://www.nature.com/articles/s41467-023-38526-1
[4] Hughes, Dylan E et al. “Genetic patterning for child psychopathology is distinct from that for adults and implicates fetal cerebellar development.” Nature neuroscience, 10.1038/s41593-023-01321-8. 18 May. 2023, doi:10.1038/s41593-023-01321-8 https://www.nature.com/articles/s41593-023-01321-8
