Genetics is an ever-emerging field. Epigenetics and gene expression studies ruled the last couple of years. However, a wide range of discoveries starting from DNA repair to CRISPR gene therapy has been made during this year.
This year (2023) scientists discovered new genes, added millions of new nucleotides to the human genome and found new variations associated with diseases. Furthermore, new polygenic conditions are explored comprehensively and new disease-linked genes are identified.
Now! We are at the very end of 2023. Wrapping up this year with happiness and enthusiasm, here, I am enlisting amazing discoveries made in the field of genetics in the year 2023.
Interesting article: Genetic Research Trends in 2023: A Data-Driven Study.
HERVs as important fossil remnants
In Jan 2023, at the very beginning of the year 2023, Zhang et al. studied the HERV (Human Endogenous retrovirus) sequence present in the human genome and their potential implications on human health.
Remained inactive due to loss of its protein capacity, it was believed, that HERV played a pivotal role in germline infection, and viral epidemic around 30 million years ago. However, it is inactivated during the evolution process but still plays a crucial role in gene regulation.
The present study demonstrated that the non-coding HERVs remnant non-coding DNA sequences have a significant contribution to diseases, in particular cancer.
The present study showed not only its importance in ailments but also how it provides us with evolutionary benefits to acquire susceptibility to various diseases. This helps us develop new personalized medicines and fight against various infections (1).
The first draft of Human Pangenome
On 10 May 2023, Liao et al and Human Pangenome Reference Corticium presented the first diploid human pangenome. The previous genome was sequenced 20 years ago, roughly!, and contained errors and gaps. Shokingly 70% of sequences were collected from the sample of a single individual.
The present pangenome has been prepared by various volunteers from diverse populations with 99% accuracy and 99% sequence coverage. The present study also reported 119 million additional base pairs in the euchromatin region and 1115 new gene duplications.
The present discovery helps scientists understand new insights into the human genome, with more accuracy and consistency. Various disease models and their genomic relations can be established with more ease in the future (2).
Complete Sequence of Y Chromosome
The Human Y chromosome is the least gene-rich and smaller chromosome. The presence of high tandem repeats, palindromic sequences and segmental duplications pose challenges in sequencing it, completely.
In Sep 2023, Rhie et al. at Telomere-to-Telomere Corticium sequenced 62,460,029 base pairs of the entire Human Y chromosome. In addition, 41 new protein-coding genes and 30 million base pairs are added to the Y chromosome. RBMY, DAZ and TSPY gene regions are now completed with sequence added (3).
The present finding helps us understand the importance of the Y chromosome in human health and ailments, which was previously partially known. One of the promising aspects of the present finding is its positive impact on infertility and reproductive health-related research.
- What If the Y chromosome Completely Vanished From Earth?
- Y Chromosome— Structure and Function [An In-depth Review].
- X chromosome vs Y chromosome- Differences and Similarities.
New Synthetic Human Embryo
16 June 2023, scientists announced that they have grown a synthetic human “embryo-like structure” from the human pluripotent stem cells. The synthetic human embryo-like structure eliminates the need for an egg and sperm.
However, it didn’t develop into the fetus but showed a close resemblance to the early stage of an actual human embryo. It also developed structures like the yolk sac and primitive placenta.
Scientists don’t entertain such studies due to wrong ethical practices. Still, the present and related research opens new avenues to develop synthetic life in the future.
(Source: News Explainer from Nature.)
Related article: Synthetic Genome- Methods, Applications And Challenges.
First Ever CRISPR Therapy against HIV
CRISPR cas9 has remained in trends and discussion during this decay. However, substantially fruitful clinical outputs have been obtained in the last couple of years.
An article published in CRISPR Medicine News demonstrated that scientists obtained positive clinical trial data for CRISPR therapy against HIV. Two sgRNA delivered in the genome can potentially cleave the HIV DNA at three different positions and nullify its escape tendency.
However, the therapy will only be available after successful FDA approval. Let’s see when it will be available!
These are the few crucial groundbreaking discoveries made during 2023. However, other, substantially impactful research was also conducted that opened new avenues in the field of ADS, Breast Cancer Research, non-coding DNA and ancient DNA studies.
I will give you the links to all articles here. You can read it. I hope you like this article. Share it with your friends. And best of luck for 2024.
- New BRCA2 Gene Variant Induces Genomic Instability and Excessive Homologous Recombination.
- Recent Research Has Identified 26 Novel Variants in Hemophilia.
- 10 Ancient DNA Samples that Bring the Past to Life.
- Zhang M, Liang JQ, Zheng S. Expressional activation and functional roles of human endogenous retroviruses in cancers. Rev Med Virol. 2019 Mar;29(2):e2025. doi: 10.1002/rmv.2025. Epub 2019 Jan 6. PMID: 30614117; PMCID: PMC6590502.
- Liao, WW., Asri, M., Ebler, J. et al. A draft human pangenome reference. Nature 617, 312–324 (2023). https://doi.org/10.1038/s41586-023-05896-x.
- Rhie, Arang et al. “The complete sequence of a human Y chromosome.” Nature vol. 621,7978 (2023): 344-354. doi:10.1038/s41586-023-06457-y.