Top 25 Most Recent Genetic Discoveries in 2018

Genetics News in 2018

The current breakthroughs in genetics are mostly due to the improvement in applications and function of CRISPR/Cas9 systems. Using highly precise gene editing, geneticists can work in various fields, helping move scientific knowledge to previously unimagined heights.

Table of Contents

Top 25 Genetics News in 2018

Here are the top 25 recent breakthroughs in genetics, and new genetic discoveries in Genetics for 2018.

1. Checking with temperature: how to ensure that the mutation sticks to the plant.

Lettuce plantThe first genetic breakthrough in our list for 2018 is for the plant world. Bertier et al. have offered an ingenious way to assess whether the novel mutation caused by the CRISPR/Cas9 system is inheritable in lettuce.

  • He has created a system that couples the lettuce LsNCED4 gene that determines the temperature at which the plant seeds can effectively germinate together with the target sequence in his vector.
  • If the intended modifications have indeed affected the germ line, they would also lead to the development of seeds that germinate outside the normal temperature range in the species.
  • As a result, the screening for successfully modified seeds is greatly simplified.
Reference: Bertier, L. D. et al. (May 1, 2018). High-Resolution Analysis of the Efficiency, Heritability, and Editing Outcomes of CRISPR/Cas9-Induced Modifications of NCED4 in Lettuce (Lactuca sativa). G3: Genes, Genomes, Genetics, V. 8. No 5, pp. 1513-152. Link.

2. Geneticists provide a glimmer of hope for AIDS patients – Functional cure of HIV using CRISPR.

HIV AIDSThe next discovery for 2018 is in the human genetics. Currently, living with AIDS means being completely dependent on medications.

  • However, there is some approaches that can potentially render this therapy unnecessary; Such approaches include using small cellular molecules for activating infected cells, genetic modifications of immune cells and diverse immunotherapy methods.
  • Unfortunately, all the methods described are still experimental and do not display 99.9% efficacy.
  • The scientist aims to develop a method that allows the patients to live without medication long-term.
Reference: Davenport, M. P. et al. (November 8, 2018). Functional cure of HIV: the scale of the challenge. Nature Reviews Immunology, 2019. V. 19, p.p. 45–54. Link.

3. The viruses strike back – and help science: Discoveries of new CRISPR enzymes.

VirusThe famous CRISPR-Cas9 system has evolved in bacteria as a means of defense against their natural predators – bacteriophages.

  • Recently it was discovered that bacteriophages had developed their own “anti-CRISPR” strategies in retaliation.
  • This unique anti-bacterial weaponry can be repurposed to fine-tune and control gene editing experiments, which increases their efficacy and specificity.
Reference: Bondy-Denomy, J. Protein Inhibitors of CRISPR-Cas9. C. S Chem. Biol., 2018, V. 13, № 2, p. p. 417–423. Link.

4. Gene drives, vector born diseases and the fight against invasive species.

Invasive SpeciesAs medications fail in treating malaria and other vector-borne diseases, it is becoming increasingly important to control the vector populations themselves.

  • The most successful control strategy to date is the introduction of gene drive – a specialized gene system based on CRISPR/CAS9 that introduces certain traits into the wild population bypassing the natural inheritance mechanisms.
  • At present, two strategies were deemed effective and are even used in the field: the introduction of genes that decrease the ability of the insects to reproduce or introduction of genes that make the vector resistant to the parasite.
Reference: McFarlane G. R., C. B. A. Whitelaw, S. G. Lilico (February 1, 2018). CRISPR-Based Gene Drives for Pest Control. Trends In Biotechnology, V. 26, Issue 2, p. p. 130-133. Link.

5. Correcting the hemoglobin: novel therapies for thalassemia and sickle-cell anemia.

Blood TypesBeta-thalassemia and sickle-cell anemia are both monogenic genetic disorders affecting the hemoglobin gene.

  • All previous therapies, including blood transfusions and bone marrow transplants, were not effective enough.
  • Precise gene editing systems, such as CRISPR/Cas9, has led to the development of the novel therapy method.
  • In this approach, stem cells isolated from the patients themselves are cultivated, and their hemoglobin gene is edited explicitly in order to restore its function.
  • Then the edited stem cells are introduced back to the patient, where they can give rise to healthy blood cells.
Reference: Cai, L.-H. et al. A Universal Approach to Correct Various HBB Gene Mutations in Human Stem Cells for Gene Therapy of Beta‐Thalassemia and Sickle Cell Disease, Stem Cells Translational Medicine, 2018, V. 7, pp. 87–97. Link

6. Lentiglobin: a new gene therapy for hemoglobin disorders in the starting blocks to enter clinical practice.

HemoglobinAnother gene therapy treatment effective for β-thalassemia and sickle cell anemia is approaching the health market.

  • Patients are given a lentivirus-based vector with a functional hemoglobin subunit gene.
  • The virus enters blood cells and delivers a good gene variant. The novel agent was LentiGlobin BB305 and will soon be used in Phase III clinical trials.
Reference: Sili-Felice, K, et al. (August 2018). Hemoglobin disorders: lentiviral gene therapy in the starting blocks to enter clinical practice. Experimental Hematology, 2018, V. 64, pp. 12-32. Link.

7. Conquering inflammation disorders with gene editing

Gene EditingGene editing can help not only with single-gene disorders, nut with complex inflammatory diseases as well. The novel treatment strategies include:

  • Introduction of individually edited stem cells targeted at counteracting self-antigens;
  • Specifically engineered anti-cytokine vaccines that decrease the susceptibility of target cells to inflammatory cytokines;
  • Restoration of damaged tissue with the help of genetically edited stem cells in osteoarthritis;
  • Introduction of engineered T regulatory cells subsets;
  • Using RNA editing for inflammatory gene expression control.
Reference: Ewart, D. T, E. J. Peterson, C. J. Steer (2019). Gene editing for inflammatory disorders, Annals of the Rheumatic Diseases, 2019, V. 78, pp. 6-15. Link

8. Looking inside leukemia: Unraveling novel genes that are essential for acute myeloid leukemia and normal hematopoiesis.

LeukemiaThe proliferation of cancer cells is dependent on mutation and activity of specific genes.

  • In each cancer type, different genes are essential for cancer cells development, growth, and survival. G. Turköz et al. have found three genes that were crucial for the successful development and growth of cancer cells in acute myeloid leukemia – CHD4, EHMT1, and GTF2IRD1.
  • Those genes can potentially become gene therapy targets for the treatment of this type of cancer that is especially dangerous for young children.
Reference: Turköz, G. (23 November 2018). Unraveling novel genes that are essential for acute myeloid leukemia and normal hematopoiesis / Doctoral Thesis, Karolinska Institutet, October 2018. ISBN: 978-91-7831-239-9. Link./div>

9. A new CRISPR/Cas toolkit: Cas13, a new Swiss Army knife for plant biologists.

CRISPRSpecific nucleases such as Cas9 and recently discovered Cas12 are already revolutionizing research and therapy.

  • The discovery of new nucleases, Cas13a and CAs13b, have made single-strand RNA editing possible as well.
  • Plant biologist view this new tool as an exciting gift. First, RNA editing allows post-transcriptional modification of gene expression. Second, it is a powerful tool for combating RNA-based viruses infecting plants.
  • There are potential other applications for this new technology, and combining DNA and RNA editing can allow complex manipulations of metabolism in plants.
Reference: Wolter, F., H. Puchta. (25 March 2018) The CRISPR/Cas revolution reaches the RNA world: Cas13, a new Swiss Army knife for plant biologists. The Plant Journal, June 2018, V. 94, Issue 5, pp. 767-775. Link.

10. Sorting through the tumors: A system for detecting high impact-low frequency mutations in primary tumors & metastases.

Treating TumorOne of the reasons that cancer is so hard to treat is that its cells mutate frequently.

  • Because of this, there are multiple clusters of genetically different cells in a tumor. M.Anjanappa et al. have developed a system that involves isolating and cultivating tumor cells.
  • This system allows scientists to identify previously undetected mutations in various subsets of the tumor cell population.
  • This approach can help understand the composition of cancer tumors better and develop new treatment strategies.
Reference: Anjanappa, M. et al. (11 September 2017). A system for detecting high impact-low frequency mutations in primary tumors and metastases. Oncogene, January 2018, V. 37, pp. 185–196. Link.

11. What your RNA can tell: The new world of RNA biomarkers and explorers’ prudence rules.

RNARecently, non-coding RNAs (ncRNAs) have become a focus of extensive research.

  • Those molecules participate in modulating transcription and epigenetic regulation of genome activity.
  • Among other things, some ncRNAs were proposed as biomarkers of disease progression in cancer.
  • They can be easily detected in biological liquids, such as blood or urine, and used for evaluation of the patient’s condition.
  • However, the sheer number of these molecules and lack of consistent analysis points to the necessity of strict rules in the detection of such molecules.
Reference: De Bortoli, M., L. Miano, L. C. Tarrero. (April 23, 2018). The new world of RNA biomarkers and explorers’ prudence rules. The international journal of biological markers, 2018, V. 33. Issue 3. Link.

12. Sneaky RNA: Regulation of genome‐wide DNA methylation by mobile small RNAs.

RNA in plantsDNA methylation is a crucial epigenetic mechanism that regulates gene activity.

  • Small RNAs (sRNAs) are a typical example of the tools that promote such epigenetic control. sRNAs can direct methylation at specific sites of the genome and can travel from cell to cell in the plants, thus controlling their development.
  • At present, the study of sRNAs is a booming research field that allows plant specialists to understand the genome activity in plants better.
Reference: Tamiru, M., T. J Hardcastle, M. G. Lewsley (06 November 2017). Regulation of genome‐wide DNA methylation by mobile small RNAs. New Phytologist Trust, January 2018, V. 217, Issue 2, pp. 540-546. Link.

13. Was life without DNA and enzymes possible? The answer is yes! Visualizing primer extension without enzymes.

DNA: molecule of lifeDNA is often referred to as a “molecule of life“.

  • DNA is now the original recipe for protein synthesis, but there is also RNA that has multiple functions, including regulatory activity.
  • More pieces of evidence suggest that this versatile molecule was the first “molecule of life” on Earth.
  • Moreover, the first RNAs were produced without the assistance of proteins. In 2018, Zhang et al. have used a series of crystallography-based “images” to document the step-by-step the process of synthesis of RNA without enzymes – proving that such process was indeed possible in the past.
Reference: Chaput, J. C. (May 31, 2018) RNA World: Visualizing primer extension without enzymes. eLife 2018;7:e37926. Link.

14. Editing mature neurons: providing hope for treating brain disorders.

NeuronsA novel, precise method of gene editing in mature neurons was proposed by Nishiyama et al.

  • His method used three components: homology-based DNA repair machinery containing Cas9, a guide RNA for specific sequences, and an adeno-associated virus.
  • Using this system, Nishiyama’s team has managed to edit sequences both in embryonic neurons and in adult neurons in aged mice, which opens many possibilities for treatment of nervous disorders, including epilepsy.
Reference: Richner, T. J., E. Krook-Magnusson (March 1, 2018). Progress toward Precise Genetic Repair in Neurons. Epilepsy Currents, 2018, V. 18, Issue 2, p. p.121-122 Link.

15. Better GMOs for food security: Genome Editing for Global Food Security.

GMO Food (Soybean)Genetically modified objects, or GMOs, are not a novel concept.

  • Despite being viewed with suspicion, they are the answer to maintaining important crops prone to diseases and other threats.
  • With undernourishment and malnutrition being huge issues in various areas of the world, the need for safe and resistant crops is undeniable.
  • Improvements in modern gene editing technologies make such plant genome editing much more precise and safer.
  • It allows the new crops to become more resistant to diseases, as well as counteract the deficit of specific micro-and macronutrients in the diet.
Reference: Ma, X., Mau M., Sharbel T. F. (February 2018). Genome Editing for Global Food Security. Trends in Biotechnology, 2018, V. 36, Issue 2, pp. 123-127. Link.

16. Discovering the secrets of the Bcl2 family: Bcl-2 on the brink of breakthroughs in cancer treatment.

VenetoclaxBcl-2 and related proteins play a crucial role in inducing cell death and cellular differentiation.

  • This protein is also a key component in the development of some cancers, especially certain types of lymphomas and leukemias.
  • The extensive research devoted to this class of proteins has led to the development of a specific Bcl-2 inhibitor – venetoclax.
  • This agent can help patients with certain types of chronic lymphocytic leukemia.
  • The drug development would certainly not stop there – other members of this family are also potential drug targets which significantly help in cancer treatment.
Reference: Reed, J. C. (11 December 2017) Bcl-2 on the brink of breakthroughs in cancer treatment. Cell Death and Differentiation, 2018, V. 25, pp. 3–6. Link.

17. Knowing what makes bacteria tick: using bacterial machinery to manipulate them.

Bacterial cellsCRISPR-Cas9 machinery has developed in bacteria as a defense mechanism against viruses.

  • Having discovered these systems, the scientists now turn the bacterial machinery against the creators themselves.
  • As scientists find more new proteins in this family, they also develop novel protocols that allow effective manipulation of metabolism in bacterial cells.
  • Previously, mainly E. coli was the beloved model of such engineering. Now, with novel systems, the scientists can turn more bacterial species into cell factories, including Clostridia spp., Bacilli spp., Streptomycetes spp., and even Cyanobacteria.
  • As each type of bacterial cell can produce its own substances, endless possibilities are opening up in biotech.
Reference: Mougiakos, I. et al. (April 2018). Hijacking CRISPR-Cas for high-throughput bacterial metabolic engineering: advances and prospects. Current Opinion in Biotechnology, 2018, V. 50, pp. 146-157. Link.

18. A novel editing protocol: Electroporation of mice zygotes with dual guide RNA/Cas9 complexes for cloning-free genome editing.

Gene editingGene editing in mice is a convenient tool for studying the role of specific genes in mutations in health and disease.

  • Until recently, this process involved multiple steps including oocyte microinjections.
  • Texeira et al., proposed a much more simplified and direct approach using ribonucleotide complexes containing Cas9 and guide RNA.
  • This approach avoids unnecessary damage to the cell and allows the generation of deletions in target genes in mouse zygotes.
Reference: Teixeira, M. et al. (11 January 2018). Electroporation of mice zygotes with dual guide RNA/Cas9 complexes for simple and efficient cloning-free genome editing. Scientific Reports, 2018, V. 8, Article number: 474. Link.

19. Turning the tables: converting bacterial ammo to antibacterial mines.

Staphylococcus aureusStaphylococcus aureus is a common bacterial agent that becomes resistant to multiple antibiotics and even bacteriophages.

  • As common treatments are becoming ineffective, G.Ram and his colleagues propose a novel method. Their team has engineered a common bacterial structure – pathogenicity islands.
  • The editing has turned them from toxin-producing factories into so-called antibacterial drones. Once the drone-carrying bacteria are introduced into the bacterial population, the drones destroy the intact bacterial cells.
  • The efficacy of the approach was proven in mice. Mice injected with bacteria that contain bactericidal drones survived a lethal S. aureus infection.
Reference: Ram, G. et al. (24 September 2018). Conversion of staphylococcal pathogenicity islands to CRISPR-carrying antibacterial agents that cure infections in mice. Nature Biotechnology, 2018, V. 36, pp. 971–976. Link.

20. Playing with chromosomes: How chromosome fusion drives evolution.

ChromosomesEach species has its own chromosome number, and unbalanced changes to this species-specific number can lead to disorders.

  • Chromosome fusion, on the other hand, is not so disastrous. The team of scientists has taken yeast cells that typically contain 16 chromosomes and created lines that contained 8, 4 or 2 fused chromosomes instead, using CRISPR.
  • It was found that the organisms with fused chromosomes could function normally, but yeast cells with different chromosome numbers could not produce viable spores.
  • This experiment has shown that chromosome fusion can also become a reason for the reproductive isolation of the population and new species development.
Reference: Luo, J. et al. (1 August 2018) Karyotype engineering by chromosome fusion leads to reproductive isolation in yeast. Nature, 2018, V. 550, pp. 392–396. Link.

21. Combining 16 into one: Creating a functional single-chromosome yeast.

Yeast Chromosome

With the use of genome editing toolkit, Y.Shao and colleagues have managed to merge 16 chromosomes of the yeast Saccharomyces cerevisiae into a single chromosome.

  • Though the overall chromosome structure was considerably changed, the yeast cells with such chromosomes could maintain regular activity, but could not survive in certain environments.
  • This experiment offers a novel way to study the evolution of eukaryotic genomes.
Reference: Shao, Y. et al. (August 1, 2018). Creating a functional single-chromosome yeast. Nature, 2018, V. 560, pp. 331–335. Link.

22. A universal master: CRISPR applications continue to grow in number and variety.

CRISPR applicationsThe last several years were undoubtedly the CRISPR-CAS9 period. This system, used by bacteria and archaea as protection against viruses, is now the most advanced tool for gene editing since the 1970s.

  • The scientist race to produce more effective, smaller and specific editing systems. With the increased specificity and flexibility, novel applications of the system regularly appear.
  • Besides inducing mutations and introducing new sequences, this toolkit is now used for:
    • introducing novel stop codons;
    • manipulating gene expression;
    • visualizing chromatin changes;
    • modulating the epigenetic changes to the genome;
    • screening multiple genes at the same time, using some guide RNAs.

Though enormous progress has been made in this field, developing appropriate and safe vectors for delivery of the systems remains a problem. It is quite likely that the next few years would probably be devoted to their development and improvement.

Reference: Adli, M. (May 15, 2018). The CRISPR tool kit for genome editing and beyond. Nature Communications, 2018, V. 9, Article number: 1911. Link.

23. Gene editing against hepatitis viruses: CRISPR/Cas-mediated gene editing to treat infections with hepatitis B & C viruses.

Hepatitis VirusHepatitis B and C viruses can cause cirrhosis and hepatocellular carcinoma.

  • One of the mechanisms that help them resist available treatment is the formation of cccDNA during viral replication.
  • The discovery of CRISPR/Cas9 systems has provided the researchers with a tool that can destroy it. For instance, a CRISPR/Cas9 system isolated from Francisella novicida was able to destroy the HCV virus, including its cccDNA form, in the culture of HCV-infected cells.
  • The approach can’t be translated to human treatment, as it is not yet clear how the editing proteins are to be delivered into the infected cells.
Reference: Moyo, B. (January 15, 2018). Advances with using CRISPR/Cas-mediated gene editing to treat infections with hepatitis B virus and hepatitis C virus. Virus research, 2018, V. 244, pp. 311-320. Link.

24. Taking care of the motor neurons: novel gene-based treatments for spinal muscular atrophy.

Spinal muscular atrophySpinal muscular atrophy is a disease of the motor caused by a mutation in the SMN1 gene that produces a protein crucial for normal activity of motor neurons.

  • With genetic mechanism known, it has become possible to control the SMN protein production.
  • One of the most promising treatment strategies involves using neuron-specific adeno-associated vector, AAV9 that carries the correct SMN1 gene and can replace the mutated gene in the motor neurons.
  • The vector was already tested in mice and brought considerable improvement. As the experiments were successful, clinical trials in infants with SMA are currently being initiated.
Reference: Sumner, C. J., T. O. Crawford. (July 9, 2018). Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain. The Journal of clinical investigation, 2018, V. 128, № 8, pp. 3219-3227. Link.

25. Gene editing holds the promise of treatment for an orphan brain disorder.

Orphan brain disorderRett syndrome is a genetic disorder of the brain associated with mutations in the X-linked MECP2 gene.

  • The patients usually have smaller brain size and a variety of other symptoms depending on the level of X-chromosome inactivation.
  • The treatment of this syndrome is complicated. Due to the progress in gene editing technologies, there are two potentially successful strategies – targeted inactivation of the X-chromosome carrying the mutated gene, and targeted editing of the mutated gene using the CRISPR/Cas system.
  • Both treatments are expected to be most effective in infants and younger children, as the mutation influences the size of the brain.
Reference: Clarke, A.J.,A.P.A.Sheikh. (April 2, 2018). A perspective on “cure” for Rett syndrome. Orphanet Journal of Rare Diseases, 2018, V.13, P.44. Link.

Suggested Reading: Top Genetics News in 2017

As novel methods of genome manipulation are being developed, we may expect even more exciting reports in 2019! Let us eagerly await them!

Do you know of another important breakthroughs in Genetics for 2018 which are not listed above, share them in the comments section below!

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APA7MLA8Chicago (2024, February 22). Top 25 Most Recent Genetic Discoveries in 2018. Bio Explorer. "Top 25 Most Recent Genetic Discoveries in 2018" Bio Explorer, 22 February 2024, "Top 25 Most Recent Genetic Discoveries in 2018" Bio Explorer, February 22 2024.


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