Since this world-altering discovery, many more have followed that have helped us uncover the key to all biological life, to cure diseases and even create novel species. Below, is a small selection of some of the greatest discoveries in DNA in 2022, we hope you enjoy reading about them as much as we did!

2022 Discoveries in DNA

Fully Finished Genomes

When the Human Genome Project first launched, one 10th of the human genome remained a complete mystery. Once the first section of the genome was released in 2013 (named GRCh38), it was a valuable tool in assisting with genetic research and discoveries, but it was still incomplete. The first methods developed to determine genome sequences were very accurate, but only produced very short reads.

Since then, Karen Miga (from the University of Columbia) and Adam Philippy (from the National Human Genome Research Institute in Bethesda) created the Telomere-to-Telomere (T2T) consortium which aimed to solve the remaining human genome mystery.

The project was finally completed last May, when the remaining 200 million base pairs were added to the sequence. However the research groups are not stopping there, they aim to keep going and produce a full telomere-to-telomere sequence for every vertebrate species on Earth (telomeres lie at the beginning and end of a chromosome).

The finished human genome project has resulted in long-read sequencing technologies which have completely revolutionised the way things are done.  These techniques can now read up to tens or hundreds of thousands of bases in a single read.


More Precise Genetic Manipulation

CRISPR-Cas9 is one of the biggest biological DNA discoveries of the last decade. The process includes cutting out a section of DNA and allowing the natural DNA process to repair the structure. While an amazing tool, it is more effective for genome inactivation than it is for genome editing. This is down to the fact that the cells own personal repair system is not always accurate even if the cutting of the gene by the Cas9 enzyme is accurate. The final strand of DNA is then often full of insertions and deletions.

Most genetic diseases will require the gene to be corrected to the fully functioning version of that gene. This year a chemical biologist, at Harvard University in Cambridge has developed a method of doing just that.

The method has adapted the Cas9 enzyme in such a way that it can now insert specific base-pairs. The methods devised are still very much in their infancy, but some teams have shown that they can achieve up to 16% efficiency using prime editing to correct retinal gene mutations in mice. 16% may not sound like a lot, but it’s proven that if you can replace a gene at levels of between 1% and 10%, you can rescue the disease.


Targeted Genetic Therapies

Gene-based therapies are already making a big impact in clinics as a result of discoveries in DNA. However, there are limitations surrounding the tissues in which they can be applied. The method generally requires local administration to the affected cells, which requires cells to be taken from the patient in the affected area.

Extracting these cells can be challenging. The human body is, by default, programmed to attack foreign information. So, researchers are working closely to create methods to ferry the DNA into the body without it being attacked by the immune system and without it affecting any non-target tissues.

One possible solution is using adapted adenoviruses, which contain tissue-specific gene promoters, to enable specific delivery to organs. These, however, can be challenging to manufacture on a large scale and sometimes result in a triggered immune response.

Lipid nanoparticles are another non-viral alternative which can effectively target cells in tissues such as the lung or spleen. Beam Therapeutics and Intellia, companies in Cambridge, are both designing formulations involving lipid nanoparticles which have shown great success in blood and immune cell precursors in bone marrow. This incredible therapy has the potential to spare cancer patients from the severe side effects and lifestyle hardships caused by chemotherapy.

Since the first discovery of DNA structure in 1952, we have seen lots of progress and developments in molecular biology, genetics, and biotechnology. The discoveries in DNA have led to all manner of advances and research in various areas of gene biology, including personalised medicine, prenatal genetics and bioengineering. We can’t wait to see what more is to come over the coming years!