Human genome: The future of the oncology Clinical Trials

Latest scientific discoveries in the field of Human Genome Research and its application in Oncology Clinical Trials

What's best to talk about in the month when we celebrate World DNA Day, if not the latest scientific discoveries in Human DNA and the human genome. Moreover, 2022 marks the 200th anniversary of Gregor Mendel's birth – the person who placed the foundations of leading principles in genetic inheritance.

Until recently, there were many unknowns about the human genome, and thankfully to the persistent and hard work of the scientists, now we are capable of saying that the missing gaps are revealed.

This article aims to present to you the latest significant findings and innovations in the field of human DNA and the entire human genome. Moreover, why are genomic discoveries so important nowadays, and their application in Oncology Clinical Trials? Clinical Trials are a significant step in the drug development process to learn about the safety and efficacy of investigative therapies. Clinical studies allow researchers to have the proper environment to explore and understand how human genes function. The latest research on the Human Genome does not simply open new prospects – it creates paths for innovative treatments and methods for faster and more accurate diagnosis of Oncology Patients.

Starting with the Human Genome Project in 1990, it was challenging for the researchers to fill the missing gaps in human DNA and completely understand repetitive regions in the genome. This was because the sequencing technologies back then were limited to reading only about 500 nucleotides at a time. Therefore, these short fragments had to overlap one another so they could recreate the entire sequence.

This method undoubtedly turned out to be insufficient and time-consuming and left many question marks behind.

Then, in May 2021, the Telomere-to-Telomere Consortium announced that all remaining gaps were finally filled. The work of the International Consortium of scientists improved the sequencing technology and consequently made it possible to read longer sequences of nucleotides. That is how long-read sequences made it achievable to assemble large repetitive regions and complete a human genome for the first time.

The Telomere-to-Telomere Consortium presents a complete 3.055 billion based pair sequence of a human genome T2T-CHM13, which includes entire assemblies for all chromosomes, excluding Y, introduced updated in the so-far applied references and announced about 200 million base pairs of sequences containing 1956 gene predictions. The completed regions include all centromeric satellite arrays, recent segmental duplications, and the short arms of all five acrocentric chromosomes. These discoveries brought a whole new understanding of Cancer diseases. In addition, genomic testing of Cancer itself allows the scientists to study the DNA profile of each Patient`s Cancer. Afterwards, choose the most appropriate drug therapy for the individual.

Having the technological barrier removed, it is now possible for scientists to enlarge and lead more comprehensive Cancer studies. The opportunity to conduct Preclinical and Clinical Cancer Trials investigating the genomic variations across the entire human genome gives high expectations for extracting valuable scientific data regarding genetic diseases such as Cancer.

This year another important genome-editing tool that makes 10 years of its major breakout from 2012 is CRISPR (Clustered Regularly Interspaced Short Palindromic Repeat). CRISPR sequences were initially discovered in the E. coli genome in 1987. However, in 2012 scientists revealed that using this unique technology, it is possible to edit parts of the genome by removing, adding or altering sections of the DNA sequences. Researchers are using CRISPR to correct gene mutations that might, at some point, lead to disease. Moreover, not only that scientists are able to do that, but CRISPR is a lot easier and faster to use and the most precise gene-editing tool that gives numerous options for customization. Last but not least, expenses over the usage of the CRISPR genome tool are significantly lower compared to all the currently existing methods.

Having the advantages of CRISPR, many Clinical Trials have been conducted in the past few years. Including diseases such as diabetes and HIV/AIDS. More Clinical Trials are to be done in treatment areas like blood disorders, inherited eye diseases, infectious diseases, inflammatory diseases and protein-folding disorders. Moreover, as this article points into the area of Oncology, the development of the CRISPR genome editing technique opens up new possibilities for Patients with Cancer. CRISPR is becoming the main tool in many Cancer studies because of the unique benefits of its technique.

Current CRISPR-based therapies mainly aim to treat Cancers like Leukemia and Lymphoma.

However, there are studies conducted with Patients diagnosed with Lung cancer applying CRISPR-based immunotherapy. Each study involving CRISPR aims to determine if the treatment is safe and has acceptable side effects, not to cure Patients.

The researchers also use CRISPR to detect specific targets, such as DNA from Cancer-causing viruses and RNA from cancerous cells.

The first Clinical Trial of CRISPR for Cancer was launched in 2019. Three people participated – two of the Patients were diagnosed with advanced multiple myeloma and one with metastatic sarcoma. The main goal of this study was to find out if the CRISPR-made treatment was safe. The Trial was investigating a type of immunotherapy in which Patients' own immune cells are genetically modified and therefore improve the cell's ability to recognise and kill cancer. Then CRISPR was applied to remove three genes. At the end of the Trial, the outcome showed that two of the Patients' tumours (one with multiple myeloma and one with sarcoma) stopped growing. Unfortunately, later on, tumours started growing again. There was no improvement in the third Patient.

Although CRISPR contributes enormously to the development of cancer treatment and diagnosis, there is more to be researched for the possible side effects and long-term benefits of its usage. Other Clinical Trials of CRISPR-made Cancer treatments are to be conducted in the following years. One, for example, is another type of immunotherapy – CRISPR created CAR T-cell therapy.

Considering all the recent discoveries, scientists are excited to see what more is about to come in 2022 in the human genome and DNA research field. Along with the persistent investigations of the researchers are the constant improvements of all gene technologies applied in Clinical Trials.

If you want to learn more about what solutions we can offer in conducting Clinical Trials or you want to cooperate with us – visit our website.

Sources:

• https://theconversation.com/the-human-genome-project-pieced-together-only-92-of-the-dna-now-scientists-have-finally-filled-in-the-remaining-8-176138

• https://www.science.org/doi/10.1126/science.abj6987

• https://www.genome.gov/Clinical-Research/Current-NHGRI-Clinical-Studies

• https://www.genome.gov/research-at-nhgri/Clinical-Research

• https://www.clinicaltrials.gov/ct2/show/NCT03505879?cond=Lyme+disease+DNA&draw=2&rank=1

• https://www.nature.com/articles/d41586-022-00008-7

• https://www.addgene.org/crispr/history/

• https://innovativegenomics.org/news/crispr-clinical-trials-2022/