8 major events in the genetics field in 2017

8 major events in the genetics field in 2017

In 2017, gene technology has achieved extensive advancements. In this article, I am going to discuss 8 major events happened this year.

1. The first human genetic modification therapy was officially launched

Brian Madeux, suffering from a rare condition called Hunter Syndrome, has all eyes fixed on him in 2017. He is the first patient received the human genetic modification therapy in the history. Patients with Hunter Syndrome normally lack IDS enzymes, leading to the accumulation of toxic metabolites that should have been degraded and causing devastating effects on the heart, bone, brain, and other organs. Many of them leave the world before they become adults.

The SB-913, brought by Sangamo, is an innovative gene therapy that uses Sangamo’s zinc finger nuclease (ZFN) genome editing technology to insert the correct gene into a specific site in the genome. To limit the action to hepatocytes, AAV vectors are used to deliver ZFN and the correct gene to the right location. Once coming to the liver, ZFN can initiate its function, recognizing, binding, and cutting off specific sites in the albumin gene. Then using cell’s innate DNA repair mechanisms, hepatocytes can insert the gene encoding normal IDS into this site.

The researchers said that as long as 1% of the liver cells can be genetically modified, the enzyme produced is enough to control the disease.

2. Epoch! The first-time human can control the DNA replication rate to kill cancer!

On November 10th, researchers from the University of Copenhagen in Denmark has published an article entitled “Redox-sensitive alteration of replisome architecture safeguards genome integrity” in Science. In this article, they revealed key proteins that can slow down DNA replication. This is the first time in human history that we can control the DNA replication rate to kill cancer cells.

3. The first anti-aging gene was found! It only exists in a group of mysterious population in the United States; their life expectancy is greatly extended 10%.

For the first time, scientists have discovered a genetic mutation that seems to provide some protections to the body against aging biological processes. And this particular gene exists only in the isolated and modern technology avoided Amish people living in North America, which is rather mysterious.

In a study with 177 people, 43 had this mutation. Finding a single mutation with such a dramatic effect is extraordinary, as aging is one of the most unpredictable biological processes. This mutation leads to telomere lengthening. Telomere is a small hat that protects the chromosomes at the end of the DNA strand. And it often shortens during the aging process. Therefore, researchers predict that the reason of this mutation’s life-enhancing effect may lie within the telomere.

4. The risk of breast cancer gene is no longer just associated with BRCA! A further 72 new genetic variants have been identified.

In 2013, Hollywood actress Angelina Jolie has undergone breast removal to reduce the possibility of breast cancer. This has caused a lot of controversies, and at the same time, brought the breast cancer’s genetic risks to the public attention. Breast cancer is normally caused by a complex interaction between numerous genetic variations and the environment; the BRCA mutation alone does not equal to breast cancer.

Nowadays, a range of genetic variations associated with breast cancer has been revealed. Undoubtedly, it will bring great changes in the prevention of breast cancer. These results are reported by the two leading scientific journals – Nature and Nature Genetics. More than 300 institutes and 550 researchers across the 6 continents are involved. They analyzed a total of 275,000 women’s genetic data, of whom 146,000 were diagnosed with breast cancer.

5. The liquid biopsy is expected to be applied in liver cancer diagnosis

Capital, industry, and academia have long been pegging big hope on the liquid biopsy, especially its application in liver cancer’s early diagnosis.

On October 10th, 2017, the top international academic magazine “Natural Materials” published a groundbreaking new method for the early diagnosis, treatment, and prediction of prognosis of HCC. By detecting the methylation level of specific sites on circulating tumor DNAs (aka ctDNA) from a small amount of blood, researchers were able to reduce the rate of misdiagnosis in liver cancer by more than half. Experts across the spectrum of the healthcare and pharmaceutical industry have taken a strong interest in this novel discovery, as it could help doctors to discover more patients with early liver cancer.

This technology is developed by a team of Chinese and American scientists, led by Ruihua Xu, the dean of Sun Yat-sen University’s Cancer Center, and Kang Zhang, a professor at the University of California, San Diego. They have spent a total of 5 years to complete the project. “Now, the production of the diagnosis kit has been initiated. And its application in the high-risk liver cancer population is expected to begin in mid-October. “Commented by Ruihua Xu.

6. The blueprint of oncogene has completed. It could promote the progress of individualized medical treatment

This year, an article published in Science has mapped out the pathology blueprint associated with all mainstream cancers. It has shown how the differences in each protein’s expression could affect patient’s survival. This is the first time in history that we have a complete view of the association between proteomics and cancers. Undoubtedly, this blueprint will facilitate the development of precision medicine and individualized cancer treatment.
This map was based on an analysis of 17 major cancer types in 8,000 patients, along with patient’s survival data. Using the supercomputer technology, a total of 2.5PB data was analyzed. And over 900,000 viable charts detailing the relationship between the protein, the RNA expression, and the patient clinical survival length was created.

This article has also revealed many important discoveries in cancer biology. First, it found that a number of genes were differentially expressed in cancer tissues, and in most cases, these changes could affect the patient’s survival. In addition, this study also found that the expression of a particular gene in various tumor tissues can be significantly different. The shortening of patient’s longevity is normally accompanied by the increased expression of genes associated with cell division and growth, along with the decreased expression of genes associated with cell differentiation. These data indicated that establishing individualized metabolic models can help to discover the key genes involved in individual’s tumor growth.

7. Chinese scientists rebuild lives

Scientists from Tianjin University, Tsinghua University, and Beijing Genomics Institute have published 4 articles respectively to reveal a series of major breakthroughs in the eukaryotic genome design and chemical synthesis. In these articles, they have accomplished the de novo design and chemical synthesis of four eukaryotic Saccharomyces cerevisiae chromosomes.

8. The latest breakthrough in tumor liquid biopsy

Professor Jian Zhang, from the Bioengineering Department at UCSD, has invented a new cancer detection method, which allows the rapid detection of tumor cells and their locations in the body.

In this study, Professor Zhang and his team discovered a new biomarker in the blood that not only enables the accurate detection of a very small number of cancer cells, but also identifies the source of cancer cells in the tissue. This screening method relies on the methylation of a CpG island as its tag.

This study undoubtedly has a breakthrough significance, as this new combination of ctDNA liquid biopsy and methylation detection in tumors will revise our understanding of the concept of “early cancer screening”. The prospects of this industry are very exciting.

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