"If we can detect Alzheimer's dementia early through blood tests, early treatment will also be possible. By decoding the genes, we can know not only whether the disease will occur but also if there are mutations and what treatments are needed."
On the 5th, David Klenerman, 65, a professor at the University of Cambridge's Department of Chemistry and Dementia Research Institute, said, "Currently, there are only antibody treatments that slow the progression of Alzheimer's disease, but I hope that with early diagnosis, we will be able to develop new treatments to prevent the disease before losing brain function."
Gene decoding is the process of determining the order of the four types of bases that make up DNA. Organisms synthesize proteins in that order, governing all biological phenomena. Professor Klenerman has developed the 'next-generation sequencing' (NGS) technology, bringing revolutionary advancements to life sciences.
In 2003, the Human Genome Project completed a genome map that revealed all 3 billion pairs of human bases. A total of $30 billion (4.33 trillion won) was invested over 13 years to complete humanity's first genome map, but now, thanks to NGS technology, the cost has been reduced to $200 (290,000 won). The era of popularizing gene decoding has begun.
In the early 2000s, Professor Klenerman and his colleague Shankar Balasubramanian were the first to develop the NGS analysis method. The Solexa company they founded for the commercialization of this technology was acquired by Illumina in 2007. Currently, Illumina holds about 90% of the global gene decoding market with NGS technology.
Professor Klenerman noted, "As a physicist, I became fascinated by molecular fluorescence technology, which attaches fluorescent substances to the genetic materials DNA and RNA to read changes, and through experimentation, I developed NGS technology. This was not aimed at developing NGS, but rather research driven by simple curiosity led to the birth of NGS."
The difference in technology lies in how the base sequences are read. The Human Genome Project created copies of varying lengths by amplifying strands of DNA, coloring the ends of each copy with different fluorescent colors. The sequence was decoded by reading this fluorescence in order. On the other hand, NGS divides DNA into small pieces, decodes them simultaneously, and then combines vast genetic information quickly using bioinformatics techniques.
Professor Klenerman stated that the experience of developing NGS proves the importance of investing in basic science. He mentioned, "The foundational research of NGS technology started with a small government subsidy from the UK Biotechnology and Biological Sciences Research Council, but substantial development was made possible thanks to venture capital funding. We succeeded in development with an investment of $300 million (434 billion won) and the $650 million (940 billion won) we secured from selling Solexa to Illumina."
Currently, he is using NGS to study the causes of degenerative diseases, such as Alzheimer's and Parkinson's. In the brains of individuals who have begun to develop Alzheimer's disease, small aggregates of amyloid beta (Aβ) protein are found. Professor Klenerman said, "In patients with Parkinson's disease, aggregates of the protein alpha-synuclein (α-Syn) form in the cerebrospinal fluid."
The research team at the University of Cambridge is analyzing how these aggregates change over time and how the neurons in the brain change as the size of these aggregates increases. Professor Klenerman stated that if these characteristics are identified through NGS, blood tests to select degenerative disease onset factors could become possible. At the same time, early treatment can be provided accordingly.
Professor Klenerman and Balasubramanian have been mentioned as candidates for the Nobel Prize in Chemistry since 2015. Especially since the COVID-19 pandemic, they have been evaluated annually as strong candidates. In 2022, they received the Breakthrough Prize in Life Sciences, often referred to as the 'Silicon Valley Nobel Prize,' for their contributions to the development of NGS. This award has a prize of $3 million (about 430 million won), more than double that of the Nobel Prize.
The Breakthrough Prize Foundation stated that, "Without NGS technology, rapid COVID diagnosis, vaccine development, and tracking of variant viruses would have been impossible." Coincidentally, Drew Weissman of the University of Pennsylvania, who developed the foundational technology for the COVID mRNA vaccine, and Katalin Karikó, vice president of BioNTech in Germany, also received the Breakthrough Prize. They won the Nobel Prize in Chemistry the following year.
Scientists believe that Professor Klenerman’s Nobel Prize win is only a matter of time. Still, he waved his hand and said, "We are just researchers who conduct numerous experiments and, if lucky, publish papers with amazing discoveries; awards are merely a bonus."
He requested that junior scientists also become diligent researchers who conduct experiments. Professor Klenerman commented, "There are indeed lucky instances where one makes an incredible discovery just by accidentally misplacing the concentration of reagents, but for the most part, it’s difficult to achieve results at once. It’s essential to figure out why something doesn't work after trying one method, and then persist until discovering the answer by trying another method."