The Irresistible Rise of Genomic Medicine

Feb. 6, 2015

By Medical Discovery News


It’s only been 150 years since scientists discovered what we now call DNA. Today, it’s a household word, the basis for the field genomics, and an integral part to multitudes of scientific studies. It’s remarkable how relatively quickly our understanding of genes has progressed.

DNA was first thought to represent the genetic material of living organisms in the 1940s. Doctors Francis Crick and James Watson revealed the double helix structure of DNA in 1953, which is widely considered to be the first revolution in modern biology. In 1977, we first decoded the entire genome of a living organism, a tiny virus that infects bacteria called ФX174. This was the first time we understood all the DNA required to produce a life form. The term genomics was first coined in 1987 to describe the structure and functions of an organism’s entire genetic blueprint.  In 1995, we determined the genome of a free-living organism, a bacterium called Haemophilus influenza, for the first time. The genome of a eukaryotic organism, Baker’s yeast, was first completed in 1996. These early studies provided the novel approaches and advanced technologies that were later used to sequence the human genome, which consists of 3 billion base pairs. The human genome project, the second revolution in modern biology, began in 1990, and was completed in 2003. Since then, the genomes of more than 4,000 other organisms, including the ancient human species Neanderthal and the coffee plant, have been completely determined.

Genomics continues to be a part of the third revolution, convergence, which merges the rigors of computational science and engineering with modern biology. It cost $1 billion and took eight years to complete the sequence of the first human genome. Now, the cost of sequencing a human genome is a fraction of that at $2,000-$4,000 and takes a mere 1-3 days to complete. More than 2,500 human genomes have been sequenced from 26 distinct populations, and 100 million genetic variations have been discovered from these human samples so far. These variations are part of what make us each unique as people, but they can also reveal why we might be experiencing or have susceptibility to disease.

This is where genomic medicine comes in. Dr. Eric Green, the director of the National Human Genome Research Institute at the National Institutes of Health, says there are multiple studies with great promise in this emerging field. For example, cancer genomics has been used to determine the DNA sequence of tumor cells, which can help identify the type of cancer cells in a tumor and the cause of the cancer. That information can then be used to direct the type of treatment that would be the most effective for each individual, creating a personalized approach to medicine. A person’s DNA sequence may also disclose what pharmaceuticals will work most effectively.

The human genome project advanced our understanding of genetics and heredity. Much research is now focused on genomes and their relation to disease. More recently, scientists are using this newfound knowledge to further the science of medicine.

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The New Revolution: Convergence

By Medical Discovery News

March 24, 2012

The New Revolution: Convergence

Imagine nanoparticles many times smaller than the human cell delivering cancer-fighting drugs directly to tumors, microscopic chips that can detect cancer cells roaming the blood stream, or super-fast lasers diagnosing eye diseases that are tough to detect and cause blindness. These discoveries are possible through an innovative approach transforming science called convergence.

Convergence is the coming together of diverse disciplines – from basic biochemistry and cell biology to computer science and engineering. The result is a completely new way of thinking by taking strengths from each specialty and creating innovative products and medical treatments.

A prime example of this integrated approach is seen at the Massachusettes Institute of Technology, which arguably leads the convergence revolution. An award-winning materials engineer from the institute is working with the school’s cancer scientists. Together, they’re developing a virus that can build microscopic electronic parts. This virus produced wiring that could provide the circuitry and power for implantable medical devices in the future.

This is just one of many pairings or teams that share not only their expertise, but workspace. Engineers and biologists are placed together on each of the seven floors of a research building so that they can bump into one another. Increasingly, universities across the country are rethinking their organizational structure to mirror this integrated approach to research.

Scientists call convergence the third revolution in modern biology, just as profound as the first revolution when DNA’s structure was discovered almost 60 years ago. It launched the field of molecular biology, expanded the understanding of cell biology, and started the commercial biotechnology industry. Just think of technologies like polymerase chain reaction, often featured in TV shows such as “CSI” for the crimes it helps solve. This technology can also diagnose infectious diseases and even cancer.

The second revolution, just 10 years ago, came with the complete sequencing of the human genome. Armed with this new knowledge, scientists cleared up or solved mysteries in basic biology and disease. They developed new applications in gene therapy, bioinformatics and systems biology to manage previously untreatable diseases.

Now with convergence, scientists believe discoveries will be accelerated, not just in medical science but in solving future food, energy, and security needs. At the University of Texas Medical Branch in Galveston, microbiologists are already working with biomedical engineers and physical scientists to develop miniature devices to detect the Ebola virus and other microbes that could be used for bioterrorism. Elsewhere, scientists and engineers are harnessing single cell algae as factories to produce biodiesel.

What people may not realize is the economic payoff of these innovations. The $23 billion spent on biomedical research in 2007, most of which is done in universities, led to more than $50 billion in goods and services. In the past 30 years, the US government’s investment of $44 per person annually in research funding has lengthened the average life expectancy of Americans by six years.

With proper funding, scientists believe the convergence of life, engineering and physical sciences will create countless opportunities to improve lives around the world. It is a change that has already begun and will be exciting to watch.

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