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In the old days medicine relied on supernatural beliefs. Modern medicine didn’t get its real start during the 19th century after the invention of the microscope.

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pictures an music slide show of early medical techiniques

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Dive into the unexpected Cash Machine of Genetics,and submerge into the lucrative research field.

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Recent advances in genetic science are remarkable. In 2003 the first full human genome was sequenced after 13 years of work at a cost of over $3 billion. Today, the cost to sequence any individual's entire genome is approaching $1,000. Genetic tests for specific genes linked to cancer and other diseases exist today and many more are being developed. We hear of a new era of "personalized medicine" in which drugs and therapies will be prescribed based on the individual patient's specific genes.

All of this may seem to have little direct relevance to companies outside of biotechnology. However, the development of genetic knowledge and technology already has spawned new laws, regulations and patent uncertainties that impact almost all businesses in some way.

Privacy and Nondiscrimination. The federal Genetic Information Nondiscrimination Act of 2008 ( GINA) represents the most comprehensive effort to date to regulate the use of genetic information. GINA initially only prohibited health insurers and group health plans from using genetic information to deny coverage or set payment rates. Another section, which just became effective in November 2009, affects all private and public employers with more than 15 employees.

GINA now prohibits discrimination against all employees and job applicants based on genetic information, prohibits the use of genetic information in making employment decisions, and strictly limits employer disclosure of genetic information. The EEOC anti-discrimination poster that is required to be displayed by all employers has been updated to include GINA.

A potential compliance trap in GINA is that it also restricts the collection of genetic information by employers. Genetic information includes not only actual genetic test results, but also family medical history that might show links to inheritable diseases. This has raised particular concern around wellness programs, and there is a limited regulatory exception for such employer programs if offered on a voluntary basis and if other specific requirements are met. The regulations are new and there is not yet any substantial enforcement history, so employers should exercise great caution in this area.

Health Care and Research. Health care providers are already very familiar with the Health Insurance Portability and Accountability Act ( HIPAA) requirements of strict privacy protections for "individually identifiable health information," which includes genetic information.

Medical researchers who work with genetic information are often subject to HIPAA and must also comply with the federal " Common Rule" which regulates human subject research. Genetic information has presented some unique regulatory issues for researchers because it can be more difficult to " de-identify " than other health information and it raises complex issues around obtaining the required informed consent of subjects.

Intellectual Property. Fundamental questions are currently unresolved concerning the protection of genetic-related intellectual property - especially patents. The legal and policy arguments about gene patents can be quickly summarized. On one hand, human genes can be considered "products of nature" which by law cannot be patented, and there also may be a basic moral objection to any individual or firm obtaining a patent (which is a legal monopoly) on a human gene. On the other hand, the Patent Office and courts have long allowed patents on genes that are isolated from their natural environment in the body. Gene patent advocates argue that no company will have the necessary economic incentive to develop lifesaving tests and treatments if the intellectual property the company creates-including isolated genes-cannot be protected.

The issue of whether isolated genes are patentable is before the federal courts in the Myriad case, which was organized by the ACLU to challenge Myriad Pharmaceutical's patents on certain breast cancer susceptibility genes. On March 29, 2010 a US District Court granted summary judgment in favor of the ACLU side and invalidated the Myriad patents. This ruling will be appealed to the federal appeals court and the legal battle will continue, perhaps to the Supreme Court. A final ruling is still years away.

Meanwhile, there are other patent cases in the federal courts that may affect a number of businesses, including biotechnology. The Bilski case is at the Supreme Court and deals with the patentability of business methods - specifically, a method of hedging commodities risks. The decision in Bilski may have far-reaching consequences for patents on methods of analysis, data interpretation, and performing certain tasks.

On the regulatory side, an advisory committee to the Department of Health and Human Services has approved recommendations on gene patenting and licensing that have generated heated debate. Stay tuned to see if Congress can long avoid jumping in with new laws that will affect genetics-related intellectual property rights.
Editor's Note: A slightly modified version of this column appeared last Friday in the Charlotte Business Journal.

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The Unexpected Impact of Genetics on the Business World - The Privacy Report

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Recent advances in genetic science are remarkable. In 2003 the first full human genome was sequenced after 13 years of work at a cost of over $3 billion. Today, the cost to sequence any individual's entire genome is approaching $1,000. Genetic tests for specific genes linked to cancer and other diseases exist today and many ...

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Andrey Rzhetsky uses knowledge engineering, him and his team write computer programs that scan the contents of thousands of published scientific papers. He uses a  program called Gene ways which  scans scientific papers and programs

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Andrey Rzhetsky | Knowledge Lab | The University of Chicago

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The explosion of digital information offers an unprecedented opportunity to study the dynamics that shape human understanding, investigation and certainty. Our researchers are developing new Big Data, machine learning and crowd-sourcing approaches and techniques.

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The birth of modern genetics helped to accelerate the study of all science areas. One area being in a focus field called systems biology.  Today's challenge is to make the actions and interactions of all these molecules in a focus field called systems biology.

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Systems biology is based on the understanding that the whole is greater than the sum of the parts.

Systems biology has been responsible for some of the most important developments in the science of human health and environmental sustainability. It is a holistic approach to deciphering the complexity of biological systems that starts from the understanding that the networks that form the whole of living organisms are more than the sum of their parts. It is collaborative, integrating many scientific disciplines - biology, computer science, engineering, bioinformatics, physics and others - to predict how these systems change over time and under varying conditions, and to develop solutions to the world's most pressing health and environmental issues.

This ability to design predictive, multiscale models enables our scientists to discover new biomarkers for disease, stratify patients based on unique genetic profiles, and target drugs and other treatments. Systems biology, ultimately, creates the potential for entirely new kinds of exploration, and drives constant innovation in biology-based technology and computation.

Because systems biology requires constant attention to a very complex, very human social experiment, ISB fosters the kind of financial, social and psychological environment in which the world's best scientists, technologists, engineers and mathematicians can collaborate and do their best work.

Dr. Nitin Baliga, ISB SVP and Director, explains what is systems biology. Watch on YouTube.

SYSTEMS BIOLOGY 101:

ISB's Innovation Engine

A fundamental tenet of systems biology is that solving challenging biological problems always requires the development of new technologies in order to explore new dimension of data space. New data types require novel analytical tools. This virtuous cycle of biology driving technology driving computation can exist only in a cross-disciplinary environment where biologists, chemists, computer scientists, engineers, mathematicians, physicists, physicians and others can come together in teams to tackle grand challenges. This is ISB. And this describes what we call the "innovation engine" (depicted below) that drives our ability to develop intellectual property, which we share through open-access platforms or by spinning out companies.

Cross-disciplinary Teams

In describing systems biology and the distinguishing characteristics of ISB's approach, we always emphasize how our lab groups are intentionally and necessarily cross-disciplinary. One of our labs, for example, includes molecular biologists, microbiologists, geneticists, engineers, oceanographers, and even an astrophysicist. The complexity of biology in this age of "big data" requires diverse teams in order tackle such vast amounts of data and to make sense of it all. New technologies that crunch data faster and more efficiently also permit researchers to re-analyze existing datasets, a process which often reveals undiscovered information. Complementary skills empower any of our groups of researchers to better understand biological or environmental challenges from different perspectives and to arrive at shareable insights more quickly. Our interdisciplinary teams have contributed notable advances to everything from ocean acidification to neurodegenerative diseases and tuberculosis to multiple cancers.

Network of Networks

With networks, we can organize and integrate information at different levels. Social networks have transformed communications in the 21st Century, democratizing our platforms for communications. At ISB we are also concerned with networks. One of the tenets of systems biology we often refer to is the "Network of Networks." On a biological level, our bodies are made up of many networks that are integrated at and communicating on multiple scales. From our genome to the molecules and cells that makeup the organs in our bodies all the way out to ourselves in our world: we are fundamentally a network of networks. Systems biology looks at these networks across scales to integrate behaviors at different levels, to formulate hypotheses for biological function and to provide spatial and temporal insights into dynamical biological changes. It is not enough to understand only one part of a system when studying the complexity of biology. Therefore the framework of the "Network of Networks" provides meaningful insight into understanding how systems biology's approach is different, more integrated and more capable of analyzing and predicting state transitions in biological systems.

Multiscale Modeling

Whether we explicitly recognize it or not, multiscale phenomena are part of our daily lives. We organize our time in days, months and years, as a result of the multiscale dynamics of the solar system. Our society is organized in a hierarchical structure, from towns to states, countries and continents. The human body is a complex machine, with many little parts that work by themselves or with other parts to perform specific functions. Organelles inside each cell in our bodies interact with one another to maintain a healthy functioning cell that moves, differentiates and dies. These subcellular organelles and their processes govern each cell's signalling mechanism to interact with its neighboring cells, and form multi-cellular systems called tissues (e.g. epithelial tissue, muscular tissue). Two or more types of tissues work together to form an organ that performs a specific task (e.g. mouth, stomach, liver). Two or more organs work together to form organ systems, such as the digestive system and the nervous system, that perform more complex tasks. All these organ systems interact with each other to enable a healthy functioning organism. Traditional approaches to modeling real world systems focus on a single scale that imparts a limited understanding of the system. The pace at which biotechnology has grown has enabled us to collect large volumes of data capturing behavior at multiple scales of a biological system. Genetic as well as environmental alterations to the DNA, expression levels of RNAs, expression of genes and synthesis of proteins - all this is measurable now within a matter of days at a rapidly declining cost. So, it is really up to scientists and data analysts to make use of this variety of data types and build integrative models that enable a comprehensive understanding of the system under study. Multiscale models do just that. By integrating models at different scales and allowing flow of information between them, multiscale models describe a system in its entirety, and as such, are intrinsic to the principles of systems biology.

Single Cell Analysis

It is well known that there is no "average" patient. Therefore, in clinical trials encompassing large groups of patients, one needs to consider the characteristics of each patient, including each person's individual genetic propensity to respond to a drug in a particular way. The statistical analysis of population averages suppresses valuable individual-specific information. The consideration of population heterogeneity due to inevitable patient-to-patient variability is called "stratification" and is at the heart of personalized medicine. Such stratification will allow a proper impedance match against appropriate and effective drugs. Each cell in a cell population of apparently identical cells is a distinct individual. There is no "average" cell even within a population of cells of the very same cell type. Just as one can look at individual patients in a population and identify subtypes of diseases, one can identify "quantized" or "discrete" cell-subtypes in a cell population. The quantized subtypes perform different functions and form a network - much like a social network in human populations. So understanding how an organ works will require understanding the coordinated integration of the functioning of all the quantized cell types. Because of such cellular heterogeneity, even the most potent target-selective drug will kill only a fraction of tumor cells - explaining the inexorable drug resistance in malignant tumors. This new insight on cellular heterogeneity calls for the measurement of all molecular profiles in individual cells. Tissues must be seen not as an amorphous mass but analyzed as dynamical populations of cells and at single-cell resolution.

Understanding Proteomics

If DNA is the blueprint for life, then proteins are the bricks. The genes in DNA are translated into proteins, strings of amino acids that fold into three-dimensional structures. The type and order of the amino acids in a protein will change its shape and determine its special function. Proteins are the molecules that make life happen: they are the powerplants that turn food into energy, the machines that make cells move, and even the computers that read DNA and make more proteins. The information to build every protein in an organism is contained in the DNA, but not every protein is produced at once or in the same amount. Think of a cell in your liver and a cell in your retina - both cells contain identical DNA, but very different subsets of proteins are being produced in order to give each cell its special function. Proteomics is the discipline of identifying and quantifying the proteins present in an organism. At ISB, we use state-of-the-art scientific instruments and cutting edge computational techniques to detect thousands of proteins at once, giving us a systems-level view of the molecular machinery of life.

The Value of Family Genomics

The Family Genomics Group at the Institute for Systems Biology is an interdisciplinary group that researches human disease and wellness using next generation whole genome sequencing and computational genomics in the context of family pedigrees. The team is interested in examining the diversity of the human genome over the entirety of the human population. Researchers utilize public genomes, such as those from the Thousand Genomes Project, a carefully curated selection of variants from our private genomes, and compilations of human variation to generate resources that allow them to examine this in further detail. Family genomics is a powerful and precise method for identifying sequencing errors, disease-causing gene mutations and genetic relationships between individuals.

Be at the forefront of profound breakthroughs in human health. Be a part of ISB and the revolution we're proud to have helped cause.
Our progress requires you.

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What Is Systems Biology · Institute for Systems Biology

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What is Systems Biology Systems biology is based on the understanding that the whole is greater than the sum of the parts. Systems biology has been responsible for some of the most important developments in the science of human health and environmental sustainability.

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On the use of computers in human genetics: An introduction

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On the use of computers in human genetics: An introduction

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Here is an article written in 1967. It gives a good history from before then and then it is explained what the future plans are.

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On the use of computers in human genetics: An introduction

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Talks a little about careers in these fields and what qualifications you need

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There has been a huge movement in affordable rapid genome sequencing recently and this will produce massive numbers of new genetic data on individuals, as well as populations. The challenge is now on for a new generation of scientists who are able to combine genetics and bioinformatics in an effort to understand how various genomic changes can cause life-threatening diseases such as cancer.
This will enable the development of new treatments, through combining drug and gene therapy, along with prevention strategies. Due to the expansion in the numbers of individual genomes now being sequenced, you'll find that this is one of the quickest growing areas of biomedical science.

If you are interested in gaining employment as a Healthcare scientist, (sometimes called clinical scientists,) you would be working in genetics, examining samples of DNA in order to help identify genetic abnormalities, which may be responsible for causing inherited diseases. You would also be helping to predict if any abnormal genes may be passed on to the next generation and would be screening people both before and after symptoms have appeared.
What qualifications will I need?
In order to work as a healthcare scientist in genetics, you would need to have successfully completed the NHS Scientist Training Programme (STP), making you eligible to apply for a Certificate of Attainment from the AHCS, (Academy for Healthcare Science). This would then allow you to register as a clinical scientist within the HCPC, (Health & Care Professions Council).

The STP graduate-entry programme will lead you onto more senior scientist roles within the NHS and you could find yourself being employed by one of the NHS Trusts as a trainee healthcare scientist, on a fixed-term training programme in blood/cellular sciences. This would include studying for an accredited Masters' degree in your chosen specialism, which in this instance would be genetics.

Entry is competitive and you need either a first or a 2:1 degree, generally in genetics or a related subject which has a genetic component, (molecular biology or cellular sciences), or a 2:2, along with a relevant Masters or PhD.

Having both good academic results along with relevant work experience would also be helpful to you.

An MSc or a PhD may be advantageous if trying for a trainee position, but is not necessarily a set requirement. However, in practise, many applicants do hold a research Masters or PhD. You may also find that involvement with research projects and publications will be useful.

Entry is possible through gaining a Certificate of Equivalence from the AHCS or via the Association of Clinical Scientists (ACS).

For those who don't have a degree, undergraduate training leading to a BSc (Hons) Healthcare Science (Genetic Science) is provided through the NHS Practitioner Training Programme (PTP).
What would a 'normal' day look like?
Some common tasks while working in genetics could include:

Establishing genotypes, using diagnostic procedures to detect genetic diseases;

Utilising laboratory techniques, including PCR; mutation detection techniques; denaturing HPLC; southern blotting; DNA sequencing and fragment analysis; laser detection of fluorescent dyes.

Compiling reports for clinicians who requested tests and then advising them on suitable investigation strategies.

Interpreting results of routine tests carried out by genetic technologists, (they conduct the vast majority of DNA extraction work)

Developing and devising new investigation strategies

Conducting both research and development and designing new molecular genetics techniques for genetic disease

Communicating clearly and concisely with colleagues and other healthcare professionals

Training colleagues and other healthcare professionals

Supervising genetic technologists and other junior staff

Interpreting data

Updating your own professional skills by reading relevant scientific literature and attending any suitable training courses and conferences

Is there anything else I should expect?

You will need to be able to work as part of a team, which could include medical staff, and genetic counsellors and technologists.

Although jobs are available in many areas, you will find that they are mainly in medium-large hospitals in towns and cities. During training, there may be opportunities to gain experience by working in different hospital laboratories. Willingness to relocate could well increase your chances of progression.

The work is never boring and offers plenty of variation with a choice of research and development (R&D) projects available. You will also gain satisfaction in making a contribution to patient care.

Willingness to travel, (within the local area usually,) is essential as it is more common now to work in more than one place as laboratories merge.

Further Development

Once qualified, it is essential to keep your skills up to date and also to follow any ongoing research developments. You must continue your professional development (CPD) as part of your continuing registration with the HCPC. This may include:

Attending various conferences, workshops and lectures

Writing for journals

The need to present research papers at conferences

If you are interested in working within the Genetics or Genomics sector within STEM - check out the current opportunities that are on our site.

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A career in genetics & genomics | New Scientist Jobs

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There has been a huge movement in affordable rapid genome sequencing recently and this will produce massive numbers of new genetic data on individuals, as well as populations. The challenge is now on for a new generation of scientists who are able to combine genetics and bioinformatics in an effort to understand how various genomic changes can cause life-threatening diseases such as cancer.

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Molecular computer. Shutterstock

DNA is one of the most amazing molecules in nature, providing a way to carry the instructions needed to create almost any lifeform on Earth in a microscopic package. Now scientists are finding ways to push DNA even further, using it not just to store information but to create physical components in a range of biological machines.

Deoxyribonucleic acid or "DNA" carries the genetic information that we, and all living organisms, use to function. It typically comes in the form of the famous double-helix shape, made up of two single-stranded DNA molecules folded into a spiral. Each of these is made up of a series of four different types of molecular component: adenine (A), guanine (G), thymine (T), and cytosine ©.

Genes are made up from different sequences of these building block components, and the order in which they appear in a strand of DNA is what encodes genetic information. But by precisely designing different A,G,T and C sequences, scientists have recently been able to develop new ways of folding DNA into different origami shapes, beyond the conventional double helix.

This approach has opened up new possibilities of using DNA beyond its genetic and biological purpose, turning it into a Lego-like material for building objects that are just a few billionths of a metre in diameter (nanoscale). DNA-based materials are now being used for a variety of applications, ranging from templates for electronic nano-devices, to ways of precisely carrying drugs to diseased cells.

DNA-based nanothermometers

Designing electronic devices that are just nanometres in size opens up all sorts of possible applications but makes it harder to spot defects. As a way of dealing with this, researchers at the University of Montreal have used DNA to create ultrasensitive nanoscale thermometers that could help find minuscule hotspots in nanodevices (which would indicate a defect). They could also be used to monitor the temperature inside living cells.

The nanothermometers are made using loops of DNA that act as switches, folding or unfolding in response to temperature changes. This movement can be detected by attaching optical probes to the DNA. The researchers now want to build these nanothermometers into larger DNA devices that can work inside the human body.

Biological nanorobots

Researchers at Harvard Medical School have used DNA to design and build a nanosized robot that acts as a drug delivery vehicle to target specific cells. The nanorobot comes in the form of an open barrel made of DNA, whose two halves are connected by a hinge held shut by special DNA handles. These handles can recognise combinations of specific proteins present on the surface of cells, including ones associated with diseases.

When the robot comes into contact with the right cells, it opens the container and delivers its cargo. When applied to a mixture of healthy and cancerous human blood cells, these robots showed the ability to target and kill half of the cancer cells, while the healthy cells were left unharmed.

Campbell Strong, Shawn Douglas, & Gaël McGill

Bio-computers in living animals

Because DNA structures can act as switches, moving from one position to another and back again, they can be used to perform the logical operations that make computer calculations possible. Researchers at Harvard and Bar-Ilan University in Israel have used this principle to build different nanoscale robots that can interact with each other, using their DNA switches to react to and produce different signals.

What's more, the scientists implanted the robots into a living animal, in this instance a cockroach. This allowed them to develop a novel type of biological computer that can control the delivery of therapeutic molecules inside the cockroach by switching elements of their structure "on" or "off". A trial of these DNA nanorobots is now scheduled to take place in humans.

Light-harvesting antennas

As well as creating minuscule machines, DNA can provide a way for us to copy natural processes at the nanoscale. For example, nature can capture energy from the sun using photosynthesis to convert light into chemical energy, which acts as fuel for plants and other organisms (and the animals that eat them). Researchers at Arizona State University and the University of British Columbia have now built a three-arm DNA structure that can capture and transfer light that mimics this process.

Photosynthesis occurs in living organisms thanks to tiny antennas made up of a large number of pigment molecules at specific orientations and distances from each other, which are able to absorb visible light. The artificial DNA-based structures act as similar antennas, controlling the position of specific dye molecules that absorb the light energy and channel it to a reaction centre where it is converted into chemical energy. This work could pave the way for devices capable of more efficiently using the most abundant source of energy we have at our disposal: sunlight.

So what's next for DNA nanotechnology? It is hard to know but, with DNA, nature has given us a very versatile tool. It is now up to us to make the best use of it.

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From living computers to nano-robots: how we're taking DNA beyond genetics

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DNA is one of the most amazing molecules in nature, providing a way to carry the instructions needed to create almost any lifeform on Earth in a microscopic package. Now scientists are finding ways to push DNA even further, using it not just to store information but to create physical components in a range of biological machines.