The current Big Data revolution, which is characterized by computers being able to store and analyze large amounts of data, has facilitated research in a number of fields - especially in the “-omics”.
Proteomics
Proteomics is the study of the structure and function of all the proteins in an organism. It is important in medicine because it provides the link between genes, proteins and disease. However, studying the proteome (the sum of all proteins in the body) poses obstacles because of it’s shear size - for every gene in the human body there can be anywhere from 10 to 1000 proteins.
Functional Genomics
Functional genomics is the study of the entire gene, proteins and their interactions. The study focuses on the interactions of a number of genes and proteins unders different environments. Functional genomics is necessary to identify cancerous cells and tumor suppressors in cancer studies. Knowing the function and interaction of these cells can expedite the process of finding effective treatment.
Computational Biology
The NIH Biomedical Information Science and the Technology Initiative Consortium define Computational Biology as “the development and application of data -analytical and theoretical methods, mathematical modeling and computational simulation techniques to the study of biology, behavior, and social systems.” Researchers who focus on computational biology work at the intersection of biology and computer science and are applying their work to medicine. The MIT Computational Biology Group is currently working on a number of projects related to genomics.
Sometimes it’s fun to be on the ground floor of something big.
That’s how I felt while attending the first Neurogaming conference created by Zack Lynch, where over 300 diverse professionals from 5 continents gathered at the Yetizen Innovation Lab. The quirky room was abuzz with an eclectic mix of conversations coming from academics, gaming professionals, neuroscientists, healthcare providers, educators, defense experts, sport scientists and others all hoping to apply neurogamingto their work.
What is neurogaming?
Zack Lynch, defined neurogaming as “where the mind and body meet to play games.”
Therapeutic Applications
Given my recent research into cognitive games and fitness, the most intriguing aspects of this new technology to me, are the therapeutic possibilities. Can enhanced biofeedback and neurofeedback improve A.D.D. and other conditions without the use of drugs? Stay tuned for my upcoming research.
Other discussions about designing for engagement, BJ Fogg’s behavior change model, intrinsic versus extrinsic rewards, made me feel right at home, as I am preparing for my Games for Health presentation on “What’s Working in Mobile Social Games and Analytics.”
I have been thinking about how the technology will deepen the immersive experience and wondering when patients sharing their stories will become mainstream in healthcare. Use of the Oculus Rift may improve the immersive experience in psychology.
Right now, there are trials using Oculus Rift prototypes which have shown significant improvement in PTSD patients and in overcoming phobias.
What other aspects of behavioral health can be improved with neurogaming technology like Oculus Rift?
In the bigger picture, what does neurogaming mean for the emerging digital health ecosystem?
Fecal transplants, also known as fecal microbiota transplants (FMT), may be a cure to the 14,000 deaths per year from Clostridium difficile (C. difficile). They are a quick and inexpensive outpatient procedure with a 90% cure rate. Gastrointestinologist Sahil Khanna from theMayo Clinicexpands on the procedure, “normal bacteria gets destroyed every time you get an infection and are treated for it. When a transplant is done, you are given someone else’s healthy bacteria, and it’s from a person who has been screened for infections in the blood and stool. The donor can be from the family or outside the family.”
Fecal Transplants and the FDA
TheFDA does not entirely supportthe procedure, so doctors were labeling it clinical practice, so that they could treat patients. However, recently the FDA has cracked down on the procedure requiring more paperwork, including an “investigational new drug application” and a longer waiting period of 30 days, before doctors can perform a fecal transplant. Even then, after all the paperwork and waiting, approval for the procedure is not guaranteed.
Success Stories
Fecal transplants have been around for over 500 years to treat animals and over 50 years to treat humans with different strains of colitis.
One of the most remarkable recent success stories is Jesse, the youngest patient to recieve the transplant. At just 20 months, Jesse suffered from C. difficile. After nine months of countless antibiotics which did nothing to help the toddler, doctors told mother Tatum that there was one last hope to save her son; a fecal transplant. Tatum consented to the procedure without hesitation and Jesse became the youngest person to be cured by the transplant.
The Huffington Post offers a number of similar success stories and more explanation on the FDA controversy.
The transplants are also making headway in Europe where there are less restrictions on medical practices.
There are trillions of bacteria that make up the human microbiome. How do scientists study all the bacteria, their interactions and their effect on disease?
What is Metagenomics?
Metagenomics is a rapidly growing field of research that focuses on the study of the microbiome and overcoming the difficulties of sequencing and analyzing a vast array of bacteria.
The Microbiome Project is collecting cultures in five areas of the human body- the nose, the mouth, the skin, the GI tract and the urogenital track- while attempting to determine if everyone has the same fundamental microbes in their microbiome. The process used today includes extraction from a specific area of the body, analysis of genetic make up through sequencing, then transplantation into other host cells in petri dishes to study the interaction of the microbes under a certain environment. In this way, researchers can identify new and different microbes and their impact on the microbiome and the body.
Relation to Epigenetics
Epigenetics studies the human genome, however the microbiome is composed of too many microbes with too many interactions to use only techniques of sequencing for analysis. So those studying metagenomics use alternate methods, like those outlined in the graphic above. Since analyzing the microbiome is complex with many more interactions, research on it is far behind research on the human genome. One day researchers working on the microbiome would like to streamline the process much like the current trend in epigenetics.
How long do you think until Metagenomics catches up to Genomics in being able to sequence and truly understand the human microbiome?
Not all causes of disease can be explained by human genetics; there are trillions of bacteria in our bodies that can effect healthy gene expression and development - these bacteria are called microbes.
Looking at the above graph, the number of researchers exploring the microbiome has increased exponentially. As sequencing technology gets cheaper, faster and better, it is not only catalyzing studies of the human genome, but also “the other human genome” - the microbiome.
What is the Microbiome?
The human microbiome is the sum total of all the microbes, or bacteria, that live in the human body. In a healthy human it is estimated that microbes outnumber human cells by a ratio of 10-to-1, and the genes that make up microbes outnumber human genes by 200-to-1.
Microbes live all over our body. There are three types of microbes, categorized by the relationship they have with the human body:
commensals are harmless bacteria
mutalists have a symbiotic relationship with the human body
pathogens cause disease
Researchers studying the microbiome are examining the connections between all the bacteria in an individual’s body in order to determine their role in causing disease.
The Human Microbiome Project
The Human Microbiome Project is a project funded by the NIH Common Fund that is focusing on the sequencing and analyzing of the microbiome in order to identify the link between the microbiome and disease.
There are many ways the human genome project could change the future of science and medicine. Understanding the microbiome and the interactions that cause diseases, will allow for more specific and pointed medicine and cure/prevention of diseases we previously did not understand.
Do you think that consumers will be studying their gut flora in the near future?
To further explore the information behind the infographic, see the 30+ interviews with innovative companies using big data in “Big Data in Healthcare - Hype and Hope.”
Ever wonder why family genetics don’t always make sense? According to the increase number of publications on epigenetics, (shown above) there may be environmental and social influences.
What is Epigenetics?
Epigenetics is the change in gene expression that results from environmental and social causes that are not related to the DNA itself. ”The word literally means ‘on top of genetics,’ and it’s the study of how individual genes can be activated or deactivated by life experiences.”
The study of epigenetics not only looks at traits that are genetic, but also considers environmental factors. Epigenetics looks at gene expression - what we see- and looks to explain it on a cellular level.
Epigenetics is offering new ways to look at DNA sequences and gene expression. As shown in Discovery’s slideshow there have been five connections between epigenetics, genomics and cancer - environment, disease development, cancer, social interaction and prenatal care.
Who Is Doing It?
There are a number of hospitals and universities that are using epigenetics in their effort to cure cancer. Furthermore, a Time Magazine article explores the power of epigenetics to effect the future and life of an individual.
Future
Currently many researchers are focusing on the power of epigenetics in cancer and early human development. The hope is to take the entire human genome, human interaction and the environment into consideration and find the true cause of many of the diseases that plague humans in the 21st century.
Angelina Jolie has been the subject of recent news because she had a preventative double mastectomy. After watching several members of her family battle cancer - Jolie’s mother died from ovarian cancer and her aunt from breast cancer yesterday - Jolie decided to take a genetic test for breast cancer. The test indicated that she has the abnormal BRCA1 gene giving her an 80% risk of being diagnosed with breast cancer later in life.
Jolie’s decision and the use of genetic testing as preventative medicine has brought genetic testing into the public limelight.
What is Genetic Testing?
Genetic testing identifies changes in DNA, RNA, genes, chromosomes or proteins in order to identify genes or gene mutations that can be correlated with certain genetic disorders. Currently there are over 2000 genetic tests that identify specific disorders and diseases at the cellular level.
Relation to Genomics
Genomics identifies and analyzes genes in relation with disease. Genetic testing on the other hand looks only for a specific gene or gene mutation. The use of both genomics and genetics represents progress in preventative medicine.
As shown below, over the past two decades there has been a steady increase in the number of genetic tests available. With Angelina Jolie’s story increasing consumer awareness of new tests and new options, we expect more people to be exploring genetic testing.
How many genetic tests do you think will be available by the year 2020?
There are trillions of bacteria that make up the human microbiome. How do scientists study all the bacteria, their interactions and their effect on disease?
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