Genetic Basis of the Brain-Gut Axis in IBS

From Gene to Gut: IBS and Your Mental Health

    With the upward trend of brain-gut connection research, comes intriguing results. Researchers from the University of Oslo, University of Bergen, and University of California, have found conclusive results about the connection between genetic inheritance of IBS and mental health conditions. The sample size included 53,400 people with IBS and 433,201 control participants while they searched for genomic risk loci, or specific areas of interest in DNA sequences that appeared to correlate with the IBS and mental health conditions. IBS and mental health conditions are polygenic traits as they rely on a heavy influence from various genes, and many of these genes were found to be shared in the sample sizes. There were 70 loci identified in the connection between IBS and mental health conditions, with the results concluding: 7 associated with GAD, 35 with depression, 15 with schizophrenia, and 27 with BPD. Now, new connections and pathways between the brain and gut can be better examined and enhance our understanding of these conditions.

    This was a great article to read, and also put many things into perspective. Many clinicians neglect the fact that a physical medical condition can have an impact on your mental health, and I believe this data directly proves there is a definite connection between the two. Furthermore, IBS is often used to describe food sensitivity to FODMAPS, and most people with IBS are instructed to follow a low FODMAP diet; however, this alludes to the fact that maybe IBS shouldn't be classified as a food-sensitivity related disorder, but rather that of a mental health condition because stress and anxiety factors can trigger the same symptoms. In my opinion, this is a classical case of medicine placing an umbrella term for a condition that can have many different causes, but are neglected to be looked into any further. I feel strongly about this topic, and hope to change the narrative when I enter the medical field.

Links for further research:

1) https://www.sciencealert.com/many-of-the-genes-behind-ibs-could-also-affect-our-mental-health 

2) https://medicine.missouri.edu/news/irritable-bowel-syndrome-patients-suffer-high-rates-anxiety-and-depression

Scientists Genetically Engineer Yeast to Improve the Understanding of How a Cell Works

  Researchers from the University of Cambridge and the Imperial College London have genetically modified yeast cells to help scientists control how the cells will react in certain environment and make the yeast cells react in a suitable way. Yeast was chosen because it has been shown yeast and human cells are have very important similarities. The most important trait they both have is that they sense their environment using G protein-coupled receptors (GPCRS). GPCRs are receptors that enable a cell to sense chemicals in their environment like hormones or drugs. So scientists believe that if they can understand in detail how the GPCRs mechanism works in the yeast cells they can then understand how the proteins work in humans cells. This will then have a huge impact on medical research because scientist then can in theory modify a human cell that is diseased and make that diseased cell function properly.  

Article Link

Website link

Genes Behind Deadly Heart Condition Identified

    Pulmonary arterial hypertension has a mortality rate of 50% within five years and in some cases doctors could not determine the exact cause of it. Its most often seen in people with other heart or lung conditions however it can affect others and in about 20% of cases no obvious cause could be found. However in recent study with over 1,000 PAH patients with no known cause has revealed 5 genes to be the cause of the disease, four of which were previously thought to not affect it at all. It was found that the people with these gene mutations fail to produce proteins necessary to maintain the structure and function of body tissues.

   This is another example of how genetics can be used to improve current treatments and develop new ones for diseases that were previously hard to treat or even diagnose as previous information and methods just did not provide what was necessary. Genetic findings like this and other Genetic technologies like CRISPR could ultimately lead to an overhaul of how medicine works. We are coming ever closer to being able to correct heredity diseases before they ever even show and perhaps even "improve the genes" of children still in development like in the movie Gattaca. However it is still too early to see if this could actually become a reality or how the overall populace would react to such technologies.

Article - http://www.bbc.com/news/health-43727026
Journal - https://www.nature.com/articles/s41467-018-03672-4

Isolated Genes in Iceland Could be Key in Preventing Alzheimer’s

Isolated Genes in Iceland Could be Key in Preventing Alzheimer’s

 

It is estimated that about 90% of the population in Iceland is pure Icelandic. For this reason, geneticists have been attracted to Iceland and their gene pool to conduct experiments and do research. A company called deCODE was created in an effort to map the genome of Iceland (about 332,000 individuals). The deCODE team has identified genes that effect the chances of developing Alzheimer’s. About 1% of the Icelandic population has a rare gene variance that completely protects an individual from developing Alzheimer’s. Using this information about the genetic variant, researchers are now working to replicate what this gene does in order to use it for medicinal purposes.

The research presented in this article is incredibly promising for the field of medicine. Alzheimer’s has been a bit of a mystery, and remains as one to this day. There is no conclusive evidence on why or how people get it, and there is certainly no cure for it. With the genetics research being done by the deCODE team, perhaps some day we will be able to treat this disease. Similar research could shed light on other conditions or diseases, ultimately leading to more cures, preventions, and treatments. 

Read about why Iceland is the world's greatest laboratory!

New Implantable Device Stops Pain at its Source

Imagine a flexible, implant in the body that stops pain at its source so that it can never be perceived by the brain. And it doesn't require batteries. Researchers from Washington University of Medicine in St. Louis, MO, and the University of Illinois have recently developed a prototype, undergoing trials in lab mice, of the implant.
The research team is utilizing the newly developing field of optogenetics, "a biological technique which involves the use of light to control cells in living tissues, typically neurons". The genetically engineered lab mice being used have nerve cells with light-sensitive proteins on their surfaces. These new devices can be held in place with sutures, and the research team hopes that eventually the technology can be used to "treat pain in very specific locations by providing a kind of 'switch' to turn off the pain signals long before they reach the brain". In their study, the research teams used the device to activate small doses of pain in lab mice to demonstrate the ability of light to induce or block pain in different methods. They believe that their studies demonstrate that optogenetics has future potential in areas of the body other than the brain, such as the bladder, stomach, and joints.
I personally believe that advancing branches of medical fields such as optogenetics will lead to improved healthcare in the future. Technology is rapidly advancing, and implanting a "pain-stopping" device is both exciting and expected sometime in the near future. Beginning research now on these new, prototypical fields will be beneficial in the future.

Can Your Genes Predict Your Future Health?

          "Age is just a number". It's a phrase that's been said time and time again by people who claim to feel as though they are in better condition than their age suggests. According to recent studies by a research team at King's College in the United Kingdom, that might just be the case.

          The research team, led by professor of precision medicine James Timmons, recently announced its study on a "gene signature" that has the potential to predict future health problems based on your underlying biological age. Blood samples collected from test subjects between the ages of 25 and 65 were used to analyze 150 classifier genes and then to calculate a “healthy age gene score” that could be used later to test underlying biological health of potential patients. To further observe the accuracy of the "gene score" relative to the actual health of patients, Timmons' research team tracked a group of 70-year-old participants for 20 years only to see that the "underlying biological age" varied greatly for each of the participants, independent of their identical ages.

          The research team hopes that their work can help slow the devastating effects of Alzheimer's before its onset. Yvette Brazier, writer of Medical News Today, writes:

"it is anticipated that novel genomic diagnostics such as this will help predict future health care needs, guide targeted preventive measures and enable individualized treatment strategies for a number of diseases experienced in older age."

          According to the UK's National Health Service, they hope that research like this will "transform diagnosis". As science develops and research techniques become more advanced, genetics will play a larger and larger role in the way that disease is treated and prevented in the medical field. Because of my future hope of working as a doctor in a trauma center, I personally look forward to future developments like these in the medical field. Science is single-handedly changing the way that patients are being cared for, and the future is promising with research like this!

Trying to fool cancer

This year, scientists have been attempting to create a medication that will ultimately “fool” cancer cells. It is considered precision medicine and it uses “cancer’s molecular underpinnings to develop drugs that attack the genes or gene products that make up cancer’s factory while sparing normal cells.” There have been many experiments conducted in hopes of finding a way to cure cancer, once and for all.

            The first study is done on 600 patients with one of two bone marrow cancers, myelodysplastic syndromes or acute myeloid leukemia at the Cleveland Clinic.  These cancers are most commonly found in people age 70 to 80 and can be fatal if left untreated.  These cancers cause cells to outgrow and form a mass of cells or remain immature making it nearly impossible to function normally.  Majority of the patients tested developed an average of 10 genetic mutations before the cancers were diagnosed.  The fact that so many mutations were present makes treating cancer that much harder.  There is no medication available to treat that many mutations and only treating a few of them would help the rest of them thrive allowing the treated cancer to regrow.

The next step in this research is to determine where the mutations start and which one they start with. But it is possible that these starter mutations are found in both cancerous and noncancerous cells so attempting to kill them could wreak havoc within the patients.  A drug was administered to patients that would hopefully improve their blood count and attack the mutations in cancerous cells.  But for some patients, the mutation had nothing to do with causing the cancer.  Despite everything, the road to curing cancer has had massive improvements but nothing is curative.  And although many new forms of treatment have come into play, the older techniques are not a thing of the past.

Cancer has always been a topic of interest for me just because of how unpredictable it is.  It is a brilliant idea that scientists and researchers are continuing to try to find new ways to treat cancer in hopes of one day curing it for good.  Chemotherapy and modern medicine are good cancer treatments but they do not always work so the continued research for a drug that could pinpoint the mutations and destroy them at the source could only help pave the way to a cancer free world.

New Parents Favor In-depth Genetic Testing

A Boston survey found that new parents are interested in having their newborn baby undergo in-depth genetic screening to learn about potential health risks.  Newborn babies currently get blood tests that screen for about 30 heritable and treatable conditions. The researcher's found that 83% of parents surveyed within the first 2 days of their baby's birth were interested in in-depth genetic testing for their baby. In-depth genetic screening is also well known as genomic testing, which has the potential to provide more comprehensive personal information than normal blood tests. The parents who took the survey were all similar regardless of age, gender, race, ethnicity, level of eduction, family history of genetic disease, or if it was their first child.

Harvard found that as whole-exome and genome sequencing is integrated into clinical practice, researchers are becoming more interested in providing in-depth health information for newborns that is not already known from standard blood screenings.
I believe advancements in newborn genetic testings is a step in the right direction. If parents find out the genetic sequence of their child at birth that can help treat a medical condition before it gets out of hand.



Article: http://health.usnews.com/health-news/articles/2014/12/04/new-parents-favor-in-depth-genetic-testing-survey-finds

Could DNA Testing Be Available in Every Doctor's Office?

    
     There may be a day in the not too distant future that will have your DNA available to any doctor you may see. Before he prescribes you medicine, he or she could test your DNA and see how effective the treatment would be, well before you ever take it.  As DNA testing becomes cheaper and more available to the general public, doctors can see possible inherited risks and keep a closer eye to effectively treat any disease at its earliest onset.  This could also lead to lifestyle plans that could avoid the risk all together.

    Researchers at Arizona State University teamed with IBM researchers are doing just that. 
They are creating a tiny DNA reading device that is no thicker than human hair.  The researchers stated that with this device could make every day use of full human genome reading. A current is passed through a nanopore which would then spike the concurrent chemical base on the DNA.  This same device is being researched to possibly assist with drug research as well.  Cheaper and better technology means cheaper health care and medications in the long run for everyone.

http://www.sciencedaily.com/releases/2014/11/141124103223.htm
https://ca.finance.yahoo.com/news/adaptive-biotechnologies-launches-immunoseq-kit-205600164.html

Stratified Medicine to Improve UK National Health Service

Stratified Medicine, also known as Personalized Medicine, is medicine specifically tailored for an individual.  The medicine works off the genome sequence of individuals (being everyone has a unique genome) allowing for more efficient drugs with fewer side effects, if any.  Doctors can use a person’s genome to determine diseases caused by mutations.  In addition to being able to diagnose a patient, genomes have the potential to inform doctors what drugs work.  It is with this information Stratified Medicine gets to shine.  Knowing how drugs will work on person will increase the chances of finding the right drug sooner and overall increase the number of lives saved.

                  

A survey of UK health professionals shows increased interest in the use of non-cancer stratified medicine for.  Patients have also shown interest, believing it gives patients access to treatments they otherwise wouldn't have.  The medicine has already made significant impact on the UK’s National Health Service, without being used for cancer.  The potential of using stratified medicine in conjunction with advance cancer treatments is vast.  However, there are some problems with implementing stratified medicine as the norm.  While there is an increased interest among health professionals, they agree the health system would have to change to support the use of stratified medicine.  The change might be slow but the use of stratified medicine could advance the medical world further.

              

                  

The UK has a very special opportunity to advance their health care system, and set the example for the rest of the world.  I personally hope they can make the change to incorporate stratified medicine.  It will allow the world to see how useful (or useless) it could be and see if it is worth utilizing.  I see the use of these types of drugs to be the advancement of the medical world, with large potential to save numerous lives.

Article:  http://www.medicalnewstoday.com/releases/285839.php 

Related Articles:  http://biomed.science.ulster.ac.uk/stratifiedmed/-What-is-Stratified-Medicine-.html  and  http://en.wikipedia.org/wiki/Personalized_medicine

Oxytocin Used to Help Patients Overcome Fear

A team of researchers working under the guidance of the University of Bonn Hospital in a recent study showed that the bonding hormone oxytocin inhibits the fear center in the brain and allows fear stimuli to subside more easily. The hope is that this research will provide the basis for future treatment of anxiety disorders.

Significant fear can become entrenched in a person’s brain with individuals involved in car accidents providing a key example. Individuals involved in car accidents often find it very difficult to handle street traffic after their accident due to significant anxiety. Scientists refer to this as conditioning where certain images or noises, such as screeching tires, are associated in the brain with pain or fear.

Overtime the original contents of the fearful memory are not erased; however, positive experiences overtake the original memory through the process of extinction. Nonetheless, if encountered with a dangerous situation similar to the original fear, the original fear comes back.

Dr. René Hurlemann from the Department of Psychiatry and Psychotherapy of the University of Bonn Hospital stated, “Oxytocin actually reinforces extinction: Under its influence, the expectation of recurrent fear subsequently abates to a greater extent than without this messenger.”

Specifically the team of researchers showed various images to 62 male patients. For 70 percent of the images the research subjects received a very brief electrical shock to their hand via electrodes. When the images, where the electrical shock was experienced, were viewed again anxiety was noted in the tests subject’s brains. For the second portion of the study half of the test subjects received oxytocin via a nasal spray while the other half received a placebo.

After receiving either the oxytocin or the placebo the patients were shown the same images as before; however, this time there were no electrical shocks experienced. In those patients who received the oxytocin the amygdala, fear center in the brain, was far less active than in the control group who received the placebo. In those patients that received the placebo the fear-inhibiting regions were more stimulated. The researchers hope that with the aid of oxytocin anxiety patients can be helped more quickly and that a relapses can be prevented more easily.

This article was very interesting because anxiety is something that is often overlooked and forgotten about. It’s clear that something that happens every day, such as car accidents, can have a long lasting effect on an individual even after the physical injuries have subsided. I am curious to see the results of further clinical trials that have larger sample sizes and potentially with patients with severe anxiety disorders to see how well oxytocin alleviates the anxiety in these patients.  

Main article: http://www.sciencedaily.com/releases/2014/11/141113110014.htm

Secondary article: http://medicalxpress.com/news/2014-11-oxytocin.html

Deep Brain Stimulation May Unlock the Cure to Tourette’s Syndrome

Tourette’s syndrome is a neurological disorder that causes individuals to make involuntary movements and loud noises. There is currently no cure for Tourette’s syndrome; however, specialists at the University of Florida's Center for Movement Disorders are looking to change that. Specialties at the center are performing experimental surgery in Tourette’s patients.  The procedure, deepbrain stimulation (DBS), is currently used in patients with movement disorders such as Parkinson's disease or tremors.

Deep brain stimulation is based off the delivery of electricity and works by implanting small electrodes into the brain in order to stimulate affected regions in patients with movement disorders. The electrodes are attached to an impulse generator and the generator, which is also referred to as a pacemaker, provides electrical impulses to the affected regions of the patient’s brain. The connections between neurons are affected by the impulses which stop the abnormal activity that the patients are presenting with.

While DBS has been performed in over 100,000 patients since 1997 it has never been performed in Tourette’s patients. The underlying neurology in Tourette’s patients is different from that of other conditions treated with DBS because it combines both emotion and motor activity. Specifically, in Tourette’s patients the movement is not there all the time; the patients have a buildup, tic, and an urge and until they can move the patients do not feel better. The only current available treatments for Tourette’s syndrome are behavioral therapy and drug medications; however, these treatments only alleviate the severity of the tic they do not prevent the tics all together.

In September 2014 DBS was performed in a patient with Tourette’s syndrome for the first time. Additionally, the patient had a new grid-like device implanted on top of her brain. This device is intended to gather information from the patient’s brain that can hopefully lessen her tics, and possibly someday stop them. Over the next six to twelve months the patient’s brain activity will be monitored with the grid providing key insights into the underlying cause of her Tourette's syndrome. Understanding the underlying causes of the syndrome will allow doctors to regulate the electrical impulses to in order to manage and hopefully eliminate the tics all together.

This article really caught my attention me because I am very interested in neurological disorders and learning more about them. Tourette’s syndrome is an interesting and difficult disorder because of both the physical and emotional combination. It will be interesting to see over the next several months how well DBS works in this patient. I am hopeful that this procedure will be the next step in learning not only more about the disorder but will be able to eliminate the symptoms experienced by Tourette’s patients.  

Main Article: http://www.cnn.com/2014/10/27/health/deep-brain-stimulation-tourettes/index.html?hpt=he_bn3

Secondary Article: http://tsa-usa.org/dbs/DBSfall09x.html

New Discovery Revels Potential for Blood Cancer Treatment

Researchers working together from the Centre for Immunology and Infection at York University as well as the Department of Medicine at Stony Brook University have made a significant discovery that may lead to the development of new treatments for specific blood cancers. The therapeutic target discovered has potential to lead to improved therapies for a group of specific haematological cancers, myeloproliferative neoplasms (MPNs).

These cancers are characterized by increases in one or more blood cell types, specifically red blood cells. Red blood cells carry oxygen around the body as well as prevent bleeding and bruising from easily occurring. It is important for tight control of the number of red blood cells in circulation in the body; however, in the bulk of patients with MPN have a mutation in the JAK2 protein. The mutation in the protein causes the patients’ blood cells to propagate too quickly.

The research team discovered that the protein molecule Mpl is necessary for the occurrence of the mutation in the JAK2 protein. Specifically, the team identified that turning off half the gene in the Mpl receptor reduced the expression enough so that the mutation did not occur in the JAK2 protein; therefore, the disease does not develop.

Dr. Ian Hitchcock, of the Centre for Immunology and Infection at York University, stated, “This is potentially important medically because it means we can target Mpl. If you can disrupt its activity you have a completely novel treatment for the disease. We found that it is unnecessary to get rid of the receptor entirely, you just need to reduce its expression to have a significant effect on the development of MPN.”

This article was very interesting because of the potential the research team’s discovery has. Despite the significant improvements made in cancer research there still remains a lot to be discovered. This research has the potential to completely change how specific blood cancers are treated. I am curious to see the results of further research,  in particular clinical trials that compare the outcomes of subjects/patients using treatments based off of this discovery compared to subjects/patients who are treated using current treatments. 

Main Article: http://www.sciencedaily.com/releases/2014/11/141110124344.htm

Secondary Article: http://ghr.nlm.nih.gov/gene/JAK2

Transgenic Monkeys: could be science's new Mouse!

The mouse has long been used in science to test a realm of different diseases and genetic mutations known to humans. More recently, scientists have began to move on to more complex organisms, such as this article features, like the Monkey. The creatures have both closer cognitive abilities to humans as well as social interactions that can be related more to humans. It is these components that researchers can take into consideration when observing the effects of the mutation or disease (that which had been grown in the monkey). Diseases such as Alzheimer's and autism are just two examples of a vast amount of possible mutations/diseases that can be found within the human genome that which scientists can insert into the monkeys. Although the use of monkeys in science is new, it could be the key to a world of answers. There are millions of people whose lives are effected everyday by things like autism, understanding how they happen is just the first step in being able to successfully treat them. Taking it one step further, the monkeys would also allow the scientists to test different treatment possibilities on the monkeys. This would be more beneficial to humans than testing the same treatments on the mouse.

Source: http://www.nature.com/news/precision-gene-editing-paves-way-for-transgenic-monkeys-1.14098

Further information on using monkeys to do research on can be found at: http://whsc.emory.edu/home/publications/health-sciences/emory-health/winter09/monkey-models.html

New Treatment for African Sleeping Sickness Comes Closer

The central thesis identifying the drugs that can target the parasite, Trypanosoma brucei, which causes the African sleeping sickness, will be presented on November 8, 2013 by researchers from Umeå University.  This study will provide scientific evidence that a cure for this illness which is generally transmitted by tsetse fly can be developed. This inflection causes sleep disturbances and many neurological issues with the final stage resulting in unconsciousness and death. 

        The drug targets the RNA building blocks which resembles DNA building blocks.  Additional research is required regarding the production of the DNA building blocks from precursor molecules. These building blocks are made in stages called phosphorylation where enzyme are produced, then dATP. Soon after, the dATP becomes toxic to the parasite and they perish in a few hours. The researchers discovered that this process is more effective than deoxyadenosine in killing off the parasite. 

        In is interesting to note, that in roughly thirty-six Sub-Saharan Africa countries lack of medical information about the extent of the population that is effected by this disease. So, if we could get a cure that is inexpensive, easily produced and distributed, Africans quality of lives would be dramatically changed. 

http://www.sciencedaily.com/releases/2013/11/131105194643.htm

 

http://www.medfak.umu.se/english/about-the-faculty/news/newsdetailpage/new-treatment-for-african-sleeping-sickness-comes-closer.cid224226

New Membrane Pores With DNA Nanotechnology

     Scientists at UCL have developed a new type of nanotechnology that greatly stremlines the process of creating artificial pores on cell membranes. Due to the lipid composition of human cell membranes, previous pore-creation technologies have struggled with anchoring their artificial "nanopores" to the cell. This new approach from UCL uses a type of molecule with an affinity for fats, allowing the artificial pores to be anchored in only two places. This represents a drastic improvement over earlier attempts at pore-creation.

     This article piqued my interest as it makes heavy use of synthetic biology and genetics. These DNA tubes are extremely exciting for the future of medicine, allowing drugs to be directly injected into specific cells. This bodes particularly well for the treatment of tumors and cancers, allowing drugs to specifically target malicious cells while sparing benign cells. Nanotechnology and its impact on medicine is fascinating and the surface is just being scratched.

http://www.sciencedaily.com/releases/2013/11/131104123737.htm
http://www.nature.com/news/2010/100920/full/news.2010.482.html

Henrietta's Family Finally Gets a Say in Genetic Destiny

At John Hopkins Hospital in 1951, two thin silvers of tissue were removed from a Hernietta Lacks cervix. These cells were taken from a cancerous cervical tumor termed HeLa, which later multiplied wildly and continuously; which had never been seen before. Henrietta’s cells have become an enormous part for research genes that are the origin and that defeat cancer. Her amazing cells also aided in developing drugs that treat herpes, influenza, hemophilia, and even Parkinson’s disease. Other important medical advances were a polio vaccine, cloning, gene mapping, and vitro fertilization.

After decades of using these cells to produce widespread discoveries on diseases, Henrietta Lacks and her family had no knowledge of what her cells were being used for. This meant that the companies using these cells were capitalizing on the discoveries created by Lacks' HeLa cells; while this proceeded for years, her family had received no compensation. Another huge issue that appeared this year for the Lacks family was that a German scientist mapped out the full HeLa genome and made the results public.  

 

HeLa Cells stained to highlight specific parts of each cell. 

The National Institute of Health and the Lacks' family have come to an agreement where the Lacks family has control of the access to the HeLa genome. This means that researchers who receive NIH funds will have to apply to use the data controlled by the Lacks. A laboratory that is not funded by NIH does not have to follow these rules. The Lacks family hopes that everyone can respect to their privacy. What if it was you or your family’s privacy that was being taken advantage of?

The privacy problem that the Lacks family is facing is not an unfamiliar problem. There are plenty of other cases where doctors and researchers are taking advantage of their patients left over bodily parts. It has been seen when a patients parents learned that an examiner had kept a part of their son’s brain. It also occurs often at hospitals where blood is drawn and tested. A report was issued in 1999 by RAND Corporations that says more than 307 million tissue specimens are stored in the United States and each year it grows.

  I feel that these specimens will help make a difference in our world. These things can find information on certain medical issues; medications can be made, and even cures to diseases through these “stolen” specimens. People do have the right to their privacy, but why stop the progression of science. It’s as though most people are not as worried about the good that is coming from these specimens but the money that they are missing out on. People need to see the bigger picture of what we can do for other people and our future. I respect that people have want their privacy; and feel that it is a good beginning to a privacy act between the agreement with the Lacks family and the NIH. We learn a lot from specimens that are donated or used unknowingly. Hopefully one day we can eliminate this problem and come up with a proper understanding.

http://www.cnn.com/2013/08/07/health/henrietta-lacks-genetic-destiny/index.html?iref=allsearch

http://news.nationalgeographic.com/news/2013/08/130816-henrietta-lacks-immortal-life-hela-cells-genome-rebecca-skloot-nih/

Genetics and the Future of Medicine

In an issue of Cell, Snyder, molecular geneticist at Stanford University in Palo Alto, California, and his team of 40 researchers published detailed results of Snyder's blood tests which included biochemical data showing the status of his body's immune system, metabolism and gene activity. Snyder analyzed his blood over a 14 month period 20 different times to find the links at different time points between the 3.2 billion nucleotides of DNA in his genome and more than 3 billion fluctuations in his blood molecules such as proteins, metabolites, microRNAs, cytokines, antibodies, glucose, and gene transcripts.  Daniel MacArthur, a genomics researcher at Massachusetts General Hospital in Boston, says the "fascinating study" is much more informative than simply looking at someone's static genome sequence. (Snyder's group decoded his at the beginning of the project.) "The nice feature of this study is that it profiles many of the dynamic molecular changes that our body experiences in response to environmental stresses."

Snyder feels with the technology available today we are not practicing medicine at the level it should be. The blood tests done today can test for 20 things max, and he feels that inorder to get a better picture we should be able to test for thousands of things and he has proved it that it is possible with the technology out there.   



At the first blood draw, Snyder had a cold and the scientists were able to track how the rhinovirus affect the human body biochemically in more detail than ever before. After the initial sequencing of his DNA, Snyder found that he had predisposition for type 2 diabetes, but since no one his family had diabetes and was at a healthy weight he didn't take it too seriously. However, they started paying close attention to biomarkers related to diabetes, insulin and glucose pathways and when later he became infected with respiratory syncytial virus his glucose levels went up dramatically almost immediately. He believes that even though he had a predisposition to diabetes, the viral infection was the trigger. Currently there is no connection between viral infections and type 2 diabetes, but Snyder believes that this type of analysis will allow us to find many missing links and believes this to be the future of medicine.  Last summer he co-founded a company in Palo Alto, Personalis, which aims to help clinicians make sense of genomic information.

I think with this study shows how genetics will be becoming an intergral part of medicine in both preventing and treating diseases.