Content and Visual Design by Tiffany Simms
DrBonnie360 brings the Lonely Voices of Autoimmune Disease to #GenomicsFest in SF, highlighting the significance of genetics, epigenetics, nutrigenomics, and big data for autoimmunity.
19. Our Genes Are Not Our
Destiny
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Editor's Notes
1
There are actually more than 100 different kinds of autoimmune diseases.
Autoimmune is underserved and unrecognized despite the fact that they affect 16% of the US population, more than cancer and heart disease combined! It is one of the top ten leading causes of death in women less than 64 years.
Yet, autoimmune diseases (including T1 diabetes) receive only $1B in NIH funding per year, unlike cancers, which get 7 times as much funding.
Can you believe, it takes on average more than 3.5 years and 5 doctors to get a diagnosis? During this time, 45% of patients were dismissed as hypochondriacs.
Once diagnosed, the available drug treatments are usually applied through a lengthy and frustrating process of trial and error.
Having a chronic disease is challenging.
Let’s take a moment to learn more as we listen to the lonely voices of autoimmune disease.
Watch Video here: http://bit.ly/X41mMv
Advances in the ability to collect, store, move and analyze large data sets have
Ignited the growth of new fields collectively called omics
Omics information is one of the many types of data sets contributing to big data in biological research.
Genomics is what can happen to DNA. The Genes are hardwired and can only be altered by mutations. It is the study of genes, how they are expressed in cells and the role they play in biology
The Human Genome Project
Epigenomics are environmental influences on the DNA. These influences are exciting because new research shows we can modify our gate.
Transcriptomics- what appears to be happening at the RNA level
Proteomics is what makes it happen on the protein level, where proteins from mRNA modulate cellular metabolism
Metabolomics- all this comes together as cellular metabolism
Taken together, comprehensive omics based strategies will give us a systems biology approach to better understanding health and disease.
Coming back to Judy. She has GI symptoms that come and go as well as pelvic and hip pain. After a frustrating experience with many different doctors over several years, she is finally told she has IBD. The cause of her pelvic/hip pain is still not known.
You will recall that she has a family history of autoimmune disease. Untangling the difference between innate and adaptive immunity at the molecular level is hard. We need to tease out what provokes autoimmunity, produces clinical disease and then perpetuates chronicity.
Progress in defining the genetics of autoimmunity has been enhanced by large scale genetic studies. Genome wide approaches examine large numbers of cases and has increased our understanding of the genetic risk signature
Large scale GWAS studies as well as new tools have improved our understanding of autoimmune disease. But has not given us a complete picture. Our ability to collect omics data is ahead of our capability to give meaning to the data.
Hope lies in a better understanding of the epigenomics because Total risk is made up of environmental and genetic contributions.
The concept of the environment has expanded from exogenous triggers such as infections and toxins to endogenous triggers harbored in the microbiome.
EWAS Epigenomics of Autoimmunity gives us some clues about environmental changes such as that in DNA methylation.
We are now beginning to look at some of the results of EWAS studies.
Judy wonders how do environmental triggers work for her?
The news has had lots about food. It seems like everyday there is a new diet recommendation. What is good versus what is not? Most recently, it was hotdogs and processed meats, while at other times it has been coffee.
Judy finds out about the work of Larry Smarr. He did 3 levels of monitoring. First is macro monitoring of nutrients, food, exercise, sleep and stress. At the next level is systems biology that looks at proteins and metabolic products from blood, saliva and stool test. Third is measuring the microbiome, metagenome and its proteins, and metabolomics products via stool tests.
Noteworthy, he was able to identify a latency period. Using these approaches He has published a time series biomarker analysis and looks curiously at his explanation of a time when his data showed early signs of disease but he did not know much about it.
She then does some scientific research and finds several journal article describing the timeline for autoimmunity which includes a time when there may be opportunities to modify her triggers and prevent her health from getting worse.
Judy wonders why none of her doctors have talked about pre-autoimmune prevention or a latency period?
What should Judy do about her other problems? Her Because Judy also has the genetics for osteoporosis along with her current hip pain, she wonders how can apply this proactive approach to her posture.
She is aware of the importance of posture based upon some of the latest articles claiming that sitting is the new smoking, but that does not tell her how to address her skeletal issues.
Without much guidance, Judy is left with experimentation.
So, our genes are not our destiny. Each of us is unique. We need to own and appreciate our uniqueness as part of the DIY movement. Each of us can be a maker- a maker of our own health and wellness destiny. Big data is the foundation that spurs progress in omics creation and growth in microbiome research
Use of omics gives us new insights into systems biology, which could enable better biomarkers for complex diseases such as autoimmune disease. With new and improved biomarkers we will be on step closer to personalized medicine.
In the meanwhile, it is up to each of us to be curious experimenters, following those in QS and others like Larry Smarr. In autoimmune disease it is important to look at your genetics as an opportunity to tweak your lifestyle in a way to make your genetics works for you. and not against