Archive for the ‘DNA’ Tag
Our Lives Are As Complete As We Want To See Them
DNA Mapping Could Save Your Life
You may think you know yourself like the back of your hand, but unless you’ve been DNA tested, there’s probably a lot you don’t know about yourself. Within each of the 50 trillion cells in your body rests the microscopic DNA that programs your entire being; your hair color, your height, your freckles or lack thereof, your likelihood of developing cancer and whether or not you can taste cilantro. Nevertheless, few people in their lifetime have actually unlocked this information via DNA mapping. For starters, it used to be quite expensive. Some might not even realize they have access to this information, while others simply might want to know what their DNA has in store for them as life unfolds.
Crushing these barriers is Anne Wojcicki’s 23andMe, a $99 DNA testing kit that requires just a few milliliters of spit. That’s it, no blood tests or pesky skin pricks. Eight weeks after mailing the kit back, you’ll receive a full genetic report that outlines your health risks and ancestry. During those two months, the scientists in 23andMe’s lab extract DNA from the cells in your spit and amplify the DNA so they have enough to work with. From there, the DNA is genotyped, yielding your unique report of what makes you, you. To get the full picture of their ancestry, though, women need to have their father or brother take the test; while everyone has mitochondrial DNA, paternal DNA is passed along through the Y chromosome, which women don’t have.
Thus far, more than 200,000 users have been genotyped via 23andMe, and 90% of those have opted to participate in the company’s research efforts. Each survey question counts as a data point, and to date, 23andMe has collected more than 100 million data points, with 2 million more coming each week. The company’s in-house research has studied life-threatening sarcomas, Parkinson’s disease and diabetes, as well as lighter topics; unibrows and why Shar-Pei dogs are so wrinkly.
With an eye toward revolutionizing health care, the company raised 50 million dollars last year to drop the price of the kits from $999 to $99 and dramatically grow its database. In her blog post about the price drop, Wojcicki writes, "This change is not just about a new price point for personal genetic testing. It is about an ambitious plan that could transform medicine for generations to come."
Would you do the test, if it revealed that you have an increased risk for Parkinson’s disease or lung cancer? People have strong opinions either way, but knowledge is power. It is very holistic to empower people with their genetic information. You, the individual, don’t have a voice in the system. You’re talked about as a human subject, with no agency in the health care system. You’re simply told what you’re going to get, and it’s often dictated by your insurance company.
The industry is filled with really, really good people who want to make a difference in health care, but the system is set up in such a way that we really don’t have optimal health care. Take Type 2 Diabetes, for example. It’s a preventable disease, but no one makes money until you actually develop diabetes and need to buy insulin and testing strips. The system is set up so they make tons of money once you’re diabetic, but if you don’t develop diabetes, no one makes money. This is a fundamental flaw in the system.
Because your genotype outlines your risks for developing various diseases and disorders, health care could one day focus on prevention. Patients would rather prevent a disease than treat it effectively, but in today’s system, doctors are taught how to treat various conditions, not prevent them altogether. Public should be empowered with their genetic information. It is really important information about your health, really fascinating information about your ancestry, and the aggregate data of having millions and millions of people together will create this incredibly powerful database that’s going to filter back to you and give you more information about you and make you healthier.
Interestingly, health care reform has piqued insurance companies’ interest in prevention, because understanding your genetics could keep you healthier and prevent complications and costly side effects. But while insurance companies may want this information, it is firmly protected by federal law, and that the information in essence, your identity, should be controlled by the individual at this point in time.
Though 23andMe has been around since 2006, its growth and database have skyrocketed since the $99 price point was introduced. With more people in the database, the company can provide a fuller user experience and tell you more about what your genes mean. What company is really focused on is growth right now. As the customer base grows, so too do the volume of emotional stories. 23andMe saved many lives and having your genetic information will revolutionize things for you.
Wojcicki has a degree in biology from Yale, her father is a particle physicist, and she grew up on Stanford’s campus, going to particle physics meetings and listening to people who want to challenge Einstein’s theories. The particle physicist community is a really fabulous community, and they’re really about the pursuit of science for the sake of science and pursuit of truth. It’s not a commercial entity, and I have a huge respect for them because they’re really passionate about what they do.
Related Articles
- 23andMe and the Tension Between Big Data and Privacy in Healthcare (business2community.com)
- 23andMe Discovers Genetic Associations For Myopia (futurepundit.com)
- The era of genetics-based advertising is coming (wired.co.uk)
- 23andMe Announces Beta Testing of New Ancestry Features (eogn.com)
- At more colleges, classes on genetics get personal (bostonherald.com)
- Why 23andMe Is About More Than You And Me (portal.lillycoi.com)
- Personal Genetics With 23andMe (alexinleeds.com)
- 23andMe Requests FDA Clearance for DNA Saliva Testing (labsoftnews.typepad.com)
- 23andMe.com (maariablogette.com)
Development of Human Intelligence III
Human Intelligence
The Molecular Biology of Intelligence:
There have been several examples where one specific gene has been linked to loss of function or disease. Sickle Cell Anemia, Hemophilia, and Phenylketonuria are examples of a mutation in a single gene causing loss of function of a protein that leads to disease. However, intelligence is not dimorphic, there is a broad range of intelligence and there are several genes that govern general intelligence. These multiple-gene systems are often referred to as quantitative trait loci, which can, contribute interchangeably and additively like probabilistic risk factors.
Historically, genetics has utilized mutants to identify the location and function of genes. Due to the slow reproductive rates of humans and obvious ethical issues, it is much harder to identify, isolate, and study human mutations. One of the few chances scientists had to look at gene mutations affecting intelligence was in the case of Pakistani families isolated in Yorkshire. For social reasons, the Pakistani families interbred and as a result the homozygosity of the group increased. This means that there were more cases of two recessive mutated alleles occurring that were once covered up by a dominant wild type allele. As a result, there was a very high proportion of the group that had microcephaly compared to the rest of the population. Microcephaly is a condition which leaves the patient with an abnormally small head and brain. The physical size of specific regions of the brain can have tremendous effects on an individual’s general intelligence. One gene that was linked to the smaller brain size in the microcephaly patients was named microcephalin. This gene was determined to be active only during the fetal stages of development.
Another gene linked to smaller brain size is found in nearly all members of the animal kingdom. The Asp gene is responsible for forming spindle fibers during cell division. The spindle fibers act to separate homologous pairs of chromosomes so that there will be genetic material for both of the daughter cells. In the Pakistani patients that had microcephaly, half of them had two defective copies of the Asp gene. When both copies of the Asp gene are defective, spindle formation and chromosome separation are substantially slowed. This results in much slower growth of the brain, a smaller brain, and therefore a much lower general intelligence.
In addition to the rare opportunity to study field mutation in Yorkshire, quantitative trait loci studies have isolated insulin-like growth factor-2 receptor (IGF2R) as a gene on chromosome 6 which is linked to intelligence because it has, been shown to be especially active in brain regions most involved in learning and memory. Of the two alleles that are possible, it was found that a group of children with high intelligence quotient had twice the frequency of one allele as compared to the group of children with low intelligence quotient. More studies are needed to show the direct role that this gene plays in determining intelligence, but it is important to note that genes determining intelligence do exist and can be passed on to offspring.
Related Articles
- Molecular Genetics and Functional Anomalies in a Series of 248 Brugada Cases with 11 Mutations in the TRPM4 Channel (plosone.org)
- Theme: Mutation (sandwalk.blogspot.com)
- What Is a Mutation? (sandwalk.blogspot.com)
- The Red Nose Gene (thefinchandpea.com)
- The “epi” thingy – new genetics (focusonfoodsafety.wordpress.com)
- Brain Tumor Gene Finding May Point Way to Precision Drug – Bloomberg (bloomberg.com)
- Genetic variation (en.wikipedia.org)
- Reasons for Hearing Loss: Genetic Mutation of microRNA (healthyhearing.com)
The Deleterious Effects Huntington’s Gene
Biological engineers at Massachusetts Institute of Technology in the US have discovered that the gene that causes Huntington’s disease, a fatal neurodegenerative disorder, damages brain cell function by upsetting the on-off switching patterns of other genes. This detection will lead to ways of reinstating normal gene expression that can be used in treatments to slow or stop the evolution of the disease in early stages. The earliest phases of Huntington’s is most interesting, because that’s when there is large anticipation that one could either slow down or stop progression of the disease, and allow people to live healthy lives much longer. By the time there is much more severe neurodegeneration, it’s improbable that one would be able to turn round the damage.
Huntington’s disease is a deadly neurodegenerative disorder. It is a genetic disease that characteristically hits in midlife and causes progressive death of specific areas of the brain. Most of the injury is to the basal ganglia, a part of the brain that is responsible for many functions, including intentional control of muscles and habit configuration. The gene for Huntington’s disease, which was discovered about 20 years ago, codes for a mutant protein called “huntingtin” that collects in cells. The mutant gene contains many extra repeats of DNA sequences, but until this study, how such extra length produces the symptoms of Huntington’s was a complete mystery.
DNA carries directions for making proteins that do the work of creating and controlling cells. A process called transcription uses a special group of proteins to “read” the directives in the DNA. But a transcription protein can’t read a DNA instruction if the matching section of DNA is blocked. This is how genes can be “switched on and off,” forming complex pattern of gene expression that makes certain the correct instruction is transcribed at the right time for a healthy organism to grow and live. One way of blocking access to genes is to attach methyl groups to the related sections of DNA. There are genes that do this as a method to control when other genes are switched on and off.
Recently scientists comprehended that DNA methylation patterns aren’t fixed during embryonic development, but can change during an adult’s lifetime. In fact, it is an active process involved in a wide range of normal cell behavior.
Fraenkel and colleagues measured changes in DNA methylation patterns in cells from the brains of mouse embryos with early stage Huntington’s disease. The cells were from the striatum, which is the largest part of the basal ganglia. The striatum is the center for planning of movement and is severely affected by Huntington’s disease. The researchers found cells with normal forms of huntingtin protein had a different methylation pattern to cells with mutant forms. Some extended part of DNA had lost methylation, while others had gained it. They noted that most of the sites involved were in regions of the genome that control the switching on and off of neighbouring genes responsible for the growth and survival of brain cells. It seems like the mutant form of huntingtin exclusively targets genes involved in brain function disruption in those genes that explain the brain-wasting symptoms characteristic of Huntington’s disease, including early changes in cognition.
Noticing the differences in methylation patterns, the team identified many of the proteins that would bind to the sites involved, including Sox2, and other genes known to control genes involved in brain cell growth and behavior. The question is how the changes to methylation actually produce the disease symptoms. These findings points to new treatment targets. One could imagine that if one can figure out, in mechanistic detail, what is causing these changes in methylation, one might be able to block this process and restore normal levels of transcription early on in the patients. Team is also finding out whether patterns of methylation change as the disease progresses.
In November 2012, researchers at the University of Montreal identified and “switched off” a chemical chain that caused neurodegenerative diseases such as Huntington’s disease, amyotrophic lateral sclerosis and dementia.
Related Articles
- Huntington’s Gene Disrupts Brain Cells Via Changes To Other Genes (medicalnewstoday.com)
- Possible role for Huntington’s gene discovered (medicalxpress.com)
- Researchers find chemical ‘switches’ for neurodegenerative diseases (eurekalert.org)
- huntington’s chorea (deemagclinic.wordpress.com)
- Researchers Find Chemical “Switches” For Neurodegenerative Diseases (medicalnewstoday.com)
- Chemical ‘Switches’ Discovered For Neurodegenerative Diseases (medicalnewstoday.com)
- Chemical ‘switches’ for neurodegenerative diseases discovered (sciencedaily.com)
- No universal code for gene control, UCSD study says (utsandiego.com)
- Editing the genome with high precision (biologynews.net)
Who Will Marvel At Your Golden Footprints?
One of my favorite adults to spend time with as a child was my grandfather. I followed him downhill to the barn, across the pasture, into the garden, inside the chicken house. He talked and I listened. One of the life lessons I learned from him is that even if you live to be 110, its brief. What kind of footprints do I want to leave here on this Earth?
Those who are critically ill or terminally ill teach us so much about life and death. The trick is whether or not we want to listen. We must train ourselves to ‘be present’ to them, really hear them, and honor the wisdom their suffering is teaching us. We can become so caught up in our day-to-day survival modes that we miss golden opportunities to make a difference to someone else in our path. When we stop and make the time to be still and listen to our heart, our spirit, speak to us in meditation as we seek to hear The Spirit, we find we are more aware of our purpose in being here.
It’s not all about our accumulations, for the dying teach us that we take none of them with us. It’s not about how big our house is, but did we care for the homeless? It’s not about how expensive the restaurant is where we make reservations, but do we care about those who are hungry? It’s not about how perfect our lawn looks, but did we play ball with the children and grandchildren and make memories for them out there? It’s not about how toned and beautiful our bodies look, but have we compassion for those in the nursing homes, now weak and fragile, or those in pain as broken bones mend, or those weaker from disease?
The only thing we take with us, if you will, is the Love woven into the DNA of our souls of how we have treated one another. Have we been strong enough to forgive those who wounded us and too, to forgive ourselves for holding onto that memory or for wounding another? Shall we remember the healing comes in forgiving and releasing and moving forward? The hope is that we do not strive to be remembered for all we donated in dollars to a well-deserved recipient and a bronze plaque in our honor nailed to a wall. But let us be remembered for how we have unselfishly, quietly, humbly, served one another and our precious Earth.
Let us be very bold and live our authentic lives fearlessly! Don’t try to be someone else. Be You!! Let’s not wait thinking that someday we will be better. Choose to remember how precious and dear each day’s gift to you is. Embrace your God-given talents and your dreams and live sharing your gifts with all around you!
Who will marvel at your golden footprints when you are gone? Who?
Related Articles
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- The Galactic Free Press Update: Exciting Time to Be On Planet Earth=Heart (aquariusparadigm.com)
