Here is what I am reading today:
“Should people be told about any nasty surprises that scientists discover in their DNA during research projects?
The question is becoming increasingly pertinent, as thousands of people sign up for studies in which their genomes will be sequenced. But, at present, federal laws in the United States prohibit researchers from telling patients about mutations that might affect them or their families unless a certified clinical lab has confirmed the results — something that is not done in most research projects. This means that patients often do not learn about their mutations until the studies are finally published, a restriction that is meant to ensure they are not misinformed by incomplete research.”
“The lead researcher, Marion Jalabert, Dr François Georges, and the multidisciplinary research team used in vivo electrophysiology, tract-tracing experiments, and targeted neuronal inactivation to successfully capture morphine activity in dopaminergic rat neurons. The project was made possible by collaboration between two groups with their own domain of expertise – in vivo electrophysiology by Georges’ team in Bordeaux and neuroanatomy by Michel Barrot’s group in Strasbourg.”
“The researchers used MRI scanners to scan the brain activity in 39 depressed people (23 female 16 male) and 37 control subjects who were not depressed (14 female 23 male). The researchers found the fMRI scans revealed significant differences in the brain circuitry of the two groups. The greatest difference observed in the depressed patients was the uncoupling of the so-called “hate circuit” involving the superior frontal gyrus, insula and putamen. Other major changes occurred in circuits related to risk and action responses, reward and emotion, attention and memory processing.
The hate circuit was first clearly identified in 2008 by UCL Professor Semir Zeki who found that a circuit which seemed to connect three regions in the brain (the superior frontal gyrus, insula and putamen) when test subjects were shown pictures of people they hated.”
“”Children normally inherit one copy of a gene from each parent. We had the tools to see whether copy number changes found in kids with autism were causing the syndrome,” explains Mills. In 2007, Professor Michael Wigler, also at CSHL, revealed that some children with autism have a small deletion on chromosome 16, affecting 27 genes in a region of our genomes referred to as 16p11.2. The deletion — which causes children to inherit only a single copy of the 27-gene cluster — is one of the most common copy number variations (CNVs) associated with autism.”
“American Bruce Beutler and French scientist Jules Hoffmann shared the 10 million-kronor ($1.5 million) award with Canadian-born Ralph Steinman, the Nobel committee at Stockholm’s Karolinska institute said.
Their discoveries have enabled the development of improved vaccines against infectious diseases. In the long term they could also yield better treatments of cancer, rheumatoid arthritis, type 1 diabetes, multiple sclerosis, and chronic inflammatory diseases, award committee secretary Goran Hansson told The Associated Press.”
14 Comments
efutak · October 6, 2011 at 3:15 pm
Hello Dr Freberg! My name is Eric Futak from PSY 340 and I wanted to comment on the Secrets of the Human Genome article. I believe that studies like Gohlson Lyons do not impede any ethical values; the only way it would be unethical is if the researchers were not telling the subjects when/if the results would be available, which I’m sure they would not be doing. The family Lyon studied new the implications and although there was one incident where it could have mattered, the research will still help in the future.
We also need to take into account the downstream costs that Ellen Clayton mentioned. Even if there is supportive evidence for something, it cannot be causal until everything in the experiment has been accounted for. Mistakes and loose ends are always possible. If you do publish results that turn out to be incorrect, there is a lot that must be undone that can cost time, money and even more peoples lives.
Thanks and have a good weekend!
Eric F.
lexi williams · October 7, 2011 at 11:58 am
The article about revealing secrets of the human genome deals with a very debatable topic. I recently took a Biomedical Ethics class at Cal Poly where we discussed many ethical issues similar to this one, and I learned how hard it is to balance increasing medical technology and human rights. In this case, I think that every research subject should have to sign a waiver at the start and say whether or not they would like important information revealed to them about their genomes. I also agree with Gholson Lyon that all researchers should should conduct their studies in certified laboratories. Increasing medical technologies give us a key component to increasing the well-being and quality of life for many, but its important to be aware that every advancement has its downfalls as well.
carlyk · October 9, 2011 at 2:32 pm
The article about the genetic basis of autism was a very interesting read. The exponential growth of autism in recent years has left our medical world in desperate search for any type of answers. The findings that propose the link between a chromosomal deletion on chromosome 16 that deal with a cluster of 27 genes known as 16p11.2 and autism-like behaviors is very encouraging and offers some hope for further development of this possible link. It will be very interesting to continue to follow up with this research and see what else is discovered to see if we can somehow find a way to slow the rapid growth of this syndrome. It is my hope that one day we will be able to overcome this on-going battle and hopefully see the incidences of autism decline dramatically.
carlyk · October 9, 2011 at 2:52 pm
The article about depression and hate presented some interesting data and ideas. The study reported a 92% likeliness for the hate circuits to be de-coupled, a 92% likeliness for the risk/action circuits to be de-coupled, and a 82% likeliness for the emotion/reward circuits to be decoupled. Since those diagnosed with clinical depression are often described as maintaining an attitude of self-loathing, it was interesting to see that they were actually less likely to display hate towards other people. One might think that since they are depressed, they may look upon others with even more hate because they may be jealous of their lives or feel insignificant when compared to them, however this was not the case in this study. I’m hoping to find out more about the physiological process that takes place for these circuits to become de-coupled and how that process arises.
Corrie · October 10, 2011 at 12:23 pm
The article about the human genome project brings up a lot of important ethical issues. We have access to an incredible amount of information now that we have the technology, however, we must use this information carefully. Clear procedures need to be made to deal with privacy, and the release of confidential information. As it is, potentially life changing information is withheld from patients in order to have legitimate conformation that the test is valid. I agree with Gholson Lyon that certified laboratories are necessary for all research, it would be much more damaging to report false information than to temporarily withhold verified facts. Further, if a person chooses to have their genome sequenced they should understand that they might discover something very upsetting (like Huntington’s disease or possible birth related mutations).
annieaitken · October 10, 2011 at 3:12 pm
The article pertaining to autism seems like a good step forward for trying to find out the cause of autism. It does seem difficult, however, to compare behaviors of mice to humans in this situation. It is also interesting that the mice without the gene died soon after birth, because this does not seem to be the case with people who have autism. More than just understanding autism, I think the study’s most impressive feature is that of being able to connect certain genes to brain functions. Regardless, I think this study was very beneficial beginning to understand autism and hopefully how to cure it.
mfitzpatrick · October 10, 2011 at 4:07 pm
The article about autism really surprises me, oddly enough. I have an autistic brother who’s 11 years old, and after 17 years of hearing about his state of being and predictions as to why this happened, I have never really thought or heard that autism could be due to heritable traits or unformed or abnormally formed chromosome structure. I have heard about predictions of vaccinations being the cause but nothing like this. Although I feel there is still much to study and inquire with autism and its cause and effects, I feel that this observation of deformed heritable chromosomes being a cause is quite a break through. I really look forward to hearing about the revealing of other hypotheses’ and observations that could lead to the truth behind autism.
mfitzpatrick · October 10, 2011 at 4:23 pm
The article about the secrets of the human genome was rather disappointing and scary for me. I expect these experts doing tests or experiments on me, me a volunteer or a very minuscule-paid citizen devoting their time to better human life, health, and society, to be truthful, considerate people. Giving this researcher the opportunity to make new discoveries, I would expect morals to come into play. If someone professional, clinical or not, has a hunch about the possibility of the loss of a life due to a mutation of a gene or such, then a reference should be given to another expert who can verify. I was deeply saddened that researchers allowed the children discussed in the study to pass. Who cares about rules and protocol.
lexi williams · October 11, 2011 at 8:07 am
Wow, the Nobel Prize winners of 2011 are truly talented. I am anxious to see how the production of these different types of vaccines affects various disease prevention. I am interested in following the details of the research as these men attempt to unveil one of the greatest challenges of all time. I am also interested to research further about how dendritic cells activate T-cells. I have never heard of dendritic cells (sounds like “dendrite”?). I was also interested to hear about the different levels of immune response. I have never taken an immunology course, and wish I knew more about B, T, and helper T-cells in general, but the terms “innate immune response” interested me as well. I may have to follow the progress of these geniuses…
Corrie · October 11, 2011 at 6:26 pm
It is understood that depression has negative effects on health and thinking patterns, and I was not surprised to learn that abnormal electrical brain activity is a source of some of these problems. I think we can learn a lot about how to treat depression by looking at studies like the one discussed in the article about decoupling. The study reported a 92% likeliness for the hate circuits to be de-coupled, a 92% likeliness for the risk/action circuits to be de-coupled, and a 82% likeliness for the emotion/reward circuits to be decoupled. These are very significant findings and I woud be interested to know if the decoupling is permanent or if it can be reversed. If the participants were treated effectively for their depression maybe their brain activity could return to normal. I also wonder how this brain activity ties to evolutionary psychology, is it adaptive for the brain to cope with depression this way? The more specifics we know about brain activity in relation to specific disorders the more targeted treatment can be.
maiacapello · October 12, 2011 at 5:23 pm
The noble peace prize for medicine has been distributed to three scientists by the names of Steinman (Canada), Beutler (USA), and Hoffman (France). This award was given to them for the development of improved vaccines against infectious disease. This development could lead to further discoveries against high threatening and deathly diseases such as: cancer, arthritis, and diabetes. These men have explored why the immune system attacks its own tissue, which will allow us to answer many vaccine questions and further the medical knowledge on cures of infections. Personally I find this development fascinating because every human being will either personally be affected by one of these diseases, or will know somebody who has been. Research has led the medicine world to grow tremendously and expand the health of millions; scientists like these are the future of our well-being.
maiacapello · October 12, 2011 at 5:23 pm
The article regarding the studying of human genomes was very interesting. It is a federal law in the United States to prohibit researchers from telling patients about mutations that might affect them or the families unless a certified clinical lab has confirmed the results. It surprised me very much that this would be an issue here in this country where technology and science is accessible to a high degree. The story regarding the geneticist Gholson Lyon impacted me very much so. He had clear evidence that there was a genetic mutation present when researching a specific extended family. After infants passing away with cardiac disease related to the genome patterns, when the geneticist found out about a mother from the particular family being pregnant, his research was not official enough to make a statement. I think that it is important to be aware of federal laws such as this one, being an American citizen, and I believe that something should be done to eliminate any more doubts about something as important as this.
apwillia · October 15, 2011 at 12:30 pm
The new evidence for a gene deletion in mice possibly resulting in autistic-like behaviors shows promise in addressing what could possibly be a cause of autism. Advancing technology has led to some amazing breakthroughs in science. With the advent of the technique of chromosome engineering, scientists are getting closer to discovering the causes of autism. Fortunately for us, scientists can test out chromosome engineering on rats and obtain results that can be extrapolated to human genes. Obviously adding or deleting a gene is going to have negative side affects because it is a mutation of the original genome. The task of scientists now is to determine exactly which genes affect autistic behavior if they are added or deleted. This newest discovery obtained from mice will be extremely useful in diagnosing children with autism earlier on and could possibly lead to some treatments to target the specific gene.
Kbginger08 · October 22, 2011 at 4:17 pm
I found the article regarding autism and genetics particularly interesting. With the number of autistic diagnoses “growing”, it is interesting to hear it may be genetically related. While some individuals believe early childhood environment, such as vaccinations and toxins may be affecting autism, this article contrasts that idea. This means something in our genes could be affecting the number of autistic children. One reason why this may be occurring is that autism is part of the evolution of humans.
Comments are closed.