Institutional Review Boards

The role of the governments is to represent and protect the people. This applies when scientific research is being conducted as well. In that regard the most important role of government is to make sure that people’s lives are safe and human dignity respected. To protect human life and dignity the government requires that purposefully created bodies called Institutional Review Boards (IRB) approve the scientific research and written informed consent is obtained from people that will be subject of the study.

Informed consent is required to make sure that those patients that will be subjects of the study know all the benefits and risks as well as the costs that they may incur when participating in the study. In the field of medicine this will allow patient to be aware of the nature of the treatments, available alternative treatments, and risks and benefits related to such treatments. The client or patient must fully understand the treatment before the informed consent to have validity. Within the topic of ethics privacy and conflicts of interest are the most debated area in medical research. (1)

Without such approvals the research using human subjects cannot be conducted even though expected results may constitute breakthroughs in medicine that can save many lives. This is the case in USA and other developed countries. In general people in other countries agree with, support and even demand that their governments carry out the majority of these roles. In other cases especially in developing world where people are not fully aware and knowledgeable about their rights or where there are no institutions to protect human rights, conflicts of interests may prevail leading to research projects without the informed consent and IRB approvals.

These concepts have evolved with time and IRB and informed consents have not been know or honored before even in USA. Henrietta Lacks (1920-1951) is a patient of John Hopkins hospital who lived at a time when informed consent was simply a concept in its path to development and a time where IRBs were not present in governing and approving research protocols. In absence of informed consent and IRBs, there was a breach of confidentiality when Dr. Gey gave samples of Henrietta Lacks’ cells to any doctor or researcher who asked for. When Dr. Gey, Mrs. Lacks’ doctor discovered that her cancer cells didn’t die, he knew that her cells, the HeLa cell line would be instrumental to scientific breakthroughs and discoveries. He was right because for 60 years her cells provided the opportunity for scientists and researchers to make these discoveries.

Mrs. Lacks, however, was never told that her cells were being researched on or why her cells were taken at all. It is clear that this was a different era in medicine where permission to take a patient’s tissue sample for biomedical research purposes, and an informed consent, were non-existent. Henrietta Lacks serves as an example of a time before the protection of human subjects within studies. During this time period, though, many other patients never knew that their tissues were being used after they were cared for by doctors. (2)
Things are different nowadays, as patients are asked to sign an informed consent agreeing that the hospital owns the samples. It is important to keep in mind that Informed consent and IRB communities along with their guidelines are still evolving and improving. (3) Institutional review board committees or IRBs must find a balance between the protection of human ethical rights and encouraging innovative research that will benefit people in the future. (4) Without institutions like IRB committees and informed consent people would become fearful that they too can be used as a mere tool in biomedical research along with other studies. Mrs. Lacks’ story shows how important informed consent and IRBs are.

Unfortunately, people are still becoming victims of similar ethical violations. These individuals consist of the underprivileged and the medically illiterate.  Poor communication between the patient and doctor as well as low confidence levels of medical establishments are two key elements that lead to deficiency of an informed consent. Many underprivileged are suspicious of traditional medicine.

There is much controversy over IRBs because some believe that it restricts research and slows down progress of new medical discoveries or other possible forms of advances. Others believe that IRBs are necessary in protecting individuals from different forms of harm from the services they provide in helping researchers. When having access to an original consent, researchers argue whether a second or third consent is needed. There are individuals who strongly believe that donors should give a valid informed consent while others do not think that it is necessary if the samples are kept anonymous.

However, it is extremely important that people realize that IRBs are beneficial to both researchers and the participants in studies.  If it wasn’t for the existence of IRBs, the majority of the research that needs to be conducted with human subjects for medical discoveries would not happen because the government would not jeopardize the lives of humans to conduct a research that might not have any beneficial medical discoveries or the ‘possibility of a cure’. If IRBs were not in existence there would be some other form of restriction among studies. There has always been and will always be some challenge that researchers will have to overcome in order to complete their research. The IRBs were created so that scientists could conduct studies in order to make new medical discoveries while keeping people’s mental and physical health a main priority.   If researchers make it possible for their human subjects in developing countries or in US, to understand the reason for the study with its details along with the benefits of conducting the study then the subjects might be more helpful and willing during the procedure of donating.

The complications of such research include the need for awareness of local risks in the area, the presence of locals who understand the ethics and protocols of the research being conducted, and above all having the support of official researchers who are willing to abide by IRBs decisions and guidelines.


Satisfying both IRB (which includes ethical guidelines on human research) and the local, cultural, and socioeconomic factors of the developing country is very important because it can not only lead to an easier time conducting the research and having more people become donors but it could also lead to future opportunities to work with that developing country. If the US IRB shows respect for the developing country’s culture and traditions, making the human subjects the number one priority, then the research can gain a larger number of subjects and greater access to the resources they might need during the treatment.

1. http://fyb.umd.edu/2011/informed.html
2. http://www.hopkinsmedicine.org/news/publications/hopkins_medicine_magazine/hopkins_medicine_magazine_spring_summer_2011/web_extra_honoring_the_henrietta_lacks_legacy_at_hopkins
3. http://blog.acpinternist.org/2011/05/hela-hipaa-and-ethics-of-informed.html

http://www.hhs.gov/ohrp/assurances/irb/
 *I do not own these images, they were found on various tumblr sites. Please let me know if any are yours and I will give you credit for them. Thanks so much!

HTT & Its CAG Repeats

The scenario:  You are faced with a genetic dilemma. Your maternal grandfather died at age 65 of a known, inherited neurodegenerative disease. The HTT gene, that when

containing extra CAG repeats, encodes this disease. Currently, there is no cure for this disease. Presence of the repeat is easily detected by genetic testing. You have 3 other siblings: a brother who is 30, a brother who is 15, and a sister who is 18. What should one do? What are the basics one should know of the HTT gene and its incurable disease? 

Upon finding out that my maternal grandfather died at the age of 65 of a known, inherited neurodegenerative disease, I would inform my siblings that he died from Huntington’s disease that is caused by CAG expanded repeats in the exon 1 region of the HTT gene. This region encodes for a polyglutamine tract that starts from the N-terminus, which is located 17 residues away (Kraub 2013).

The Huntington Disease and Patient Counseling

The HD is a neuro degenerative genetic disease. It is characterized by lack of coordination and involuntary movements. Cognitive problems appear in later stages of disease and patients’ quality of life deteriorates up to the point where they need 24 hour assistance. Depression is common among people suffering from the disease. 

The Genetic Disorder and Mechanisms of Disease

This genetic defect on chromosome 4 causes excessive CAG repeats. Usually this repeat occurs 10 to 28 times, however those with this defect causes CAG to be repeated 36 to 120 times. (URAC 2013) This disease is characterized by progressive neuronal cell death. It progresses over time becoming fatal which lead to his death. It is a disorder passed down through families in which parts of the brain degenerate. (URAC 2013)

HD is inherited as a dominate trait so those who inherit homozygous HTT have similar signs as with those who are heterozygote for HTT including the symptoms, signs, or age of onset. (Kraub 2013)

Although in most cases the age of onset is 35 to 50, it is inversely correlated with the length of CAG expanded repeats. The CAG repeats bind to translation regulatory protein complex containing MID1, protein phosphatase 2A and 40S ribosomal S6 kinase. These repeats are translated into elongated polyQ stretches (Tobin 2000).

The size of the CAG repeat grows when MID1 binds to protein phosphatase 2A protein complex. This also stimulates the translation of the CAG expansion, protein phosphatase 2A and mammalian target of rapamycin- dependent manner. The MID1 complex may serve as a therapeutic target for the treatment of CAG repeat expansion. (Tobin 2000)

The higher the repeat numbers the lower the ages of onset for individuals. Those with 35 repeats of HTT or fewer do not develop HD. Individuals with 35 to 39 repeats may or may not develop Huntington’s disease. Repeats of 40 to 60 develop into HD when the individual reaches adulthood. In more severe cases, people who have 60 or greater repeats have onset before 20 years of age. (Kraub 2013)

Symptoms of those living with HD show altered energy metabolism in brain and muscle. (Kraub 2013).

Clinical symptoms and Quality of Life

Huntington’s disease causes motor, cognitive, and behavioral dysfunction. Choreatic movements are usually the first sign of Huntington’s disease. These are irregular, unpredictable, purposeless, rapid movements that flow randomly from one body part to another. The first signs also include motor dysfunction of the toes, fingers, and face. Eye movement abnormalities soon follow with slow saccades. (Tobin 2000)

It is relentlessly progressive where death occurs 15-20 years after symptom onset. Juvenile onset includes symptoms such as seizers, and rapidly progressive dementia. (Tobin 2000)

Diagnosis and Treatment

The treatment of HD consists mainly in treating and alleviating the symptoms and trying to preserve the quality of life as long as possible. The goal is to slow down the symptoms and help the person function and live a normal life. Supervision and treatment (such as DOPA blockers which aid in decreasing abnormal behaviors and movements) might be needed since depression and suicide are very common among person with HD. (URAC 2013)

Epidemiology and Prevention

The risk of getting HD from one parent suffering from HD is 50 percent. Inheriting the HTT gene from a parent will guarantee that the child will develop the disease at some point in their lives which will be passed on to their children. (URAC 2013)

Although there is no cure or no way to stop the disease from getting worse, it is crucial for family members to have their DNA tested for HD because as the gene is passed down through family generations, the number of repeats get larger and the risks of developing HD symptoms at a younger age increases. (URAC 2013)

For my brother that is 30 years of age, will develop symptoms in his mid 30s and 40s. This is the most common form of HD which is in adult onset. (URAC 2013)

For my 18 year old brother and 15 year old sister, it will be less likely that they will develop early onset form of HD there are only a small number of cases that begins in childhood or 

adolescence. (URAC 2013)

Once I have informed my siblings of our grandfather’s disease, I would encourage them to get tested and screened for risk of developing HD.

If any of my siblings were to have high risk or have the disease I would encourage them to get supportive counseling after the DNA testing whether or not they are symptomatic.

It is difficult to take the right steps in the pathogenic pathways of HD since there is no cure for the disease, as of yet. There are however, therapeutic interventions that target early steps in a pathogenic chain of events of those with HD. I would make sure that they are well informed and supported throughout the process.

Kraub, Syllibe, Susann Schweiger, Erich Wanker, Stephanie Dorne, Rainer Schneider, Nadine Griesche, Ewa Jastrzebwa, Desiree Rutschow, and Changwei Chen. "Translation of HTT MRNA with Expanded CAG Repeats Is Regulated by the MID1–PP2A Protein Complex." Translation of HTT MRNA with Expanded CAG Repeats Is Regulated by the MID1–PP2A Protein Complex (2013): 1723-2041. Nature. 26 Feb. 2013. Web. 10 Oct. 2013.

Tobin, Allan J., and Ethan R. Signer. "Trends in Cell Biology - Huntington's Disease: The Challenge for Cell Biologists." Huntington's Disease: The Challenge for Cell Biologists 10.12 (2000): 531-36. Trends in Cell Biology - Huntington's Disease: The Challenge for Cell Biologists. Web. 9 Oct. 2013.

URAC. "Huntington's Disease: MedlinePlus Medical Encyclopedia." Huntington's Disease (n.d.): n. pag. Medline Plus. U.S. National Library of Medicine, 22 Mar. 2013. Web. 11 Oct. 2013.

 *I do not own these images, they were found on various tumblr sites. Please let me know if any are yours and I will give you credit for them. Thanks so much!

Governments Role in Scientific Research

The role of the governments is to represent and protect the people. But most importantly the role of government is to make sure that human life is safe and people's dignity is preserved. In general people in various countries agree with, support, and even demand that their governments carry out the majority of these roles. In other cases they are deeply divided. Although it may lead to breakthrough discoveries that can save many lives, using embryonic stem cells for research is one of government roles that has deeply divided the constituency in two groups those that are in favor and the ones that adamantly are against embryonic stem cell research.

The opponents of stem cell research are convinced that embryonic cells are human beings and although in their earliest stages of development, their lives should be protected. In fact, if embryos are considered as living human beings they constitute the most vulnerable segment of populations the rights of which a good government should protect first.

There is a considerable number of people that have strong religious views or other reasons that make them feel offended if the government, that represents them and their ideals as well as their morals, instituted polices favoring the use of embryonic stem cells. Education, social status, and more importantly religious beliefs seem to heavily influence people opinions. The fact that embryonic stem research is banned in countries like Italy, Portugal, Ireland, Germany, Austria with their populations predominately Roman Catholics reflects the power that religious education and faith has on this matter.

Those who support the use of stem cells in scientific research believe that such research will lead to making organs from stem cells that can be transplanted into sick patients. But, by what means will this noble act be conducted?

This brings us to another topic that is closely related to stem cell research, organ transplantation and the market for organs. Today people have to endure long waiting periods for organ recipients and this shortage of organs puts their lives in danger everyday.This unavoidably can lead to instances where the rich in need for organs are willing to pay for these organs. In less developed countries there is evidence that the poor sell their organs. Then, there are worse cases in which illegal trafficking of organs are taken from individuals without their consent. (Anecdotal information has indicated that such events have occurred in some recent civil wars).

Those that willingly sell their organs such as a kidney to receive money to feed their family may do so without being fully informed of the consequences of such a procedure.

These examples stated above are considered illegal because the lives of those people whose organs are taken or sold are put in danger. It is the government’s job to protect the population against such actions. This is a valid argument that those who oppose stem cell research have and can use to defend their views about the role of government in protecting the lives of embryos.
Restricting guidelines and limitations on scientific research may therefore be necessary in order to maintain the safety of the population.

Egg donation in my opinion is different with regard to ethical aspect. Even though financial transactions are most of the time involved it is still justified. Two arguments can be used to support this view. The first relates to the question, is life destroyed in that act? The answer is no. In fact even though failure rates may be high the intention is to procreate. The second aspect of egg donation is the financial aspect of it. Women that donate eggs are being paid a sum of about $10,000. These are mostly related to the time or restriction in their lives to harvest the eggs and finally the intervention to capture the egg from the women' body.

Scientific research is the key to finding cures, conquering diseases, and to ultimately create a better future for mankind. Restricting research may make achieving such goals more difficult, but these challenges fund the research to take place in the most safe and cautious way possible.

I believe in scientific research and the promises it holds but I also believe that there will be future advancements in science that will make it possible for scientists to produce organs that will save lives without the use of embryos. Is it right to destroy embryos for others to live? We should respect the beliefs of those who oppose the use of embryos and continue to improve scientific technology so that one day scientists might be able to do such things without destroying human embryos.
  *I do not own these images, they were found on various tumblr sites. Please let me know if any are yours and I will give you credit for them. Thanks so much!

Eugenics Movement & Sterilization Practices

The eugenics movement strove to genetically improve the human population. The process consisted of identifying unfit individuals in society such as homosexuals, promiscuous women, mentally ill, and the impoverished and an elimination process was set forth. Many of these individuals and their family members were sterilized. This movement led to a new form of discrimination. Proponents of that movement believed that the power of science could solve the social problems that they faced at that time and Eugenics was their solution. The problem with the movement was multifaceted. Based on their race, health status or the state of carrying certain diseases (deafness, blindness, or other), or their behavior, people were grouped in certain categories some of which were stigmatized as unfit for the human race.

 
Ideological and scientific bases of Eugenics were unsupported and their philosophy including their methods were wrong, violating people’s rights and freedom to procreate and reproduce, the right to live, and have a family. Eugenics was ultimately a violation of human rights.

Proponents of eugenics and their leaders such as the board members failed to take into account the effects of social, political and environmental factors that have powerful influences on human behavior.

For instance, the son of a criminal is raised by a single mother working two jobs and shows her unconditional love for her son in every way possible. The son, therefore, through a strong parental figure, a home to come to, and unconditioned love, can decide that his father is far from the man he wants to become. Instead, the social failure, his father, becomes the sons motivation and drive to become a valuable member of society.
The example stated above, is just one possible instance out of many that occur in the world and social communities.  Although, such unfit individuals may overcrowd our hospitals, jails, or commit horrific crimes, they make people appreciate the value of an education, importance of role models, and significance of compassion towards others.

Instead of using the states money to sterilize and eliminate those that were unfit or social failures, they should have provided resources towards these individuals and their families that would give them the opportunity to become a valuable member in society that the life they were born into never gave them.

Francis Galton and his eugenics movement in essence strove to achieve something innately that we all want for ourselves- to be intelligent, healthy, athletically fit, and to ultimately live longer. In the end we are all still human. We are complex organisms, where our DNA is constantly changing creating errors in the process. It is our body’s age that prevents some of these genetic mutations in our DNA to be eliminated which can lead to cancer or disease.  We ourselves are not perfect beings so we cannot expect to sterilize people for the possibility of giving birth to a child that might become an unfit member of society.

 

 *I do not own these images, they were found on various tumblr sites. Please let me know if any are yours and I will give you credit for them. Thanks so much!

PGD the New Eugenics

Men are attracted to different women with different qualities such as appearance, intelligence, or any other characteristics that they value. The qualities that these women posses and the selection that people make for their decision of who they will marry and have children with is itself a process of selection of traits that people want for their children to ultimately inherit.

If possible to them, parents will always chose the best education for their children they can afford, and provide them with the best available resources, and if in any way possible, provide them with opportunities in life that will increase their children’s chances of survival and success in the world they are brought into. Increasing the chances of their child being born healthy is something every parent would try to achieve by any means available.

PGD gives parents the opportunity to select the most desired embryo after all genetic screening has been performed in several ones. No matter where such selection occurs, within a woman’s womb or in a test tube, the process involves discarding the “unwanted embryos”.

Although, eugenics restricts people’s freedom of reproduction through government control, I think that PGD is the new form of eugenics born in view of technological advancements which make possible that not only governments but other entities have the power of choosing to kill their embryos. I consider it as is morally wrong and unethical.

 The answer to the question why such selections are unethical depends on the purpose and technologies used. If science and technology make possible genetic testing and determination of traits in a man or women that could possibly cause any type of disorder in offsprings before the conception and embryo formation and the couple decided not to conceive that might be acceptable in my opinion. If such determinations are made in an embryo and parents decide to kill it; this is unethical. Likewise, I consider unethical the selection of the “best” embryo and discarding the others.

Couples who decide to use PGD in the expectation of having a child with no risk of development of future diseases such as diabetes 2 or cardiac heart disease is absurd because they would be ignoring environmental influences, and the mere fact that we do not have a full understanding of all the genes in our body especially the ones that could someday be at higher risk for developing a disease.
In the end, no matter how hard people can try, there will always be mutations in the germ line, unexpected defects, and unknown diseases that will occur.  With time, new diseases will be discovered and there can always be errors in genetic screening.

Those who tarnish or possess a threat to people’s perception of a utopian society would not be accepted and subsequently become socially isolated. I feel as though PGD is a new form of eugenics in that it would damage our society.  Through PGD, we as a society might become too focused in creating the ‘perfect’ embryo and disregarding the others for missing a desired gene, that we will lose a sense of compassion and that sensitivity that makes us human.

Individuals with fragile X syndrome, down syndrome and other genetic disabilities make the world a better place to live in. They are living proof that life can be fulfilling although they are not the same as everyone else. Should we have killed them once we learned that they had such diseases?

It is not wrong for a parent to want the best for their child whether it is in genetic advantages or tangible resources in the world, rather it is something very noble. However, the lengths to achieve these genetic advantages through PGD and killing embryos is not something that should be done unless screening for a known disease in family history.

Hot Lights, Cold Steel by Micheal J. Collins, M.D.

Hot Lights, Cold Steel by Micheal J. Collins, M.D.

A book that I highly recommend for anyone who is looking for a great read this fall. This book and the stories that are written in it will stay with you for the rest of your life.

If you are a pre-med student or medical student in the process of becoming a doctor, this is a book that you should definitely read if not have.

The book tells the story of Micheal J. Collins, MD 4 year surgical residency. In the story, Dr. Collin's starts out as a clueless first year resident to an accomplished chief resident. He sheds light on people's often misconception of a doctors glamorous lifestyles.

'Hot Lights, Cold Steel' by Micheal J. Collins, M.D.  It is a great book written by Micheal Collins, M.D. who writes about his experience as a resident in medical school.Not only does Dr. Collins brilliantly weave humor into his story but he also tugs at your heart strings at devastating situations he comes across during his residency. He talks about his growing family in the process of finishing school.


' Adored by readers and critics alike, Hot Lights, Cold Steel is a gripping memoir, at times devastating, often triumphant, but always compulsively readable. It has been translated into several different languages and is a modern classic in the field of medical memoir.'
                                                                                   ~http://www.michaeljcollinsmd.com/hotlights.php

Modern Medical Science & Immunizations

 Although immunizations have had a tremendous impact in reducing morbidity and mortality from infectious diseases over the last two centuries a considerable number of people have contrary opinions about the benefit of vaccines. In extreme cases they hesitate to vaccinate their children or refuse such procedures.
In my personal opinion I believe that immunizations are an important measure that protects individuals from many diseases. I also believe that vaccines are an important public health measure preventing the spread of diseases and outbreaks.

I asked three individuals with no biology background whether they would vaccinate their new born child or not. They all stated yes. When I asked why they would vaccinate their child, one stated that vaccinations would allow their child to live a longer life. The second interviewee stated that if their child was to get the flu or the common cold, they would have a strong immune system against a sickness that could happen to them with a change of season. The last individual stated that vaccinations prevented premature deaths.
Although the three individuals that I interviewed about their opinion on vaccinations stated they would vaccinate their child and had a general reason to do so, there are others who do not believe in vaccinations and are not aware of how greatly modern medical science has impacted our health in more ways than one. Diseases are becoming rare because of vaccinations. Eradication of deadly diseases such as small pox is the best example in favor of the crucial role of vaccines in public health. Polio is another example of a disease that has become eliminated in the United States.

There are also people who believe that, because they are born and raised in a developed country like the United States where illnesses such as malaria, tuberculosis, and human parasites are extremely rare that there is no need for vaccination. They may not be aware of the fact that millions of Americans travel from US to other parts of the world every years and are exposed to so many infectious diseases. If they catch any of such diseases unknowingly they become carriers and traveling could unintentionally bring an unwarranted disease to the United States which could then affect a non-vaccinated infant or child.

Vaccines, like any other medication, have their share of side effects. For example younger children are afraid or inject able vaccines may be painful. They can also trigger slight symptoms of the diseases they tend to prevent such as fever.  In the rare event that they may even cause serious complications such as allergic reactions or even brain damages. All these effects are rare and the benefits of vaccines heavily outweigh these risks.

 I am not sure whether vaccination should be regulated or forced by law, but the media, public policy and public health officials at all levels, health care providers, and other entities should conduct a continuous educational campaign to assure that every child or citizen get vaccinated for the age related diseases to protect themselves and the wide public. In order to eliminate any uncertainty about vaccinations, we need to educate people through announcements on the radio, via social networks, posters, and television commercials. Also, I strongly believe that children need to be exposed as early as possible about the benefits of modern medical science such as in this case the benefits of vaccinations.