A teen cancer survivor helped scientists make a huge breakthrough in research involving her own extremely rare disease.
At 12 years old, Elana Simon was diagnosed with Fibrolamellar Hepatocellular Carcinoma. Currently, the only treatment that has any positive effect on this disease is surgery.
The now 18-year-old, along with her father Dr. Sanford Simon, who himself runs a cellular biophysics lab at New York’s Rockefeller University, Dr. Michael LaQuaglia, surgeon at Sloan-Kettering Cancer Center, a team of gene specialists, and another anonymous survivor of the disease, all co-authored the study that made a breakthrough in the fight against this rare cancer.
“The team reported their breakthrough Thursday in the journal Science, saying they'd found a break in genetic material that left the "head" of one gene fused to the "body" of another,” reports the Parent Herald. “The result was an irregular protein formation inside the tumor but not in normal liver tissue, possibly leading to cancer growth.”
The study is extremely small, as only 15 tumors have been tested, but the abnormality has been found in all of them. Currently, the National Institutes of Health is helping Simon and her team find more participants for the study. On average, only 200 people a year are diagnosed with Fibrolamellar Hepatocellular Carcinoma, and most are adolescents or young adults.
Police in St. Charles, Missouri say that a 22-year-old former college wrestler has been arrested after having sex with over 30 people and not informing them that he was HIV-positive.
Michael Johnson has been charged with exposing sexual partners to HIV, and now, authorities say they have videos of some of his sexual encounters as proof.
“On that laptop were 32 videos engaged in sexual acts with Mr. Johnson,” said St. Charles County prosecutor Tim Lohmar. “It’s safe to safe that numerous of those videos were taken inside his dorm room; we know that because we recognize the furniture.”
Johnson was arrested back in October after one of the victims went to police to report what was going on. More victims have since come forward, and all of them have been tested. Many of the victim’s tests have come back negative while others are still awaiting results.
"Obviously, for a victim to come forward is something that takes a lot of courage," said Lohmar. "They also have to know that they are going to be part of this public prosecution."
According to reports, around 32 different men are said to have been exposed to HIV at the hands of Johnson. It’s believed that Johnson met most of the victims on social media, which authorities say he is very active on. Johnson was initially charged with just one count of risking infection of another with HIV, but since October, he has been charged with four different felony counts.
Police are currently trying to identify all of the victims in the sex tapes.
Pope Francis has, in his short time as leader of the Catholic Church, won over the hearts of people all over the world, many not even Catholic. From his more progressive views on social issues like homosexuality and abortion to his personal ambition to live more like Jesus Christ than like royalty, Pope Francis is already idolized by many.
Now, in recent pictures taken from a display at St. Peter’s Square in Vatican City, Pope Francis is shown kissing the face of a man with severe neurofibromatosis. The man, who is shown in the photos being held and kissed by the Pope, has hundreds, maybe even thousands, of tumors all over his skin. The Pope is seen kissing him on the head, despite the tumors on the man’s face, and also prayed for him on the spot.
Many are comparing Pope Francis’s act of kindness in St. Peter’s Square to that of Jesus Christ healing the leper, as depicted in the Christian bible.
The moving pictures show a man of compassion, love, and generosity who clearly isn’t getting caught up in the power bestowed to him as leader of the church.
Earlier this week, Pope Francis made headlines again after asking Bishops from around the world to fill out a survey regarding same-sex families in their church communities. He then invited them to the Vatican to discuss the matter, which one can gather was to determine how to church can better be a part of the lives of gay families.
The name of the man in the photos is unknown, but it has been reported that he suffers from neurofibromatosis, which is characterized as causing painful tumors to develop all over the skin.
The Centers for Disease Control and Prevention (CDC) announced on Monday that a new report now shows the number of people who die annually as a result of drug-resistance superbugs. The number, a staggering 23,000, comes as the CDC recognizes the need for immediate action.
“For organism after organism, we’re seeing this steady increase in resistance rates,” said CDC director Dr. Thomas Frieden in an interview with Reuters. “We don’t have new drugs about to come out of the pipeline. If and when we get new drugs, unless we do a better job of protecting them, we’ll lose those, also.”
The new report says that the overprescribing of antibiotics is to blame for antibiotic resistance that certain resistant superbugs are being considered an “urgent threat.” Three of the most serious and urgent, according to the report, include an antibiotic-resistant form of gonorrhea, Clostridium difficile infections, and carbapenem-resistant enterobacteriaceae, or CRE, which Frieden calls a “nightmare.”
In addition to naming the drug-resistant superbugs, the CDC report advises specific action that should be taken in order to try and stop this, including being on top of immunizations, cleanliness and basic health precautions, using antibiotics less frequently and only when really needed, tracking drug-resistant bacteria more closely, and advancing the development of new drugs that can potentially treat these diseases.
Frieden says that action should be taken immediately to help fight these drug-resistant diseases.
“It’s not too late,” he said. “There are things we can do that can stop the spread of drug resistance. We need to scale up the implementation of those strategies.”
The report finds the nearly 2 million people are diagnosed with the drug-resistant bacterial infections every year, and among those diagnosed, at least 23,000 die on average.
The number of valley fever cases, a sometimes lethal fungal infection, has risen by more than 850 percent in the United States from 1998 to 2011 because of warming climates, according to the Centers for Disease Control and Prevention.
The disease is especially hard-hitting in California, Arizona and New Mexico, where fungus-laced spores can easily be inhaled in dusty fields or at construction sites. Once inhaled, the fungus can spread to various parts of the body causing blindness, skin abscesses, lung failure and even death.
Valley fever, also known as Coccidioidomycosis, remains a major cause of death in the United States, according to a study at the University of South California. Between 1990 and 2008 there were 3,089 documented deaths nationwide caused by it, nearly twice the number reported by the CDC in the past.
About 150,000 cases go undiagnosed every year because the disease is difficult to detect and there is little awareness of its existence. It gained interest only last week when inmates from Central Valley prisons were transferred after an outbreak.
"If the state is so concerned about prisoners, they should be worrying about all of us who live and work in the valley," said Kathy Uhley, a former realtor from Los Banos who contracted the fever last year.
California public health officials say they are training the public and doctors, many of whom come from out of state, to recognize the disease. The increase in reports of the disease is due in part to the state’s education of medical practitioners.
"When I found out that health officials knew about (this disease) and how common it is, I was beside myself," said Dale Pulde, a mechcanic who contracted valley fever and was forced to sell his house to pay for treatment. "Why don't they tell people?"
Doctors and patients have called for greater attention to valley fever, including funding research for a cure.
A potentially deadly type of superbug, Carbapenem-resistant enterobacteriaceae, has prompted government health officials to renew warnings for U.S. nursing homes, hospitals and other health care settings.
Unusual forms of CRE are extremely dangerous because they are resistant to nearly all last-resort antibiotics. Israeli researchers are reporting that it can take carriers of some forms of CRE more than a year before they test negative for the bacteria. This obviously makes the superbugs harder to control and raises the risk that they will spread.
The Center for Disease Control and Prevention reports that unusual forms of CRE in the U.S. are on the rise. Of 37 cases of rare forms of CRE, 15 have been reported since last July. “This increase highlights the need for U.S. health care providers to act aggressively to prevent the emergence and spread of these unusual CRE organisms,” the CDC said in a health advisory.
According to Vitals, CREs usually strike people who are already ill. They especially prey on those who require devices such as ventilators or catheters or people have been taking antibiotics for a long time. However, they can infect any patient.
The CDC's Dr. Alex Kallen, a medical epidemiologist and outbreak response coordinator in the agency’s Healthcare Quality Promotion division, is especially concerned by the appearance of NDM, a particularly worrisome CRE. NDM is resistant to multiple drugs and can easily be transmitted to other types of bacteria.
Right now the CDC is focusing on discovering evidence of CRE infections. “Our main objective is to slow or stop the spread in places where we can identify them,” said Kallen. “Right now, the therapeutic options are very limited.”
Since the situation has the potential to be so serious, CDC officials are hoping that simply raising awareness among the general public as well as the health care providers is key.“I can’t predict the future, of course, but there is a concern that we can see more of these as they spread,” Kallen said. “This can become a community bug.”
The New York Times headline summed up a recent PNAS article quite well: “Mice Fall Short as Test Subjects for Humans’ Deadly Ills.” Gina Kolata begins the NYT article by saying:
For decades, mice have been the species of choice in the study of human diseases. But now, researchers report evidence that the mouse model has been totally misleading for at least three major killers — sepsis, burns and trauma. As a result, years and billions of dollars have been wasted following false leads, they say.
The article in question is titled: “Genomic responses in mouse models poorly mimic human inflammatory diseases,” and is authored by more than 20 scientists. The abstract reads:
A cornerstone of modern biomedical research is the use of mouse models to explore basic pathophysiological mechanisms, evaluate new therapeutic approaches, and make go or no-go decisions to carry new drug candidates forward into clinical trials. Systematic studies evaluating how well murine models mimic human inflammatory diseases are nonexistent. Here, we show that, although acute inflammatory stresses from different etiologies result in highly similar genomic responses in humans, the responses in corresponding mouse models correlate poorly with the human conditions and also, one another. Among genes changed significantly in humans, the murine orthologs are close to random in matching their human counterparts (e.g., R2 between 0.0 and 0.1). In addition to improvements in the current animal model systems, our study supports higher priority for translational medical research to focus on the more complex human conditions rather than relying on mouse models to study human inflammatory diseases.
This is essentially what Niall Shanks and I have been saying for over a decade.
The paper, published Monday in Proceedings of the National Academy of Sciences, helps explain why every one of nearly 150 drugs tested at a huge expense in patients with sepsis has failed. The drug tests all were based on studies in mice. And mice, it turns out, can have something that looks like sepsis in humans, but is very different from the condition in humans. . . . “This is a game changer,” said Dr. Mitchell Fink, a sepsis expert at the University of California, Los Angeles, of the new study.
I assure you, this will not be a game changer. Why? Kolata:
The study’s investigators tried for more than a year to publish their paper, which showed that there was no relationship between the genetic responses of mice and those of humans. They submitted it to the publications Science and Nature, hoping to reach a wide audience. It was rejected from both.
More on why in a moment.
This is not the first study to conclude that animal models of human disease fail to mimic human response to drugs and disease. (See [1-4] to mention but a few. See this blog and Animal Models in Light of Evolution for more.) Nor will it be the last. What science is good at, or I should say, among the many things that science is good at, is looking at diverse examples and coming up with an explanation for why all the data exists. In the physical sciences, scientists can look at regularities in the material universe and discover laws. Newton’s laws of motion, the laws of thermodynamics and so forth are examples. But in biology, laws are difficult because of things like chaos and complexity, among other reasons. Because the biological sciences are more statistics-based, they rely on theories. But a theory in biology is more than just a hypothesis. The National Academy of Sciences (USA), explains theory as follows:
In everyday usage, “theory” often refers to a hunch or a speculation. When people say, “I have a theory about why that happened,” they are often drawing a conclusion based on fragmentary or inconclusive evidence. The formal scientific definition of theory is quite different from the everyday meaning of the word. It refers to a comprehensive explanation of some aspect of nature that is supported by a vast body of evidence. Many scientific theories are so well established that no new evidence is likely to alter them substantially. . . . One of the most useful properties of scientific theories is that they can be used to make predictions about natural events or phenomena that have not yet been observed [p11]. (Emphasis added.)
The Germ Theory of Disease is a case in point. Many humans were dying from seemingly very different things. But the 19th century scientists figured out that all of the deaths were related. They were all caused by germs. Scarlet fever, hepatitis, whooping cough, sepsis, tetanus, and rabies, although causing symptoms that varied, were all caused by a group of organisms referred to as germs.
What Shanks and I have tried to do is find an explanation that accounts for all the failings of animal models as well as the successes (see Animal models and conserved processes for how to predict what will and what will not work in terms of animal models.) This would be the vast body of evidence referred to by the National Academy of Sciences. We have sought, and proposed, a theory. Put succinctly, our theory states that animals and humans are examples of evolved complex systems that are differently complex. If you understand complex systems and you understand evolutionary biology, that one sentence is all that is needed to explain why the PNAS paper on mouse models is a fact of the material universe as well as the other papers that come to similar conclusions. It also explains why some animal models function well for things other than predicting human response to drugs and disease. (For a broader and deeper examination of the issue, see our published works.)
But it takes time for even non-threatening theories to be accepted by the scientific community. This is why the PNAS paper will not be game changer. Kolata on the rejection of the article by top journals:
Still, Dr. Davis said, reviewers did not point out scientific errors. Instead, he said, “the most common response was, ‘It has to be wrong. I don’t know why it is wrong, but it has to be wrong.’ ” . . . “When I read the paper, I was stunned by just how bad the mouse data are,” Dr. Fink said. “It’s really amazing — no correlation at all. These data are so persuasive and so robust that I think funding agencies are going to take note.” Until now, he said, “to get funding, you had to propose experiments using the mouse model.”
Research in biomedical science is not a sacred thing. It revolves around money and ego, and facts rarely affect the status quo very quickly. Scientific research, especially biomedical research where so much money is involved, is no different from selling widgets. It is all about the bottom line. Universities keep roughly 50% of every biomedical research grant dollar that animal-based research brings in. Considering the fact that some universities see hundred of millions of dollars in animal model-related grants each year, their cut is in the hundred million dollar range. That's motivation! [6-11]
Science and medicine are no different from any other human enterprise in that both are conducted by humans that have human nature. Graduating from medical school or a PhD program does not change basic human nature. Money is as important to doctors, scientists, and researchers as it is to plumbers, engineers, and day laborers. Honesty and altruism operate under the confines of human nature in all humans regardless of education and profession. It is naïve to think a white coat makes a person undefiled by normal human passions.
The strength of a scientific position or piece of information can be judged by consilience; how well it fits into the web of other knowledge. If you think of the sum total of scientific information as a network and with each factoid, law, and or theory as a node then the probability that any individual item is true can be judged by how many connections it has. For example the node representing the Theory of Evolution has millions of connections to other nodes while string theory node has far fewer and homeopathy has essentially none. The PNAS article points out the fact that mice are poor models for sepsis, trauma, and burns while other article have shown that animal models in general are not predictive for carcinogenesis or Alzheimer’s or heart disease. This raises the question: “Is there something that connects all this?” The answer is: evolved complex systems theory. An appreciation for the fact that animals and humans are differently complex systems secondary to evolution allows us to predict success and failure of animal models. One will most certainly find examples of humans and animals responding the same way to drugs and disease but such instances will be unpredictable and, even with the same symptoms, the mechanisms may differ. Animal models per se will never be predictive modalities for human response to drugs and disease.
A comment by James Watson is appropriate at this time:
“Oh sure, I knew it would cause trouble," says [James] Watson, eyes widening with unabashed glee. "I said most scientists are stupid.” He pauses, furrowing his brow in an effort to quote himself accurately. “The fact is most scientists act as though they are stupid because they are wedded to some approach they can't change, meaning they are moving sideways or backwards.” 
That is pretty much our position regarding the use of animal models to predict human response to drugs and disease. The researchers and universities that use animals will never support our position. Not because our position is false but because their bottom line depends on using animals. Scientists who do support our position will not actively campaign on the issue as they have friends, family, and maybe even members of their own department who use animals. Even if these conditions are not present, it takes quite a bit of courage to rock a multibillion-dollar boat. The repercussion will be great and most scientists, or most people for that matter, do not seek out controversy for themselves.
Kolata concludes her article wit theme we have also articulated:
“This is a very important paper,” said Dr. Richard Hotchkiss, a sepsis researcher at Washington University who was not involved in the study. “It argues strongly — go to the patients. Get their cells. Get their tissues whenever you can. Get cells from airways.” “To understand sepsis, you have to go to the patients,” he said.
If you want to understand human response to drugs and disease, you must study humans. Who’d have thunk it?
1. Morgan, P, PHVD Graaf, J Arrowsmith et al. (2012) Can the flow of medicines be improved? Fundamental pharmacokinetic and pharmacological principles toward improving Phase II survival. Drug Discovery Today 17:419-424.
2. Taneja, A, VL Di Iorio, M Danhof et al. (2012) Translation of drug effects from experimental models of neuropathic pain and analgesia to humans. Drug Discovery Today 17:837-849. http://dx.doi.org/10.1016/j.drudis.2012.02.010. http://www.sciencedirect.com/science/article/pii/S1359644612000700.
3. Mullane, K, M Williams (2012) Translational semantics and infrastructure: another search for the emperor's new clothes? Drug Discovery Today 17:459-468. 10.1016/j.drudis.2012.01.004. http://www.ncbi.nlm.nih.gov/pubmed/22269133.
4. Zielinska, E (2010) Building a better mouse. The Scientist 24:34-38.
5. Committee on Revising Science and Creationism (2008) Science, Evolution, and Creationism. National Academy of Sciences, Washington DC.
6. Begley, S (2008) Coddling Human Guinea Pigs. In: Newsweek. PMCID.
7. Fitzpatrick, S (2011) Funding Biomedical Research. The Scientist:13.
8. Nathan, DG, AN Schechter (2006) NIH support for basic and clinical research: biomedical researcher angst in 2006. JAMA 295:2656-2658. 295/22/2656 [pii]10.1001/jama.295.22.2656. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16772630.
9. Dorsey, ER, J De Roulet, JP Thompson et al. (2010) Funding of US biomedical research, 2003-2008. JAMA 303:137-143. 303/2/137 [pii]10.1001/jama.2009.1987. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=20068207.
10. Boat, TF (2010) Insights from trends in biomedical research funding. JAMA 303:170-171. 303/2/170 [pii] 10.1001/jama.2009.1992. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=20068214.
11. Rice, MJ (2011) The institutional review board is an impediment to human research: the result is more animal-based research. Philosophy, ethics, and humanities in medicine : PEHM 6:12. 10.1186/1747-5341-6-12. 3127833. http://www.ncbi.nlm.nih.gov/pubmed/21649895.
12. Conant, J (2003) The New Celebrity. Seed