Category Archives: Genetic Medicine

Enlarge / The jaw of the El Sidron individual found to be consuming poplar and Penicillium-containing vegetation.

Paleoanthropology Group MNCN-CSIC

Around 50,000 years ago in Spain, a Neanderthal had a toothache and popped the botanical version of an aspirin. Maybe. Although it's far from clear-cut, theres evidence from old teeth that hints at the possibility.

It's part of a study of Neanderthal diet, courtesy of their poor dental hygiene. Published in Nature, an analysis of preserved dental plaque from three different Neanderthals provides an intriguing glimpse into what theyput in their mouths. According to the authors, the analysis points to regionally varied diets and suggests possible medicinal plant use.

But some of the DNA evidence is a little strange, suggesting evidence of species where they really shouldnt have been 50,000 years ago. There are some good explanations for why this could happen, but, like most exciting results, drawing conclusions from the evidence demands a little caution.

The stereotypical picture of Neanderthals paints them as hunting the woolly mammoth. Theres evidence to back up a Neanderthal diet as carnivorous as polar bears or wolves, write the researchers: archaeological and chemical data suggest mealsheavy in large herbivores like reindeer, woolly mammoth, and woolly rhinoceros.

But Neanderthal teeth tell a more nuanced story. Previous research has found that the wear patterns on their teeth suggest a varied diet with regional differences. And dental plaque has been used before to analyze the starches and proteins that were preserved in the plaque. These analyses suggest that Neanderthals were eating many plants, possibly including medicinal ones.

Butdental plaque canpreserve more than simple chemicals; genetic material from the food can be encased init. This allowed a team of researchers, led by Laura Weyrich at the University of Adelaide, to get an incredibly detailed look at what plant and animal species three individual Neanderthals had been eating. Two were from El Sidrn Cave in Spain, including thepotential aspirin-popper, while one was from Spy Cave in Belgium.

The results add to previous evidence suggesting that the Neanderthal diet was actually many different things, depending on where the Neanderthals in question lived. The Belgian followed the meat-heavy pattern, with genetic material from woolly rhinoceros, mushrooms, and wild sheep showing up in the dental plaque. Mammoth, reindeer, rhinoceros and horse bones in the cave tell the same story as the dental plaque: these were hunters.

The Spanish Neanderthals, on the other hand, seemed to eat largely mushrooms, pine nuts, and mossthe kinds of food youd get from foraging in a forest. One of them had a dental abscess, and this individuals teeth came up with the genome of a poplar tree that has high levels of salicylic acid, aspirins active ingredient.

Heres where it gets a little slippery. The species identified, Populus trichocarpa, is actually native to North America. It wouldnt have been present in Europe 50,000 years ago, says Quentin Cronk, a botanist with an interest in the poplar genome, who wasnt an author on this paper. But it does have a pretty close relative in Europe, Populus nigra.

Whats going on here, says ancient DNA researcherHannes Schroeder, could be one of two things. The first possibility is contamination. The authors were watching out for this, though, and eliminated the data from two other Neanderthals because there was evidence of contamination. The DNA they ended up analyzing showed all the signs of being properly ancient. The other possibility is that, because ancient DNA is degraded and its possible to analyze only short strands of it, the strands left in the dental plaque matched more than one poplar species.

As it happens, Populus trichocarpa has the best genome data available amongthe poplars. All the other species of tree and mushroom identifiedincluding another oddity, the Korean pinehave good genome-sequencing data available, too. This suggests that the little bits of DNA matched up with the genomes available in genetic databases and just locked onto the species that happened to be in the databases because they didnt have enough data in them to differentiate between different species.

The most likely explanation of this issue is that the reads come from a European species of Populus that is not adequately represented in current sequence databases, says Daniel Huson, one of the authors of the paper. Cronk agrees that this is likely, as does Schroeder.

Its a bit strange for the authors to have pinpointed a single, impossible species, rather than identifyingthe genetic remains as belonging to the Populusgenus. It doesnt cause too much of a problem for the evidence of what Neanderthals were eating, thoughmushrooms are mushrooms. A difference in species doesnt really change the evidence that these people were eating like vegans rather than Texans.

As for the medicinal claim, theres also some evidence of Populus nigra having medicinal properties. Whether or not the Neanderthal knew what these properties were while chowing down on poplar is a different, and possibly unanswerable, question. Some other primate species seem to do this, so it might not be as far-fetched as it seems.

For Schroeder, the evidencedoesn't seem likeespecially solid ground for a big claim like medicinal use. But Keith Dobney, one of the authors on the paper, thinks it all lines up so well that it invites the interpretation of medicinal use. The abscessed individual also had bacteria associated with diarrhea, as well as evidence of the antibiotic Penicillium mould, and it just seems a bit of a strange coincidence that we have one individual with all these things, he says.

With different diets come different oral bacterial cultures. You eat a lot of meat, you get a lot of meat-digesting bacteria in your mouth. Weyrich and her team compared the Neanderthal oral bacteria to a modern human and a group of ancient humans from different cultures.

They found that there were different groupings of oral microbiomes: the SpanishNeanderthals grouped with chimpanzees and ancient African gatherers, in what the researchers called a forager-gatherer group with a largely vegetarian diet. The Belgian Neanderthal grouped more closely with the typical meat-heavy hunter-gatherer diet. Amodern human and early agriculturalist human also had different profiles.

The result helps us understand modern human oral microbiomes in context, says Dobney. Our current food-related health problems, like obesity, didnt happen in a vacuum: it hasnt happened overnight; its part of the journey that weve been on for thousands of years. Major cultural changes like the beginnings of agriculture are still impacting our health today.

As for Neanderthals, he hopes evidence of theirimportant place in our own historyin terms of behavior, genome, and microbiomecan help end the common perception of them asthese knuckle-dragging cavemen able to do not much more than bring down the odd bison here and there. The evidence is pointing toward varied behavior across the Neanderthals, and were starting to be able to get closer to inferences about the sophistication of their behavior and culture.

Nature, 2016. DOI: doi:10.1038/nature21674 (About DOIs).

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Neanderthal teeth tell tales of diet and medicine - Ars Technica

March 7, 2017 Dr. Moreno's team. Credit: IDIBELL

Researchers of the Colorectal Cancer research group of Bellvitge Biomedical Research Institute (IDIBELL), led by Dr. Vctor Moreno, and linked to the Catalan Institute of Oncology (ICO), the University of Barcelona (UB) and the Epidemiology and Public Health CIBER (CIBEResp), have issued the first predictive risk model of colon and rectal cancer based on Spanish data that combines genetic and lifestyle information. Their work, published by Scientific Reports, highlights the importance of improving lifestyle to reduce the risk of colon cancer and suggests to use a combination of lifestyle and genetic information to subdivide the population into different groups according to their colon cancer risk, which would fine tune the current screening method.

"A risk model is a mathematical tool that allows us to predict who is most likely to suffer from a particular disease, in this case colon cancer," explains Dr. Moreno, head of ICO's Cancer Prevention and Control Program. In order to develop this model, the researchers used data from the 10,106 participants included in the "MCC-Spain" Spanish multicentre study, carried out collectively by researchers belonging to CIBEResp. All of them were interviewed to analyze known risk factors (diet, physical exercise, body mass index, alcohol and family history of cancer, among others) and in a subgroup of 1,336 cases of colorectal cancer and 2,744 controls a blood test was performed to detect the genetic predisposition to develop colon and rectal cancer.

With all this information, the research team concluded that lifestyle influences cancer risk more than genetics. They calculated that if a risky lifestyle choice is changed (for example, if a healthy weight is obtained), this can compensate for having 4 genetic risk predisposition points (risk alleles). "This is important considering that lifestyle, unlike genetic traits, is somewhat modifiable, while genetic susceptibility is inherited from our parents", says Dr. Gemma Ibez, a digestologist and first author of the study; "In fact, the items we have identified as risk markers correlate with the recommendations set by the European Cancer Code to reduce the risk of cancer."

"Today, screening for colon cancer in patients with no family history is based solely on age. If we include information about lifestyle and genetics, we could classify the population into groups of greater or lesser risk, which would allow us to offer a more personalized follow-up", adds Dr. Moreno, who is also a professor at the UB Faculty of Medicine and Health Sciences.

At the moment, the research team that participated in the study is conducting a new study called COLSCREEN: "Personalization of the risk of colorectal cancer" to, among other things, find out about the social perception about genetic screening. "There are no studies that say what patients think about genetic tests, or whether they want to be informed of their chances of having certain diseases, and we think it is very relevant," says Dr. Ibanez. At the same time, with this new study the researchers want to evaluate the utility of the risk score system for colon cancer by applying it prospectively in the population of Baix Llobregat.

Explore further: Men with high genetic chance of bowel cancer could have lower risk with healthy lifestyles

More information: Gemma Ibez-Sanz et al, Risk Model for Colorectal Cancer in Spanish Population Using Environmental and Genetic Factors: Results from the MCC-Spain study, Scientific Reports (2017). DOI: 10.1038/srep43263

Men with a high genetic risk of developing bowel cancer over the next 25 years could have a lower risk of developing the disease if they also have a healthy lifestyle, according to a Cancer Research UK-funded study published ...

(HealthDay)While it's well known that healthy living can lower the odds for colon cancer, a new study finds it's even true for men whose DNA puts them at high risk for the disease.

Researchers have identified common genetic traits that may explain how aspirin can help protect against colon cancer.

Precision medicine's public face is that of diseaseand better treatments for that disease through targeted therapies.

Men are more likely to develop colorectal cancer or its precursors than women. A new study conducted by MedUni Vienna shows that known risk factors do not explain this difference between the sexes. However, the research team ...

(HealthDay)Incorporation of a genetic risk score can improve the accuracy of colorectal cancer (CRC) risk determination, according to a study published in the June issue of Gastroenterology.

Mayo Clinic researchers have found that an experimental drug, LCL161, stimulates the immune system, leading to tumor shrinkage in patients affected by multiple myeloma. The findings are published in Nature Medicine.

For all the success of a new generation of immunotherapies for cancer, they often leave an entire branch of the immune system's disease-fighting forces untapped. Such therapies act on the adaptive immune system, the ranks ...

Two key proteins involved in male breast cancer have been identified by University of Leeds scientists, potentially paving the way for more effective treatments.

Doctors may soon be able to detect and monitor a patient's cancer with a simple blood test, reducing or eliminating the need for more invasive procedures, according to Purdue University research.

A protein has been found to have a previously unknown role in the ageing of cells, according to an early study by Queen Mary University of London (QMUL). The researchers hope that the findings could one day lead to new treatments ...

Genetic mutations can increase a person's cancer risk, but other gene "enhancer" elements may also be responsible for disease progression, according to new research out of Case Western Reserve University School of Medicine. ...

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Lifestyle choices condition colon and rectal cancer risk more than genetics - Medical Xpress

Genetic Testing Abused by Patient with Factitious Disorder Monthly Prescribing Reference (registration) In 1786, these tales were fictionalized and published in The Surprising Adventures of Baron Munchausen, by Rudolf Erich Raspe.1 The medical profession has since borrowed the name of this famous raconteur to describe a group of individuals whose ...

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Genetic Testing Abused by Patient with Factitious Disorder - Monthly Prescribing Reference (registration)

Sickle cell disease. Image: Flickr

Sickle cell disease is a slow, vicious killer. Most people diagnosed with the red blood cell disorder in the US live to be between 40 and 60. But those years are a lifetime of pain, as abnormal, crescent-shaped hemoglobin stops up blood flow and deprives tissues of oxygen, causing frequent bouts of agony, along with more severe consequences like organ damage. Now, after decades of searching for a cure, researchers are announcing that, in at least one patient, they seem to have found a very promising treatment.

Two years ago, a French teen with sickle cell disease underwent a gene therapy treatment intended to help his red blood cells from sickling. In a paper published Thursday in the New England Journal of Medicine, the researchers revealed that today, half of his red blood cells have normal-shaped hemoglobin. He has not needed a blood transfusion, which many sickle cell patients receive to reduce complications from the disease, since three months after his treatment. He is also off all medicines.

To reiterate, the paper is a case study of just one patient. Bluebird Bio, the Massachusetts biotech company that sponsored the clinical trial, has treated at least six other trials underway in the US and France, but those results have not yet been fully reported. The gene therapy has not worked quite as well in some of those other patients; researchers say they are adjusting the therapy accordingly. It is also possible that the boy may eventually experience some blood flow blockages again in the future.

The results, though early, are encouraging. They represent the promise of new genetics technologies to address a disease that has long been neglected and tinged with racism. Sickle cell disease affects about 100,000 people in the US, most of whom are black. It is an inherited genetic disease caused by a mutation of a single letter in a persons genetic code.

This single-letter mutation makes it a promising candidate for cutting edge technologies, like the gene-editing technique CRISPR-Cas9, and other gene therapies. Recently, a rush of new research has sought to address it. Two other gene therapy studies for sickle cell are underway in the US one at UCLA and another at Cincinnati Childrens Hospital. Yet another is about to start in a collaboration between Harvard and Boston Childrens Hospital. Last fall, researchers all demonstrated the ability to correct the mutation in human cells using CRISPR, though that strategy will yet have to surpass significant scientific and political hurdles before reaching clinical trials.

In the new study, researchers took bone marrow stem cells from the boy and fed them corrected versions of a gene that codes for beta-globin, a protein that helps produce normal hemoglobin. The hope was that those altered stem cells would interfere with the boys faulty proteins and allow his red blood cells to function normally. They continued the transfusions until the transplanted cells began to produce normal-shaped hemoglobin. In the following months, the numbers of those cells continued to increase until in December 2016, they accounted for more than half the red blood cells in his body. In other words, so far so good.

Currently, the only long-term treatment for sickle cell disease is a bone marrow transplant, a high-risk, difficult procedure which many patients are not even eligible for. Pain and other side-effects are treated with blood transfusions for temporary relief. New technologies offer the hope of a solution that could provide long-term relief and allow patients to live some semblance of a normal life.

For decades, gene therapies have been touted as a cure for everything. But so far, successes have been infrequent, and often for very rare diseases. But early success in treating sickle cell disease means that soon, if were lucky, the benefits of this technology may reach hundreds of thousands of people.

[New England Journal of Medicine]

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Will Sickle Cell Be the Next Disease Genetic Engineering Cures? - Gizmodo

Merced Sun-Star

UC Merced professor finds genetic triggers related to cancer Merced Sun-Star Everybody has a similar set of genes, but what makes us unique is their activity and, in a way, how the information is expressed, Filipp said. Targeting those newly identified genes and pathways could give researchers a new avenue for precision ... and more »

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UC Merced professor finds genetic triggers related to cancer - Merced Sun-Star

The Scientist

Protecting Patients from Genetic Discrimination The Scientist In a 2015 article in the New England Journal of Medicine, medical geneticist Robert Green of Harvard analyzed the impacts of GINA seven years after the law's passage. He noted that virtually no cases of genetic insurance discrimination had been ...

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Protecting Patients from Genetic Discrimination - The Scientist