Genetics

Genetics of Height and Risk of Atrial Fibrillation: A Mendelian Randomization Study – DocWire News

Background

Observational studies have identified height as a strong risk factor for atrial fibrillation, but this finding may be limited by residual confounding. We aimed to examine genetic variation in height within the Mendelian randomization (MR) framework to determine whether height has a causal effect on risk of atrial fibrillation.

In summary-level analyses, MR was performed using summary statistics from genome-wide association studies of height (GIANT/UK Biobank; 693,529 individuals) and atrial fibrillation (AFGen; 65,446 cases and 522,744 controls), finding that each 1-SD increase in genetically predicted height increased the odds of atrial fibrillation (odds ratio [OR] 1.34; 95% CI 1.29 to 1.40; p = 5 10-42). This result remained consistent in sensitivity analyses with MR methods that make different assumptions about the presence of pleiotropy, and when accounting for the effects of traditional cardiovascular risk factors on atrial fibrillation. Individual-level phenome-wide association studies of height and a height genetic risk score were performed among 6,567 European-ancestry participants of the Penn Medicine Biobank (median age at enrollment 63 years, interquartile range 55-72; 38% female; recruitment 2008-2015), confirming prior observational associations between height and atrial fibrillation. Individual-level MR confirmed that each 1-SD increase in height increased the odds of atrial fibrillation, including adjustment for clinical and echocardiographic confounders (OR 1.89; 95% CI 1.50 to 2.40; p = 0.007). The main limitations of this study include potential bias from pleiotropic effects of genetic variants, and lack of generalizability of individual-level findings to non-European populations.

In this study, we observed evidence that height is likely a positive causal risk factor for atrial fibrillation. Further study is needed to determine whether risk prediction tools including height or anthropometric risk factors can be used to improve screening and primary prevention of atrial fibrillation, and whether biological pathways involved in height may offer new targets for treatment of atrial fibrillation.

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Genetics of Height and Risk of Atrial Fibrillation: A Mendelian Randomization Study - DocWire News

Genetics

Nurse advises Rotary of the benefits of genetic testing – El Dorado News-Times

The El Dorado Rotary Club hosted Tammy McKamie, a genetic certified nurse at the Christus St. Michael Health System in Texarkana, on Monday at their regular meeting, where she spoke about the health benefits of genetic testing.

McKamie, who has worked as a medical professional for nearly 40 years, is the only credentialed genetic certified nurse in Texas, and also serves patients from Arkansas. On Monday, she discussed her specialization in genetics and the role ones genes may play in determining whether they develop cancer during their lives.

While 90% of those who develop cancer do so because of environmental and lifestyle factors, such as smoking or being exposed to carcinogenic chemicals, McKamie said some people are at a heightened risk due to genetic factors.

Almost every person is born with 23 pairs of chromosomes, half of which are inherited from their biological mother and the other half of which are inherited from their biological father.

On each one of these chromosomes, there are thousands of genes. If I add up all the genes in this DNA, were going to have about 20,000 genes, and each one of those has a purpose, McKamie said.

Some of those genes purposes are to protect the individual from developing cancer, she said, a medical breakthrough that was discovered in 1994 during research for the Human Genome Project.

God gave us genes to protect us from cancer, McKamie said. We have two of each gene that theyve discovered so far. One gene may protect you from multiple cancers, so if ones defective, you may be at risk for multiple cancers.

Rotarian Art Noyes asked whether genetic predisposition to cancer may have been related to actress Angelina Jolies decision to undergo a double mastectomy (breast removal) several years ago.

Yes, Angelinas mother had ovarian cancer, so she had this genetic testing years ago, McKamie said. She did the genetic testing and she had a genetic mutation in one of these genes. Angelina had never had cancer, but she had the genetic predisposition toward it.

In Jolies case, McKamie said, there was likely a mutation of the BRCA 1 or 2 gene, which can heighten ones susceptibility to several types of cancers, including breast cancer, ovarian cancer, prostate cancer, colorectal cancer and other types.

For those who opt not to undergo preventative surgeries, like Jolies mastectomy, knowing of any genetic defects can still help medical professionals that care for them, since they will be aware of their increased risk level. Those who do have a genetic predisposition to some types of cancer should undergo earlier and more frequent screenings so that any cancer that does develop can be treated sooner, McKamie said.

If you started out with this defect, we would not wait til 40 (years old) to do a mammogram we would start much earlier, she said. Everybody knows that if you detect cancer early, youre more likely to survive it.

McKamie said a defect in the BRCA 1 or 2 gene can heighten a womans risk of developing breast cancer significantly. For someone without a gene defect, the risk at 40 years old is about 0.5%; at 50 years old, about 2%; and at 70 years old, about 7%. For a woman who does carry a hereditary risk, the likelihood that they will develop breast cancer by age 40 increases to 10 to 20%, depending on which BRCA gene the defect is in; by age 50, the risk is 33 to 50%, and by 70 the risk is 58-87%, McKamie said. For men, the risk of breast cancer increases from 1% for the general population to 7% for those with a genetic defect.

People take it for granted that everythings working but if you knew that one of these was defective and you were at a higher risk for cancer, you might be more healthy, more conscious, McKamie said.

At Christus St. Michael, McKamie offers consultations for those who would like to undergo genetic testing to determine whether they might be at a heightened risk for developing cancer. First, she will take a detailed family medical history and explain to her patient how ones genes might increase their risk for cancer. Following that, she will draw one tube of blood from the patient and send it to a laboratory, with a typical turnaround time of two to three weeks, she said.

This testing is now even evolved to the point to where if you have cancer, the physicians will use it to determine the best type of drug to use to treat you, McKamie said. I get a lot of consults from our cancer physicians and oncologists because they need to know what type of drug to use to treat this person.

McKamie noted that Medicare pays 100% for this sort of genetic testing, and most other medical insurance companies follow their lead; additionally, should any out-of-pocket costs emerge once a patients sample reaches the testing lab, a representative from the lab will call the patient to ensure they still want the testing done.

Before a patient comes to Texarkana for a screening, McKamie will screen them over the phone to ensure they will qualify for coverage for the genetic testing, she said. Those who are interested in a consult can contact her at 903-614-2654 or [emailprotected]

[Cancer diagnostics and treatment] just really evolved, and it continues to evolve, McKamie said. This is the way of the future now.

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Nurse advises Rotary of the benefits of genetic testing - El Dorado News-Times

Genetics

Genetic link between cattle and water buffalo could hold the key to more sustainable, healthy and productive livestock – FoodNavigator.com

Scientists from the Roslin Institute and the Centre for Tropical Livestock Genetics and Health (CTLGH) discovered that domestication has had comparable effects on regions of the genetic makeup of cattle and water buffalo, associated with production traits such as milk yield, disease resistance and birth weight.

This is important because, if genetic sequences linked to beneficial traits can be found in different species, gene-editing techniques may help improve the productivity and health of agricultural animals.

Cattle and water buffalo have been selectively bred for similar traits. For example, body size and milk production. Such traits will most likely be the easiest to compare and therefore benefit from these kinds of comparisons across species, Dr James Prendergast, Senior Research Fellow at the Roslin Institute, told FoodNavigator.

By better understanding the genetics of domestication across cattle and water buffalo we can use the knowledge we have gained about one species and apply it to another, to further improve animal health and productivity.

Moreover, this new understanding of the genetic crossover between water buffalo and cattle unlocks the door to breading healthier livestock, the scientist continued.

Cattle and water buffalo are susceptible to many of the same diseases, for example tropical theileriosis which productive European cattle are particularly susceptible to, reducing their use in endemic areas. These diseases can therefore be a major barrier to increasing livestock production. By understanding the genetics of tolerance to diseases in one species will potentially allow us to improve the tolerance of the other.

Dr Prasun Dutta, research associate with the Roslin Institute, added that if livestock is more productive it could potentially help improve the sustainability of the livestock industry.

If animals are more efficient at converting feed into milk then this would be a benefit. More generally there is little doubt that genetic sequencing and gene editing has the potential to make livestock production more sustainable, more quickly, Dr Dutta told FoodNavigator.

Leveraging the studys findings are not reliant on gene editing technologies, which are heavily regulated in Europe, Dr Prendergast stressed. Findings from this kind of study can still be exploited without the need for editing, for example by targeting loci for marker-assisted selection, he noted.

The study - published in Nature Communications and funded by CTLGH, the Government of India and the UK Research and Innovations Biotechnology and Biological Sciences Research Council - compared the genomes of 79 water buffalo to those of 294 cattle from around the world, as well as other domesticated species.

Shared impacts of domestication likely extend to other species, the study noted. For example, the DNA change that causes a black coat colour in German Shepherd dogs was also found in some water buffalo, which have been selected for coat colour.

The research also found that regions of the cattle and water buffalo genomes linked to domestication overlap those associated with stature in the human genome, likely resulting from human pressures to increase animal size.

Source 'Whole genome analysis of water buffalo and global cattle breeds highlights convergent signatures of domestication' Nature CommunicationsDOI: https://doi.org/10.1038/s41467-020-18550-1Authors: Dutta, P., Talenti, A., Young, R. et al

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Genetic link between cattle and water buffalo could hold the key to more sustainable, healthy and productive livestock - FoodNavigator.com

Genetics

Evolutionary Origin of Skin Colors Revealed by Genetic Mutation in Snakes – SciTechDaily

A mutation of the lavender variant of corn snake allows a UNIGE team to understand the mechanisms responsible for the extraordinary variety of skin colors in vertebrates.

The skin color of vertebrates depends on chromatophores cells found in the deep layers of the skin. A team of specialists in genetic determinism and color evolution in reptiles from the University of Geneva (UNIGE) is studying the wide variety of colors sported by different individuals within the corn snake species.

The research, published in the journal PNAS, demonstrates that the dull color of the lavender variant of corn snake is caused by the mutation of a gene involved in forming lysosomes, the garbage disposal vesicles of cells. This single mutation is enough to affect every skin color, demonstrating that both the reflective crystals and pigments are stored in lysosome-related vesicles. The UNIGE study marks a significant step forward in our understanding of the origin of colors and patterns in the skin of vertebrates.

The chromatophores are the cells that determine skin color, thanks to the presence of pigments or crystals that reflect light. There are three types of chromatophores: melanophores, which are responsible for the black or brown color; xanthophores, for red and yellow; and iridophores, with crystals that reflect multiple colors. Mammals only have melanophores, while reptiles and fish carry all three types of chromatophore, meaning they can display a very wide variety of colors and color patterns. The pigments of melanophores are known to be stored in organelles known as LROs or lysosome-related organelles. These are small intracellular vesicles that have the same origin as lysosomes, the garbage disposals that digest the non-functional molecules in cells. On the other hand, the storage location of the red and yellow pigments and crystals in the other types of chromatophore is unknown.

The skin of corn snakes (Pantherophis guttatus) has an orange base, decorated with red dorsal and lateral spots circled in black. The species can undergo mutations that lead to variations in skin color, with the lavender corn snake being pink with grey spots. The experiments carried out by Athanasia Tzika, a researcher in the Department of Genetics and Evolution in UNIGEs Faculty of Sciences and her doctoral student Asier Ullate-Agote have identified that these altered colors are due to a single mutation pinpointed in the LYST gene, a gene that regulates lysosome trafficking. Its very long-term work, begins Tzika, since snakes only have one litter a year. Also, we had to sequence the entire genome of the corn snake and identify all the genes within.

Mutations in the LYST gene in humans cause the Chediak-Higashi syndrome, which is characterized by albinism, an impaired immune system and an accumulation of enlarged lysosomes. The Geneva team continued its study into corn snakes by analyzing their hepatocytes, the main liver cells in vertebrates, which contain numerous lysosomes. The scientists found that the hepatocytes of lavender corn snakes contain much larger and more aggregated lysosomes. Using electron microscopy, the authors observed that the morphology and arrangement of colored vesicles in all the chromatophores were altered.

Michel Milinkovitch, a professor in UNIGEs Department of Genetics and Evolution, explains further: By characterizing the mutant gene, the study has shown for the first time that the different chromatophores were not created from scratch during evolution but that they all entail a basic mechanism involving LROs. Further studies will provide a better understanding of the mechanisms responsible for the extraordinary variety of skin colors and color patterns in vertebrates, features that play a part in functions as diverse and essential as camouflage, intraspecific communication, and protection against the harmful effects of solar radiation.

Reference: Genome mapping of a LYST mutation in corn snakes indicates that vertebrate chromatophore vesicles are lysosome-related organelles by Asier Ullate-Agote, Ingrid Burgelin, Adrien Debry, Carine Langrez, Florent Montange, Rodrigue Peraldi, Jean Daraspe, Henrik Kaessmann, Michel C. Milinkovitch and Athanasia C. Tzika, 5 October 2020, Proceedings of the National Academy of Sciences.DOI: 10.1073/pnas.2003724117

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Evolutionary Origin of Skin Colors Revealed by Genetic Mutation in Snakes - SciTechDaily

Genetics

Study will investigate the genetic impact of escaped farmed salmon – The Fish Site

The study has been launched in response to a recent escape of farm-raised salmon and will be managed by the wild-fish conservation body Fisheries Management Scotland, supported by scientists from Marine Scotland Science, and funded by Mowi Scotland.

The multi-year study of 115 sites aims to confirm wild salmons current genetic profile and to track for the potential of genetic changes should interbreeding of farmed and wild salmon occur.

In late August, Mowi Scotland confirmed that 48,834 farm-raised salmon escaped from its Carradale farm in the Firth of Clyde after it became detached from its seabed anchors during a combination of strong weather events.

Since the escape, Fisheries Management Scotland has been working with member District Salmon Fishery Boards and Fisheries Trusts, as well as angling associations, to monitor the situation and mitigate where possible. Escaped farmed salmon have been caught by anglers in multiple rivers across Loch Lomond, Ayrshire, Clyde, Argyll and in rivers in north-west England.

The priority for Fisheries Management Scotland and their members has been to ensure that any farmed fish are removed from the rivers, humanely dispatched, and scale samples submitted to enable accurate identification, and Mowi has committed to support these actions.

Dr Alan Wells, chief executive of Fisheries Management Scotland, said: We are very disappointed that this escape has occurred. The Carradale North farm is a new development, and we are all agreed it is not acceptable for such escapes to occur. It is crucial that lessons are learned, and that appropriate steps are taken to avoid such escapes happening in future.

We have welcomed Mowis commitment to work with us and to fund a comprehensive genetics study that will help us better understand the potential impacts. We will continue to engage with the industry and regulators, with a view to improving the situation for wild salmon and sea trout.

Ben Hadfield, COO of Mowi Scotland, said: I would like to thank Fisheries Management Scotland and their member District Salmon Fishery Boards and Fisheries Trusts for their efforts to remove these fish from rivers across the Firth of Clyde, and apologise for any disruption and concern this escape has caused all those with an interest in wild salmon. We have learned the root cause of the escape system anchor lines crossing and resulting in friction failure and acknowledge our responsibility to quickly learn from this event to prevent it from occurring again.

Polly Burns, aquaculture interactions manager at Fisheries Management Scotland, added: We would like to thank anglers for their continuing efforts to capture and report farmed fish entering our rivers. We have received about 150 reports of farmed fish captures from a range of rivers both within and out with the Firth of Clyde and we continue to urge anglers to report catches of farmed fish, using the reporting system on our website.

The Health and Welfare of Atlantic Salmon course

It is vital that fish farm operatives who are responsible for farmed fish are trained in their health andwelfare. This will help to ensure that fish are free from disease and suffering whilst at the same timepromote good productivity and comply with legislation.

This new and comprehensive study of genetic introgression aims to add to the understanding of one of the potential pressures on Scotlands wild salmon, which are approaching crisis-point. The Scottish Government has identified a range of high-level pressures on wild salmon to also include: over-exploitation, predation, invasive species, habitat loss and inshore commercial fisheries.

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Study will investigate the genetic impact of escaped farmed salmon - The Fish Site

Genetics

The Interplay Between Host Genetics and the Gut Microbiome Reveals Common and Distinct Microbiome Features for Complex Human Diseases – DocWire News

Background

Interest in the interplay between host genetics and the gut microbiome in complex human diseases is increasing, with prior evidence mainly being derived from animal models. In addition, the shared and distinct microbiome features among complex human diseases remain largely unclear.

This analysis was based on a Chinese population with 1475 participants. We estimated the SNP-based heritability, which suggested that Desulfovibrionaceae and Odoribacter had significant heritability estimates (0.456 and 0.476, respectively). We performed a microbiome genome-wide association study to identify host genetic variants associated with the gut microbiome. We then conducted bidirectional Mendelian randomization analyses to examine the potential causal associations between the gut microbiome and complex human diseases. We found that Saccharibacteria could potentially decrease the concentration of serum creatinine and increase the estimated glomerular filtration rate. On the other hand, atrial fibrillation, chronic kidney disease and prostate cancer, as predicted by host genetics, had potential causal effects on the abundance of some specific gut microbiota. For example, atrial fibrillation increased the abundance of Burkholderiales and Alcaligenaceae and decreased the abundance of Lachnobacterium, Bacteroides coprophilus, Barnesiellaceae, an undefined genus in the family Veillonellaceae and Mitsuokella. Further disease-microbiome feature analysis suggested that systemic lupus erythematosus and chronic myeloid leukaemia shared common gut microbiome features.

These results suggest that different complex human diseases share common and distinct gut microbiome features, which may help reshape our understanding of disease aetiology in humans.

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The Interplay Between Host Genetics and the Gut Microbiome Reveals Common and Distinct Microbiome Features for Complex Human Diseases - DocWire News

Genetics

Focusing on the Future of Genetic Testing in Oncology – OncLive

Germline genetic testing is essential in order to identify optimal treatments for patients with cancer, as well as detecting inherited mutations via cascade testing that could affect family members, according to John M.Carethers, MD, MACP, who emphasized that improvements to genetic testing technology and testing costs has increased not only the accuracy of, but access to these assays.

The technology in sequencing has moved from the old gels to capillary to ChIP [chromatin immunoprecipitation]-based, and has revolutionized the way we approached it. The depth of [genetic testing] coverage [has evolved], said Carethers. Sequencing technologies totally revolutionized this [process].

He added, There are some unusual situations in which additional technologies have to be used to figure out some of the ones that typical ChIP technologies don't fully explain. That has markedly changed the way we approach [testing] these days.

In an interview withOncLiveduring the 2020 Institutional Perspectives in Cancer (IPC) webinar on Precision Medicine, Carethers, a professor of Internal Medicine and Human Genetics at the University of Michigan, discussed recent developments in multi-gene panel testing.

OncLive: How are predictive and somatic genetic tests being utilized in clinical practice?

Carethers: In terms of germline testing, the benefit is knowing which disease you carry, and that information can also spread to other family members to understand whether they [are at an increased risk of getting a cancer diagnosis]. Sometimes, at least in my experience, [germline testing] does alleviate some anxiety. Some people get more anxious once they know they have a germline mutation, but in general, it does at least explain the reason why they're seeing certain diseases in the family. Thats the general benefit for germline testing.

The benefit of somatic testing is knowing the type of mutations that occur in the tumor; there may be a therapeutic drug or compound that is in current use that could benefit the patient. For instance, I had a patient with unresectable esophageal cancer. She was dying and her esophagus was almost completely obstructed with the tumor. She had a feeding tube put into her stomach and lost a lot of weight; she was literally counting out the days until she died. With some thought, we decided to take a sample of the tumor and do somatic testing.

She had some mutations that werent typically found in esophageal cancer, and we did have drugs [to treat her]. She was actually put on those drugs and the tumor shrunk dramatically to the point that she could eat again, she gained weight, and she lived another 5 years. Normally, she wouldn't have lasted more than a few months. The benefits of somatic testing is understanding the genetic makeup of the tumor in which you might be able to use some compounds that exist to benefit the patient. Thats the real goal of somatic testing.

There is an unusual situation for somatic testing, as well. For instance, in colon cancer, we know about Lynch syndrome, but there is also a Lynch-like syndrome. In Lynch-like syndrome, there is no germline [mutation], but the tumor has 2 somatic mutations of a mismatch repair deficient tumor. They can look like a Lynch syndrome tumor, and maybe even behave a little bit like a Lynch syndrome tumor, but they're really not caused by a germline mutation. Sometimes, somatic genetics can help us understand tumor genesis as well as ways to treat the tumor.

What changes have we seen recently in multigene panel testing? How are test results interpreted and how do they help guide treatment strategies?

There are patients who will walk in with the classic phenotype and then there are patients walking in who don't have the classic phenotype, yet they carry that mutation in the same gene. Multigene testing allows us to account for phenotypic variation.

Someone may walk in with colon cancer, the next person in the family might walk in with endometrial cancer, and the next person in the family may walk in with a skin tumor, but they all line up with the same mutation in Lynch syndrome. However, if you saw the skin tumor first, would you have thought of Lynch [syndrome]? [What about] if you saw the endometrium or the colon cancer? It depends on the specialty and the type of disease presentation they show up with. In many cases, though, the disease could be subtle.

For instance, there was a family I followed, which comprised the grandmother, mother, and daughter. The grandmother, who was well into her late 60s, had a Lynch syndrome mutation and got her colon removed appropriately. The mother was in her 40s with no cancers, but the daughter who was 21, developed colon cancer. It looked like it skipped a generation, yet, they all carry the same mutation. There's phenotypic variation, even with this exact same mutation in the family, because we're all genetically different to some, so there's probably modifiers and other things going on. However, if I can see that in this one family who I know [harbor that specific] mutation [then I know that] if multiple people walk into the clinic and have variations in their family histories and in their personal history of cancer, that we are seeing a wide phenotypic variation.

Now, instead of testing 1 gene at a time, we will test 30 or 50 genes at a time, and you can pick up some of these less penetrant genes that are causing the phenotypic variation. Sometimes there are major penetrant genes in these families.

What other barriers to germline testing need to be addressed?

We're always learning. Every year or so we add a few more genes to our repertoire and then, maybe they get on some of these panels. E3 ubiquitin ligase WWP1 is associated with PTEN hamartomatumorsyndrome, which is not on any panels, but the paper was published in the New England Journal of Medicine. We keep learning as we discover more and more of these genes. The more genes that we find tend to occur in less and less people, based on our current knowledge, but some of these patients present with these rare phenomena.

We're also finding out that some of these mutations arent specifically a change in the DNA sequencethere are methylation, or rearrangement, or even a deletion. You have to use other techniques in addition to sequencing to figure those families out or those families will be left in the lurch.

The downside of doing multigene panel testing is that now, if you push for more whole-exome and whole-genome sequencing, we have a lot more variants. One commercial lab got [results] back to me 2 months ago from a patient we had tested 4 years ago. They said, We finally have enough people [where we could determine that] his variant is not significant. It was good news. We are now more sure of variants because they now have more families in their database at the commercial lab. Sometimes it takes years to figure it out, unless we have functional analysis for all variants. Thats a big challenge right now.

Where do you hope to see the future of genetic testing head?

In a good way, genetic testing will probably [have a lower] cost and there [will be an] ease of doing it [with] whole-exome and whole-genome sequencing. It will even overtake panel testing over time because the machines are better and faster. The key, though, is having a database that you can go back and forth and analyze. Youre going to need the analytics and tools. What happens with the patient? Do I carry this [information] on a flash drive? Is it in a database I have to have access to?

It's not an easy answer and I'm not sure if the health system that a particular patient goes to is going to store all this information3 billion base pairs of informationand go back to it each time. Each place is going to have to have the right analytic tools to go back and [retrieve that information]. There are going to be some challenges with that, even though that's the way the technology is going.

The more challenging pieces [are related to] direct-to-consumer (DTC) testing. You don't always know what you're getting on those tests. We can test you for common diseases, such as diabetes and hypertension, but we also test you for BRCA1/2. In reality, very few of the DTC [tests] are doing sequencing or panel testing like we do clinically. Many of them are using single nucleotide polymorphisms (SNPs) that give you a suggestion. Many of these start from ancestry companies,and they recently moved into [testing for] these diseases because people are interested. I don't blame them for doing this, but the information they give might only [include] a fraction of the actual disease variants. If someone finds an SNP in BRCA1/2 or Lynch syndrome, you might need to see a doctor. [Based on your family history or phenotype,] we may have to send a ChIP test to verify [the results].

In some cases, people will test just to be curious, and they think they're going to have something, but there is zero evidenceno personal history and no family history. There are going to be some challenges with the DTC [testing] because we don't always know the type of test theyre getting and the information is not going to be as precise and could present challenges in the clinics. Some people are going to get upset because we're going to say, No, you don't need testing, or [patients will ask], Why does this test say I might have it but your test says I don't? We have to explain all this and those are going to be challenges.

What else would you like to add regarding the evolution of genetic testing?

There is phenotypic variability in the presentation of many of these syndromes. The standard now is multigenetic panel testing to try to assuage the phenotypic variation; we do pick up [genes in] people who we didn't necessarily think had that disease. I've been surprised too many times, so I'm not surprised anymore. A lot of these inherited conditions have phenotypic variability. If you have any suspicion or your primary care physician has any suspicion, feel free to send [a test] to our clinic because we can investigate that and do testing that's relatively cheap if there's a good cause to investigate that. It may save their life and the lives of their loved ones.

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Focusing on the Future of Genetic Testing in Oncology - OncLive

Genetics

If rotten fish smells like roses to you, you have a genetic mutation to blame – Times Now

If rotten fish smells like roses to you, you have a genetic mutation to blame  |  Photo Credit: iStock Images

New Delhi: Whenever we are around a dumpster or somehwere we know it smells awful, we wish we were lucky to be able to switch off our noses, and not smell the awful smell. For some people, it seems, genes have ensured to make it possible.

According to a new study published in Current Biology, it was found that a rare genetic mutation can make some people immune to the nauseating aroma of rotten fish, as reported by the Nature News.

11,000 people participated in the study. They provided DNA samples, and put their noses to test. When presented with a box of six odours, the participants each took a whiff and tried to identify it. For some people, the rotten fish smell was unpleasant and easy to identify, while a small group of people labelled it as neutral.

Researchers further looked into their DNA and found that the small group of people shared a genetic mutation in common. They reportedly had at least one broken version of a gene called the TAAR5.

I can assure you I do not have this mutation, neurologist and co-author of the study Kri Stefnsson, of deCODE Genetics in Reykjavik, tells the New York Times Katherine Wu. I tend to get nauseated when I get close to fish that is not completely fresh.

According to researchers, the gene makes the tools in your cells, that the nose uses to identify a rank chemical called trimethylamine, or TMA, which is also found in faeces, blood and bad breath. TMA is a red flag for iffy food, and peoples disgusted reaction to its sickening smell helps them avoid danger.

TAAR5 is a very conserved gene, so its very similar across species, probably because it has been important to protect us against harmful microorganisms, says deCODE neuroscientist Rosa Gisladottir to New Scientist.

The researchers further asked the participants to smell samples with synthetic odours. These consisted of cinnamon, peppermint, banana, liquorice, lemon, and rotten fish. They found that the success of identifying these smells reduced with age, but even young people could confuse between certain smells. They were also asked to rate how unpleasant the smell was, and rotten fish won, hands down.

However, for people with the broken TAAR5 genes, the rotten fish smelled neutral. While some could not smell it at all, some identified it as potato, caramel, ketchup, or even roses.

This study was conducted in Ireland, where a large number of people have the genetic mutation, as compared to other places in the world.

If they hadnt looked at this population, they might not have found the variant, says Bettina Malnic, who studies olfaction at the University of So Paulo, to theNew York Times. Another sensory science researcher, Paule Joseph, tells theTimesthat a future study with a more diverse study population could show whether different diets affect the prevalence of the mutation.

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If rotten fish smells like roses to you, you have a genetic mutation to blame - Times Now

Genetics

Science Paper Examines Genetics of Adaptive Intersexuality in Moles – GenomeWeb

An analysis of the mole genome that reveals the genetic underpinnings of adaptive intersexuality in the animal is published in Science this week. While sex in mammals is determined by genetic elements that direct the differentiation of the bipotential gonad into either testicular or ovarian tissue, in the Iberian mole (Talpa occidentalis) genotypic females develop ovotestes instead of ovaries.

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Science Paper Examines Genetics of Adaptive Intersexuality in Moles - GenomeWeb

Genetics

University of Utah researcher among 21 awarded genius grant – Deseret News

SALT LAKE CITY A University of Utah researcher recently received one of the nations most prestigious fellowships.

Nels Elde, an associate professor of human genetics at the University of Utah, studies evolutionary cell biology.

Now he can also be considered an honorary genius, though hes not anxious to add that title.

I mean the word genius is a little ambitious here, at least in my case, Elde said. A lot of scientists kind of shy away from the limelight I think myself included. So putting myself in the category of genius seems a little out there.

Among grants that scientific researchers are eligible to receive, the MacArthur Fellowship, colloquially known as the genius grant, is unique for several reasons.

First, the money comes with no strings attached. Rather than financial backing for a project or an idea, the grant is an investment in a person a creator. As such, the fellows arent just scientists, they hail from every field of human endeavor.

This years winners include a playwright, two fiction writers, a poet and a historian.

The foundation trusts that recipients will do their best work if theyre not confined by pre-set boundaries or limitations. And they attest to that belief with money a lot of money. Thats the second aspect of the fellowship that makes it special: its size.

The stipend is $625,000.

Thats how much Elde and 20 others will each receive in payments over five years now that theyve been named 2020 fellows.

Dr. Elde has achieved a hallmark in the scientific community, Dr. Michael L. Good, senior vice president for Health Sciences and CEO of University of UTah Health, said in a news release. His innate ability to think creatively about unsolved problems inspires all of us to do the same in our quests to advance knowledge. University of Utah Health is extremely proud of him and his accomplishment, which is representative of our facultys desire to improve the world.

The third unique aspect of MacArthur grants is that theyre based on recommendations, not applications, which also shows how highly Eldes colleagues think of him.

An entire roomful of people will be listening to the same scientific talk and he has the insight to ask the one question that no one else is asking but that everyone should be asking, Harmit Malik, a professor at the Fred Hutchinson Cancer Research Center and Eldes postdoctoral mentor, said in the release. Its not fair to call him outside the box because he is so far beyond that.

Elde credits his upbringing and family for his interest in science as well as his creativity.

He grew up in Minnesota and is from a family of artists, scientists and ministers. He remembers being curious about nature from a young age. And not just animals and plants, but microorganisms as well.

Dip into a mud puddle and look under a microscope, he said. There is all this interesting energy, complexity. Theres lifeforms.

This fascination led him to pursue a doctoral degree at the University of Chicago, where he sought to answer questions about how cells work about their biology.

I think those sort of forces somehow came together to just put me on a path to continue thinking about science, thinking about nature, thinking about ideas more philosophical ideas. Where are we from? What explains all of the diversity of life around us? he said.

Like many scientists, he seems to love talking about his research. In fact, in his interview with the Deseret News, he talked more about his work than the $625,000 he was just awarded.

He discussed his graduate training in Chicago and his current research at the University of Utah.

He talked about how interactions between infectious microbes and other living species have shaped evolutionary biology.

These infections, these collisions or actions between infectious microbes and hosts have really big outcomes, as I think we are all ... grappling with (in) this current pandemic, he said. If we kind of step back and put that in a bigger perspective, then what I think you begin to see is how, depending on how an infection unfolds ... that might influence whether that population lives or has kids.

At the end, he admitted while laughing, thats sort of a long answer.

He explained that what he loves most about science is the creative aspect of it, the exploration and discovery of new things sometimes without even meaning to. In some ways, he is still the kid who simply loves nature and wonders why it is the way it is.

And thats exactly what the fellowship is designed to encourage.

I think it is fun to sidestep, and this is what the MacArthur Foundation does as well. So they consider it an award for creativity. And so I am much more comfortable with that framing of it. In fact, in some ways, I think thats for me what makes it such an incredible and a fun honor is to put the creativity forward. Because thats really what kind of keeps me in this job, or why I got into this job.

Its just such a fun kind of playground to exercise creativity. Science, sometimes, we think about it as dried out, textbook kind of stuff. But I think the kind of research we do, discovery research, it really depends on being kind of creative and curious.

He said the phone call telling him he had been selected was a totally surprising and overwhelming moment to let that sink in. And it is just really a spectacular honor.

He also called it mysterious and said he was originally sent an email by the foundation that told him the calls purpose was so he could weigh in on other candidates.

I was kind of having fun thinking about all of my science mentors and science heroes, people who deserve to get this prize, he said. So I was thinking about how I would describe their work or try to really support their case.

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University of Utah researcher among 21 awarded genius grant - Deseret News