header logo image


Page 13«..10..12131415..2030..»

Archive for the ‘Genetics’ Category

An evolutionary jolt helped cattle to spread across Africa. Now genetics must make them more productive – The Conversation Africa

Thursday, October 15th, 2020

African cattle breeds are astonishingly diverse, and often quite beautiful. They range from the dark-red Ankole of southern Uganda, with their massive heat-dissipating horns, to the Boran which thrive in the dusty plains of northern Kenya, to Ethiopias sturdy Mursi cattle, with their prominent shoulder humps and hanging dewlaps. The Kuri that graze on the grasses of Lake Chad are adept swimmers; the Red Fulani can trudge vast distances along the margins of the Sahara; and the famously disease-resistant Sheko inhabit tsetse fly-infested forests of southwest Ethiopia.

All billion or so cattle today descend from ancient aurochs, an extinct species of wild cattle that once inhabited large swaths of Eurasia. These cattle were domesticated on at least two distinct occasions approximately 10,000 years ago during the Neolithic era: once in south Asia leading to the zebu or humped cattle and the other in the Middle East leading to the taurine or humpless cattle.

In Africa, the oldest archaeological evidence of domestic cattle dates back to between 6000 and 5000 BC in western Egypt. These taurine cattle, initially confined to the Saharan-Sahelian belt, eventually reached isolated pockets of land in West and East Africa.

Africas cattle today have adapted to the climate, forage conditions, diseases and pests prevalent in their habitat. The individuals best adapted to their environments were more likely to survive and reproduce. They were also more favoured by people. Over time this led to different breeds and species.

Today there are an estimated 800 million livestock keepers across the continent. Cattle provide nutritious, calorie-dense food, much-needed income, and nitrogen-rich manure for replenishing soils. There are few regions of Africa where cattle do not play a central role, both economically and culturally.

But it was not always this way. My colleagues and I from the International Livestock Research Institute (ILRI) recently published a paper detailing how African cattle acquired their adaptive capacities.

Sifting through the DNA of 16 indigenous African breeds, we discovered a thousand-year-old event in which the worlds two main subspecies of cattle namely taurine and zebus mixed. This allowed African cattle after spending thousands of years confined to certain regions in Africa to diversify and spread across the continent.

Our findings help to explain how African cattle spread throughout the continent. But since they were selected and bred for resilience, African cattle never became as productive, in terms of meat or milk, as breeds in more temperate climates. Our hope is that, by studying the history hidden in indigenous cattle genomes, we can help guide efforts to breed for productivity without losing the breeds native resilience and sustainability.

Our new genome sequencing work revealed that, about a thousand years ago, pastoralist herders in the Horn of Africa began breeding the Asian zebu cattle with local taurine breeds.

The zebu offered traits that allowed cattle to survive in hot, dry climates. The taurine traits provided cattle with the ability to endure humid climates, where vector-borne diseases that affect cattle, like trypanosomiasis (or sleeping sickness) are common.

This event, which we dubbed an evolutionary jolt, allowed African cattle after spending thousands of years confined to a shifting patchwork of sub-regions in Africa to spread across the continent and flourish into the breeds we see today.

But this resilience came at a cost. African cattle are often not as productive in terms of growth rates, meat or milk as their European and American cousins. Canadian Holsteins, for example, can deliver 30 litres of milk per day, several times what most African breeds are capable of. Traditional Ethiopian Boran, for example, produced only four to six litres of milk per day.

Today scientists at ILRI, in partnership with governmental institutions in Tanzania and Ethiopia, are again trying to deliver an evolutionary jolt to Africas cattle. This time, however, they want to speed up the evolutionary clock by identifying genetic markers that signal both adaptability and productivity. Screening embryos for these markers could help scientists replicate in the lab the slow work of evolution by favouring the traits that most benefit farmers.

Earlier efforts to improve cattle productivity on the continent focused on importing cattle breeds from elsewhere, without adequately recognising African breeds unique resilience. Nearly, all these attempts have failed or resulted in crossbreeds with both adaptability and productivity diluted.

This time, we are focusing on sustainable productivityproductivity that builds on rather than disregards the resilience of indigenous African breeds.

But while we have new tools and shortcuts which enables scientists to analyse vast swaths of genetic data and decide which breeds could work well together, there are some lessons we should still draw from the first evolutionary jolt.

The first is that we shouldnt be overly concerned about crossbreeding. Because of a sense of national pride and wanting to conserve indigenous African cattle breeds, there is at times a tendency on the part of some to treat them as iconic, untouchable manuscripts.

This ignores the long tradition of crossbreeding practised by African livestock farmers and pastoralists they were (and still are) constantly mixing and matching breeds to select the animals best suited to their needs.

Another lesson is that, as scientists experiment and cross-breed, it is vitally important to remember that the local breeds have adaptations not all of them immediately obvious (a tolerance for episodic drought, for example) that have enabled their success. It is important that we do not lose those adaptive traits in the randomness of crossbreeding.

This will take innovative crossbreeding programs that incorporate scientists, government ministries, private partners and farmers to ensure the conservation of genetic information across the long life cycle of cattle generations.

And finally, its essential to include the practical, accumulated experience of pastoralists in these processes.

David Aronson, Senior Communications Advisor with ILRI, contributed to the writing of this article

See the original post here:
An evolutionary jolt helped cattle to spread across Africa. Now genetics must make them more productive - The Conversation Africa

Read More...

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

Thursday, October 15th, 2020

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.

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

Read More...

The 23andMe Genetic Kit Is an Insanely Cool Gift You May Just Want to Give Yourself – It’s on Sale For Prime Day! – Yahoo News

Thursday, October 15th, 2020

Amazon Prime Day is here, and have you seen these deals? They're bigger and better than ever, and we can't say we mind all that much. For two days only, you can score everything from fitness deals to beauty buys and kitchen gadgets. But, we'd be remiss if we didn't talk about the fact that it's October (seriously, how?) and gift-giving season is almost here. If you've got someone in your life who could use a cool present, consider this 23andMe Health + Ancestry Service ($99, originally $199).

This genetic-testing kit is beloved by millions, and will give you a unique and in depth look into your genetics. You can save $100 if you buy it today, which is major. Whether you want to check some people off your gifting list or are curious for yourself, now's the time to buy this insanely cool kit.

Read more:
The 23andMe Genetic Kit Is an Insanely Cool Gift You May Just Want to Give Yourself - It's on Sale For Prime Day! - Yahoo News

Read More...

Focusing on the Future of Genetic Testing in Oncology – OncLive

Thursday, October 15th, 2020

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.

Read the original:
Focusing on the Future of Genetic Testing in Oncology - OncLive

Read More...

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

Thursday, October 15th, 2020

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.

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

Read More...

Unraveling the Impact of Lifestyle, Genetics on MS – AJMC.com Managed Markets Network

Tuesday, September 15th, 2020

Obesity and metabolic syndrome

Adiposity obesity, particularly when it begins in childhood and late adolescence, was identified as leading to a 2-fold risk of developing MS in one study, according to Ruth Ann Marrie, MD, PhD, FRCPC, director of the Multiple Sclerosis Clinic at the University of Manitoba. Central obesity, or visceral adipose fatty deposits in the abdominal area, is a key component of metabolic syndrome, a cluster of abnormalities that includes hypertension, dyslipidemia, and insulin resistance and is linked to a higher risk of cardiac disease and diabetes.

In the Nurses Health Study, which examined risk factors for chronic disease, women with a body mass index (BMI) of 30 or more had a 2-fold increased risk of subsequently developing MS. And a study using data from the Copenhagen School Health Records Register found that children aged 7 to 13 years with a BMI equivalent to 30 in adults had an increased risk of developing MS later in life.

Obesity is more common even before MS diagnosis, Marrie said. In an effort to look at other aspects of metabolic syndrome, researchers used Canadian claims data of about 20,000 individuals with newly diagnosed MS and found that by the time of diagnosis, more than 15% had hypertension and nearly 10% had dyslipidemia.

There is also evidence that obesity and components of metabolic syndrome are associated with longer diagnostic delays, greater disability at diagnosis, as well as an increased relapse rate and accelerated disability progression. One key question she said, is whether treating metabolic syndrome might improve MS outcomes and multiple sclerosis.

In one small, nonrandomized cohort study of 50 individuals with MS, obesity, and metabolic syndrome, they were treated either with metformin or pioglitazone, or they declined treatment.

Before treatment, researchers measured the number of newer enlarging T2 lesions in the 24-month period before intervention as well as gadolinium-enhancing lesions; all 3 groups looked similar.

After treatment with either metformin or pioglitazone, the number of newer T2 lesions as well as gadolinium-enhancing lesions dropped over 24 months. Patients who declined treatment did not see a decrease.

I think the growing body of evidence suggests that clinical trials are needed to really test whether treating obesity and metabolic syndrome may improve outcomes in MS and to test whether we need to be using different strategies for managing disease-modifying therapy, including dosing in individuals who are obese or extremely obese with multiple sclerosis, Marrie said.

Smoking and genetics

Another presentation focused on the interactions between modifiable risk factorsnamely smokingand genetics.

People with a genetic susceptibility to the disease may be at a substantially increased risk of developing MS if youre exposed to certain environmental factors, said Anna Hedstrm, MD, PhD, from the Karolinska Institute Stockholm, Sweden in the Department of Clinical Neuroscience.

Smoking and the chemicals from tobacco creates a cascade of problems, including systemic inflammation, local inflammation in the lungs, oxidative stress, damaged neural tissue, and epigenetic changes.

Smoking increases the risk of MS by about 50%, she said, with men more affected than women; in addition, there is also a dose response relationship between the accumulated dose of smoking and the risk of developing the disease.

In 2005, the Karolinska Institute began a study called the Epidemiological Investigation of Multiple Sclerosis, which uses the countrys national MS registry. As an ongoing study, it now includes 9000 cases and 12,000 matched controls.

In 2011, Hedstrm and colleagues published a study that found a significant interaction between 2 genetic risk factors and smoking: HL ADRB1*15, the key genetic risk factor for MS, and HLA A*02, the absence of which carries a reduced risk of MS. The research looked at the interaction of these genes in both smokers and non-smokes.

Smokers with both genes had an odds ratio (OR) of 13.5 (8.1-22.6) for MS, compared with nonsmokers with the same makeup.

Compared with non-smokers with neither of the genetic risk factors, the OR for smokers without genetic risk was 1.4 (0.9-2.1); the OR for non-smokers with both genetic risk factors was 4.9 (3.6-6.6).

Among those with both genetic risk factors, smoking increased the risk by a factor of 2.8 in comparison with a factor of 1.4 among those without the genetic risk factors.

Passive smoking (ie, never smokers exposed to second-hand smoke) also increases MS risk (OR 1.3-1.6) and the risk increases along with the length of exposure, she said.

Similarly, exposure to organic solvents, she said, also raises the rise of MS in people with the same genetic profile.

MS and Epstein-Barr virus (EBV) infection

No virus has been discovered as a cause of MS, but the hypothesis that a virus may be involved in MS has been around for some time, said Kassandra Munger, ScD, of the Department of Nutrition in the Harvard TH Chan School of Public Health. Current knowledge, she said, points to Epstein-Barr.

From environmental risk factor perspective, MS is likely a rare complication of Epstein-Barr virus infection, with risk further modified by inadequate vitamin D levels, being overweight or obese in early life and cigarette smoking, she said.

Early studies attempting to look at the issue through antibody testing could not determine if EBV infection proceeded MS or if it was a complication.

Using blood samples collected by the Department of Defense of US military members, Munger and colleagues found preliminary evidence that EBV infection does happen before MS. They identified 305 MS cases and 610 matched controls. In cases where serum samples were collected before the onset of MS symptoms and measured EBV titers, they found that 38 were EBV negative at the time they went on active duty. During follow up, up until MS onset, 20 of the 38 became EBV positive. Eighteen remained EBV negative and did not develop MS.

This is a preliminary finding that needs to be replicated in a larger study, she said.

References

Hedstrm AK, Sundqvist E,Brnhielm M,et al. Smoking and two human leukocyte antigen genes interact to increase the risk for multiple sclerosis. Brain.2011;134(3):653-64.doi:10.1093/brain/awq371

Excerpt from:
Unraveling the Impact of Lifestyle, Genetics on MS - AJMC.com Managed Markets Network

Read More...

When ‘bones and stones’ are not enough: Genetics fills in the blanks in the story of human evolution – Genetic Literacy Project

Tuesday, September 15th, 2020

In recent years, a field that has traditionally relied on fossil discoveries has acquired helpful new tools: genomics and ancient DNA techniques. Armed with this combination of approaches, researchers have begun to excavate our species early evolution, hinting at a far more complex past than was previously appreciatedone rich in diversity, migration, and possibly even interbreeding with other hominin species in Africa.

To piece together that story, we need information from multiple different fields of study, remarks Eleanor Scerri, an archaeologist at the Max Planck Institute for the Science of Human History in Jena, Germany. No single one is really going to have all the answersnot genetics, not archaeology, not the fossils, because all of these areas have challenges and limitations.

[I]t was the advent of genetic research that showed unequivocally that populations outside of Africa descended from a single population in Africa. But the story had a twist: intwogroundbreakingstudiespublished in 2014, researchers compared ancient DNA extracted from Neanderthal bones and compared it with modern-day people, and found that 2 percent of the average European genome is Neanderthal in origin. Our species originated in Africa, but interbred with hominins outside of it.

These findings, and many since, have highlighted the power of genetics in resolving questions about human ancestry that fossils alone cannot.

Read the original post

Read more here:
When 'bones and stones' are not enough: Genetics fills in the blanks in the story of human evolution - Genetic Literacy Project

Read More...

Minority-owned biotech startup Acclinate Genetics secures investment to expand diversity in clinical trials – GlobeNewswire

Tuesday, September 15th, 2020

Acclinate Genetics Co-Founders Tiffany Jordan-Whitlow and Del Smith

Huntsville, Alabama, Sept. 15, 2020 (GLOBE NEWSWIRE) -- Racial and ethnic minorities make up 40 percent of the U.S. population. But in clinical trials, minorities often account for as little as two percent of participants. As a result, there are many examples of commonly prescribed pharmaceuticals that are less effective or have negative side effects due to a persons race and ethnicity.

This is a problem that needs to be addressed, saysDel Smith, co-founder and Chief Executive Officer of Acclinate Genetics. It only exacerbates the health inequalities were already dealing with in America and around the world. We believe that diversifying genomic research and clinical trials to include more representation and diversity increases knowledge about health issues and makes a difference in personalized healthcare for all.

Smith and co-founder of Acclinate Genetics Tiffany Jordan-Whitlow have both been personally impacted by the lack of minority representation in medicine. Their company helps biopharmaceutical companies and contract research organizations increase minority and ethnic participation in research and trials. With a platform that protects privacy, the company utilizes machine learning and predictive analytics to ensure selection of more diverse participants. Acclinate creates value by decreasing the overall cost of drug development, increasing the speed of drug approval, integrating with virtual clinical trials and contributing to the discovery of new drugs.

Acclinate Genetics recently gained backing from Bronze Valley, a Birmingham-based early stage venture investment platform dedicated to supporting high growth, minority-owned businesses. The partnership makes Acclinate Genetics the first bio company to join Bronze Valleys portfolio.

We are proud to announce our partnership with Bronze Valley, and we are grateful for their support and confidence in Acclinate Genetics position for future growth. says Jordan-Whitlow. With forward momentum, Acclinate remains focused on helping diverse individuals make informed decisions about genomic research, clinical trial participation and their overall health.

Addressing longstanding inequities in research and clinical trials also presents business opportunities. Currently, the clinical trial patient recruitment market is a $3.4 billion business, a figure projected to grow to $5.3 billion by 2030.

Acclinates Smith says that he and Jordan-Whitlow have followed the philosophy of applying sound business principles to making positive social impacts. As Acclinate continues to grow and scale, the company seeks investors and partners, who honor that same philosophy, to come alongside them.

About Acclinate Genetics

Acclinate Genetics is a Huntsville-based startup working to help biopharmaceutical companies and contract research organizations increase the representation and diversity of their genomic research and clinical trials. Founded by Del Smith and Tiffany Jordan-Whitlow, the trusted digital health company has a mission to educate and engage diverse individuals to make informed decisions about their health. For more information about Acclinate Genetics, visit http://www.acclinategenetics.com.

Here is the original post:
Minority-owned biotech startup Acclinate Genetics secures investment to expand diversity in clinical trials - GlobeNewswire

Read More...

Fulgent Genetics to Provide COVID-19 Testing Solutions for the State of Utah – GlobeNewswire

Tuesday, September 15th, 2020

TEMPLE CITY, Calif., Sept. 15, 2020 (GLOBE NEWSWIRE) -- Fulgent Genetics, Inc. (NASDAQ: FLGT) (Fulgent Genetics or the company), a technology company providing comprehensive testing solutions through its scalable technology platform, today announced a new partnership with the State of Utah for COVID-19 testing.

Through a competitive bidding process, the Utah Department of Health selected Fulgent Genetics to utilize the companys FDA EUA-approved RT-PCR test for its Test Utah COVID-19 testing initiative. This initiative was developed to increase availability of COVID-19 testing solutions for residents across the state of Utah to help stem the spread of COVID-19. Fulgents RT-PCR test is being administered at a number of fixed sites and mobile units in select counties across the state, with the potential to expand as the program grows. Samples are collected on-site and processed at Fulgents lab in Temple City, California and results are delivered to patients within an average of 24 hours of sample receipt.

We are pleased to be selected as a partner by the Utah Department of Health for their Test Utah initiative, which is making COVID-19 testing more readily available for residents of Utah, commented Brandon Perthuis, Chief Commercial Officer of Fulgent Genetics. The State of Utah joins the growing list of municipalities, healthcare providers and organizations that have selected Fulgents RT-PCR test for their COVID-19 testing needs. Our rapid turnaround time, reliable testing solutions combined with our user-friendly platforms and applications continue to be reasons why Fulgent is selected as a testing partner in these competitive situations.

As we look to stop the spread of COVID-19 and save lives across the state of Utah, we are pleased to be working with Fulgent Genetics as part of our Test Utah initiative to offer our residents a convenient and reliable testing solution for COVID-19, said Utah Governor Gary Herbert. The goal of our Test Utah initiative is to dramatically increase the rate of COVID-19 testing in the state so residents can have better access to testing and help stem the spread of COVID-19, so we can get back to normal as quickly as possible. We are thankful to have Fulgent as a partner to offer reliable and timely COVID-19 testing solutions.

For more information on the State of Utahs Test Utah program, please visit http://www.testutah.com.

About Fulgent Genetics

Fulgent Genetics proprietary technology platform has created a broad, flexible test menu and the ability to continually expand and improve its proprietary genetic reference library while maintaining accessible pricing, high accuracy and competitive turnaround times. Combining next generation sequencing (NGS) with its technology platform, the company performs full-gene sequencing with deletion/duplication analysis in an array of panels that can be tailored to meet specific customer needs. In 2019, the company launched its first patient-initiated product, Picture Genetics, a new line of at-home screening tests that combines the companys advanced NGS solutions with actionable results and genetic counseling options for individuals. Since March 2020, the company has commercially launched several tests for the detection of SARS-CoV-2, the virus that causes the novel coronavirus (COVID-19), including NGS and reverse transcription polymerase chain reaction (RT-PCR) - based tests. The company has received Emergency Use Authorization (EUA) from the U.S. Food and Drug Administration (FDA) for the RT-PCR-based tests for the detection of SARS-CoV-2 using upper respiratory specimens (nasal, nasopharyngeal, and oropharyngeal swabs) and for the at-home testing service through Picture Genetics. A cornerstone of the companys business is its ability to provide expansive options and flexibility for all clients unique testing needs through a comprehensive technology offering including cloud computing, pipeline services, record management, web portal services, clinical workflow, sequencing as a service and automated lab services.

About Picture Genetics

Through its Picture Genetics platform launched in 2019, Fulgent Genetics offers consumers direct access to its advanced genetic testing and analytics capabilities from the ease and comfort of home, at an affordable price point. The Picture Genetics platform provides a holistic approach to at-home genetic screening by including oversight from independent physicians as well as genetic counseling options to complement Fulgent Genetics comprehensive genetic testing analysis. The Picture Genetics platform currently offers multiple tests, providing medically actionable, clinical-level results with professional medical follow-up in one easy process. Visit http://www.picturegenetics.com for more information.

Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Examples of forward-looking statements in this press release include statements about, among other things: managements beliefs, judgments and estimates regarding Fulgents testing solutions, including its technology platforms and RT-PCR testing solution; the companys identification and evaluation of opportunities and its ability to capitalize on opportunities to grow its business; and its expected lab capacity and results turnaround times.

Forward-looking statements are statements other than historical facts and relate to future events or circumstances or the companys future performance, and they are based on managements current assumptions, expectations and beliefs concerning future developments and their potential effect on the companys business. These forward-looking statements are subject to a number of risks and uncertainties, which may cause the forward-looking events and circumstances described in this press release to not occur, and actual results to differ materially and adversely from those described in or implied by the forward-looking statements. These risks and uncertainties include, among others: the ongoing impacts of the COVID-19 pandemic, including the preventive public health measures that may continue to impact demand for its tests and the pandemics effects on the global supply chain; the market potential for, and the rate and degree of market adoption of, the companys tests, including its newly-developed tests for COVID-19 and genetic testing generally; the companys ability to capture a sizable share of the developing market for genetic and COVID-19 testing and to compete successfully in these markets, including its ability to continue to develop new tests that are attractive to its various customer markets, its ability to maintain turnaround times and otherwise keep pace with rapidly changing technology; the companys ability to maintain the low internal costs of its business model, particularly as the company makes investments across its business; the companys ability to maintain an acceptable margin on sales of its tests, particularly in light of increasing competitive pressures and other factors that may continue to reduce the companys sale prices for and margins on its tests; risks related to volatility in the companys results, which can fluctuate significantly from period to period; risks associated with the composition of the companys customer base, which can fluctuate from period to period and can be comprised of a small number of customers that account for a significant portion of the companys revenue; the companys ability to grow and diversify its customer base and increase demand from existing and new customers; the companys investments in its infrastructure, including its sales organization and operational capabilities, and the extent to which these investments impact the companys business and performance and enable it to manage any growth it may experience in future periods; the companys level of success in obtaining coverage and adequate reimbursement and collectability levels from third-party payors for its tests; the companys level of success in establishing and obtaining the intended benefits from partnerships, joint ventures or other relationships; the companys compliance with the various evolving and complex laws and regulations applicable to its business and its industry; risks associated with the companys international operations; the companys ability to protect its proprietary technology platform; and general industry, economic, political and market conditions. As a result of these risks and uncertainties, forward-looking statements should not be relied on or viewed as predictions of future events.

The forward-looking statements made in this press release speak only as of the date of this press release, and the company assumes no obligation to update publicly any such forward-looking statements to reflect actual results or to changes in expectations, except as otherwise required by law.

The companys reports filed with the U.S. Securities and Exchange Commission (SEC), including its annual report on Form 10-K for the year ended December 31, 2019 filed with the SEC on March 13, 2020 and the other reports it files from time to time, including subsequently filed quarterly and current reports, are made available on the companys website upon their filing with the SEC. These reports contain more information about the company, its business and the risks affecting its business.

Investor Relations Contact:The Blueshirt GroupNicole Borsje, 415-217-2633; nborsje@blueshirtgroup.com

Media Contact:The Blueshirt GroupJeff Fox, 415-828-8298, jeff@blueshirtgroup.com

Originally posted here:
Fulgent Genetics to Provide COVID-19 Testing Solutions for the State of Utah - GlobeNewswire

Read More...

California Enacts the Genetic Privacy Information Act | Newmeyer Dillion – JD Supra

Tuesday, September 15th, 2020

With the focus of personal privacy increasing, it is unsurprising that additional laws are being proposed to increase privacy rights, including the California Privacy Rights Act initiative on the ballot this upcoming November. More immediately, the California legislature passed, and Governor Newsom signed, the Genetic Information Privacy Act ("GIPA"). GIPA specifically targets biometric information, due to the increase of genetic tracing services, like 23andMe and Ancestry.com. This law pertains to adding more protections to genetic privacy. Many questions arise following the passage of GIPA, such as what businesses are affected? What, if any, penalties or causes of action exist under this new law? How does this law work alongside the CCPA?

WHAT IS IN THE LAW?

The law requires notices and actual, express consent from consumers for direct-to-consumer genetic testing companies, and any other company that collects, uses, maintains, or discloses information collected from biometric samples, or from any other element concerning genetic material (i.e. genes). Regarding the express consent provision in particular, this requires that consent is provided for: (1) the use of data through the genetic testing product being provided, for those specific purposes; (2) the storage of the consumer's biometric sample after testing is complete; (3) each use of the genetic data or sample beyond what was originally intended; (4) each transfer or disclosure to a third party other than service providers, including that third party's name; and (5) any marketing based on the genetic data. In essence, unless a consumer explicitly opts in, these companies cannot store, use, or market based on the genetic information.

WHAT ARE THE PENALTIES?

The penalties for not following GIPA are akin to those for the CCPA, with a $1,000 fine, plus court costs for negligent violations, and $10,000 for willful violations. Furthermore, unlike the CCPA, this law does include a private right of action, as it allows a person who has suffered injury in fact, or has lost money or property, as a result of a violation. In essence, this increases the damages for a company which fails to reasonably secure genetic information from data breaches, though plaintiffs may have difficulty showing that money or property was lost due to the exposure of their genetic information, unlike the CCPA, which implements statutory damages just for the breach occurring.

HOW DOES THIS INTERACT WITH THE CCPA?

Regarding the CCPA, both laws will be in effect, and these companies would be obliged to provide additional notices in addition to those required under the CCPA. Furthermore, they both would protect the same information, as the CCPA does protect biometric data, which would largely overlap with the protections of the genetic information under GIPA. GIPA and the CCPA also both require that reasonable security is utilized to protect the consumer's genetic information. However, GIPA also goes further, in requiring that reasonable security is taken to prevent unauthorized destruction as well. Furthermore, it is noteworthy that GIPA relies on the same "reasonable security" language as the CCPA.

Ultimately, GIPA places stricter requirements on genetic testing companies, such that they will have to be more transparent with consumers, and it may serve as a model for future changes to the CCPA. For instance, GIPA will require more click-wrap agreements and additional changes to items like Terms of Use agreements, to ensure that users agree to each use of the genetic data.

WHAT SHOULD A BUSINESS DO?

For businesses subject to GIPA, reviewing, adjusting and implementing additional consent measures to a website should be paramount, as well as reviewing and updating the privacy policy once more in order to make sure that all notices are present. Furthermore, reviewing current security measures and processes is equally important, due to the more stringent requirements on the restrictions against unauthorized destruction of information.

Ultimately, the biggest change to genetic testing companies under GIPA may be an increased reliance on consumer accounts permitting consumers to login, see, and manage their data in order to give the individualized consents, an increased reliance on click-wrap agreements requiring that consumers scroll through, read, and accept actions by the company before the company takes them, or a combination of the two.

For other businesses, GIPA provides an opportunity to implement and utilize stricter privacy guidelines, and implement them as a potential benefit to consumers, as GIPA requirements largely surpass those under the CCPA.

Continue reading here:
California Enacts the Genetic Privacy Information Act | Newmeyer Dillion - JD Supra

Read More...

Craving the Sun? Twin Study Finds It May Be Genetic – MedicalResearch.com

Tuesday, September 15th, 2020

MedicalResearch.com Interview with:

Dr Mario FalchiHead of Bioinformatics for the School of Life Course SciencesDepartment of Twin Research & Genetic EpidemiologyKings College London

MedicalResearch.com: What is the background for this study?

Response: The relationship between sun exposure and health is a double-edged sword, on one side there is the beneficial effect of vitamin D production and on the other the increased risk of skin cancer, depending on length and frequency of exposure, and on the individual skin type.

Despite public health campaigns, changing sun-seeking behaviour seems to be challenging for some people, even for those with a familial or personal history of skin cancer. Previous investigations have suggested that exposure to UV could be addictive.

MedicalResearch.com: What are the main findings?

Response: We investigated the sun seeking behaviour of 2,500 twins from the TwinsUK cohort, finding that identical twins tend to share a more similar attitude towards sun exposure compared to fraternal twins. Sun seeking seems to be heritable and significantly influenced by genetics. To identify the genes involved, we performed a genome-wide association study of sun seeking behaviour in 260,000 volunteers from the UK Biobank and the US Nurses Health Studies and Health Professionals Follow-up Study, which highlighted five significantly-associated genetic loci. These loci are enriched for genes expressed in the central nervous system, and that have been previously associated with behavioural traits, cognitive function, and addiction. Interestingly, one of these genes has also recently been associated with vitamin D levels

MedicalResearch.com: What should readers take away from your report?

Response: Sun seeking behaviour is influenced by genes involved in neuropsychological traits and addiction. This should be taken into account to improve the efficiency of public health campaigns aimed at reducing sun exposure and incidence of skin cancer.

MedicalResearch.com: What recommendations do you have for future research as a result of this work?

Response: Further investigations aimed at understanding the mechanisms of addiction more generally, and the biological pathways involved will help in identifying potential drug targets to tackle and help controlling a number of risky behaviours that have a negative impact on public health.

Citation:

Sanna Marianna, Li Xin, Visconti Alessia, Freidin Maxim B, Sacco Chiara, Ribero Simone, Hysi Pirro, Bataille Veronique, Han Jiali, Falchi Mario.Looking for Sunshine: Genetic Predisposition to Sun-Seeking in 265,000 Individuals of European Ancestry.Journal of Investigative Dermatology, 2020; DOI:10.1016/j.jid.2020.08.014

We respect your privacy and will never share your details.

Last Modified: Sep 14, 2020 @ 11:12 am

The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.

1

Follow this link:
Craving the Sun? Twin Study Finds It May Be Genetic - MedicalResearch.com

Read More...

The Borofka family celebrates another year with their son, who is suffering from a rare genetic disease – KSBW Monterey

Tuesday, September 15th, 2020

The Borofka family celebrated their son JTs second birthday by throwing him a drive-by birthday parade Sunday. JT Borofka has already achieved more obstacles than most kids his age. Suffering with Triosephosphate Isomerase Deficiency, or TPI, this rare genetic disease has been challenging to say the least.Hes weaker, but at the moment hes stable, explained JTs mom, Tara Borofka. We still work with physical therapy. Hes got a little bit better head control. JT is extremely strong and doesnt give up. If theres a toy that is a little too far, he will reach for it even if he has to fall over.And just like JT, his doctors in Pittsburgh arent giving up either.The next step is to go through all the compounds they have found that could possibly be a cure, explained Jason Borofka, JTs dad.Michael Palladino, Professor of Pharmacology and Chemical Biology at the University of Pittsburgh School of Medicine said those compounds will need to be tested.We can test them first in a mouse model, explained Palladino. If you can show that not only did it work in JTs cell. We have JTs cells to test these drugs in, but when we put it in an animal model with his same mutations, that that animal model improves as well.The process can take anywhere from 8 months to 3 years, but while the Borofkas wait for the cure, theyre focusing on celebrating another year with their son.If you would like more information about JT and the researching being done in Pittsburgh, you can visit their website.

The Borofka family celebrated their son JTs second birthday by throwing him a drive-by birthday parade Sunday. JT Borofka has already achieved more obstacles than most kids his age. Suffering with Triosephosphate Isomerase Deficiency, or TPI, this rare genetic disease has been challenging to say the least.

Hes weaker, but at the moment hes stable, explained JTs mom, Tara Borofka. We still work with physical therapy. Hes got a little bit better head control. JT is extremely strong and doesnt give up. If theres a toy that is a little too far, he will reach for it even if he has to fall over.

And just like JT, his doctors in Pittsburgh arent giving up either.

The next step is to go through all the compounds they have found that could possibly be a cure, explained Jason Borofka, JTs dad.

Michael Palladino, Professor of Pharmacology and Chemical Biology at the University of Pittsburgh School of Medicine said those compounds will need to be tested.

We can test them first in a mouse model, explained Palladino. If you can show that not only did it work in JTs cell. We have JTs cells to test these drugs in, but when we put it in an animal model with his same mutations, that that animal model improves as well.

The process can take anywhere from 8 months to 3 years, but while the Borofkas wait for the cure, theyre focusing on celebrating another year with their son.

If you would like more information about JT and the researching being done in Pittsburgh, you can visit their website.

Read the original:
The Borofka family celebrates another year with their son, who is suffering from a rare genetic disease - KSBW Monterey

Read More...

Can we stand together and overcome adversity and genetics? – Laurel Outlook

Friday, September 11th, 2020

I would like to refer to the excellent article by Barbara Karst in the Outlook September 3rd edition. I take exception to one statement.

Racism is not an inherent attitude. It has to be taught by someone - parents, grandparents, and others who are racist/ bigoted. This statement brings into play the continuing discussion; does man learn through nurture or nature? Do we only learn from the experiences encountered from the time of conception on, or is there residual knowledge passed on to us via genetics?

I would like to refer you to the works of Dr. E. O. Wilson, major proponent of sociobiology, Robert Ardrey and his four book series, The Nature of Man, and to the work of Dr Raymond Dart after his 1924 discovery of the Australopithecus Africanus. Their assertion is we learn by both nurture AND nature. Dr. Darts bold, blunt and controversial statement is both man and animals retain knowledge through instinct. The strongest instinct being the instinct to survive.

There are many facets to the act of survival. Currently most common is the discussion of the herd instinct, or the social need for community. This need for community is so strong, we use the deprivation of community as a form of punishment. We imprison, or remove from society our criminals. Solitary confinement is not only considered a punishment but has proven to be a form of torture. Religions shun or excommunicate controversial individuals. We instinctually repel or fear that which is new or not understood for it may threaten our survival.

To be succinct, we are all bigots. Strength in numbers, or the herd can provide security. We look alike. We talk alike. We think alike. I will be safe. I will survive and in times of stress, we revert to that which we presume will again protect us.

Ironically, the study of genetics has shown us the necessity for diversity. We have learned the inbreeding of animals and humans can cause numerous physical and mental deficiencies. We can also inbreed our society intellectually. The art of learning is augmented through the nurturing of our young and the continued exploration of creation throughout our lives.

In this time of social and economic uncertainty, will we revert to the herd? Retreat to our embattlements and separate into isolated communities fearful of the unknown? Or do we have the courage and strength of character to stand together in an ever expanding herd and face the unknown? Strength of numbers, nature, expansion of knowledge, nurture, they can work together.

Jim Tikalsky of Laurel

Read more:
Can we stand together and overcome adversity and genetics? - Laurel Outlook

Read More...

Brighton researchers lead study on genetics and asthma – The Argus

Friday, September 11th, 2020

A STUDY has shown for the first time that genetics may play a part in how well children respond to treatment for asthma.

Researchers at Brighton and Sussex Medical School (BSMS) say their findings indicate that childrens asthma symptoms could be better controlled with personalised treatments.

Dr Tom Ruffles, honorary consultant in paediatric respiratory medicine, worked with a study team led by Professor Somnath Mukhopadhyay, chairman in paediatrics at the Royal Alexandra Childrens Hospital and BSMS.

Dr Ruffles and Professor Mukhopadhyay presented the results from their trial at the virtual European Respiratory Society International Congress.

According to Dr Ruffles, asthma affects one in 11 children in the UK and a child is admitted to hospital because of their asthma every 18 minutes.

He told the conference: Asthma is a common condition in children that causes coughing, wheezing and difficulty breathing.

We have a number of medicines that are generally effective in treating children with asthma, but they dont work equally well for all children.

We think that genetic differences could have an effect on whether these medicines work and thats what we wanted to examine in this study.

Previous research suggests the majority of children with asthma will benefit from standard treatment with a medicine called salmeterol and their regular steroid inhaler.

However about one in seven children have a small genetic difference which means using this medication could actually result in them having more asthma symptoms.

The BSMS study involved 241 young people aged between 12 and 18 who were all being treated for asthma.

Participants were randomly assigned either to receive treatment according to existing guidelines, or treatment according to particular genetic differences their genotype an approach known as personalised medicine.

Children in the personalised medicine group were treated with an alternative asthma medicine called montelukast.

Researchers followed the children for a year to monitor their quality of life, with a score between one and seven according to how their symptoms were and whether their normal activities were limited by their asthma.

They found that for children with a particular gene who were given personalised treatment, they experienced an improvement in their quality of life score.

Professor Mukhopadhyay said: These results are very promising because they show for the first time, that it could be beneficial to test for certain genetic differences in children with asthma and select medication according to those differences. In this study we saw only a modest effect, but this may be partly because the childrens asthma was generally very well controlled and only a few children experienced any serious symptoms during the 12-month period.

Larger trials, with a focus on those with poorer asthma control, may help us determine the true benefit for children of prescribing in this way.

Link:
Brighton researchers lead study on genetics and asthma - The Argus

Read More...

Harbour BioMed and Hualan Genetic Announced Collaboration to Develop Multiple Innovative Antibody Programs – PRNewswire

Friday, September 11th, 2020

CAMBRIDGE, Mass.,ROTTERDAM, Netherlands, SUZHOU,China and XINXIANG, China, Sept. 11, 2020 /PRNewswire/ -- Harbour BioMed (HBM), a global, clinical-stage, innovative biopharmaceutical company today announced a strategic partnership agreement with Hualan Genetic Engineering Co., Ltd (Hualan Genetic) to develop HBM's three proprietary innovative monoclonal and bispecific antibodies.

Under the terms of the agreement, Hualan Genetic will be responsible for preclinical and process development in exchange for exclusive rights for the development, manufacturing, and commercialization of these innovative antibody drugs in Greater China (Mainland China, Hong Kong, Taiwan and Macau). HBM will retain the rights for advancing the clinical development and commercialization in rest of the world. Both parties will collaborate on clinical developments and drug manufacturing. HBM will receive an upfront payment of USD 8.75M and royalties based on sales in Greater China.

Using its proprietary H2L2 and HCAb fully human transgenic mouse platforms, HBM has developed a series of novel antibody candidates against oncology and immunological diseases. Many of these candidates have already progressed to preclinical and clinical stages. HBM has developed an immune cell engager platform HBICE, and one productof this collaboration with Hualan Genetic is HBICE bispecific antibody.

Hualan Genetic has been dedicated to R&D and the production of monoclonal antibodies, recombinant human coagulation factors, recombinant hormone drugs. To date, the company has 19 recombinant protein products under development and 7 monoclonal antibody products that received approval for the clinical trial, among which several are under Phase III clinical study. Hualan Genetic is a novel biopharmaceutical company specializing in R & D, production and sales with product indications covering a dozen major diseases, including breast cancer, melanoma, lung cancer, colorectal cancer, and diabetes mellitus.

"We are pleased to join forces with Hualan to accelerate the development of novel therapeutics based on our HCAb platform that gives us the flexibility to design and develop innovative therapeutics. This collaboration brings together complementary capabilities to address patients' needs across the world." said Dr. Jingsong Wang, Founder, Chairman & Chief Executive Officer of HBM. "As a global biopharma, we have been collaborating with several industry and academic partners around the world to leverage complementary capabilities in both research and development to advance the next generation of therapeutics in oncology and immunology." he added.

Dr. Wenqi An, General Manager of Hualan Genetic, said, "Business of antibody drugs is one of the core strategic directions for the future development of Hualan Genetic. Previously, Hualan Genetic has successfully completed R&D of 7 monoclonal antibody drugs and established an antibody-drug production line with a scale of 10,000L. Hualan Genetic is on the development path transiting from the production of biosimilars to R&D of products concentrated on the latest antibody technologies (such as HBICE bispecific antibody). Hualan is very pleased to cooperate with HBM to accelerate our buildup ofinnovative product pipeline and accomplish the upgrade from biosimilars to bio-innovative drugs."

About Harbour BioMed

Harbour BioMed is a global, clinical stage biopharmaceutical company developing innovative therapeutics in the fields of immuno-oncology, immunologic diseases, and COVID-19. The company is building its proprietary pipeline through internal R&D programs, collaborations with co-discovery and co-development partners and select acquisitions.

The company's internal discovery programs are centered around its two patented transgenic mouse platforms (Harbour Mice) for generating both fully human monoclonal antibodies, heavy chain only antibodies (HCAb) and HBICE immune cell engager technology for developing bispecific antibodies. Harbour BioMed also licenses the platforms to companies and academic institutions. The company has operations in Cambridge, Massachusetts; Rotterdam, the Netherlands; and Suzhou & Shanghai, China. For more information, please visit: http://www.harbourbiomed.com

About Hualan Genetic

Hualan Genetic has been dedicated to R&D and production of monoclonal antibodies since its foundation in 2013. From generics to biologics, Hualan Genetic has started its independent innovation development path transiting from production of biosimilars to R&D of products with the latest antibody technologies (such as innovative drugs of bispecific antibody and heavy-chain-only antibody). The company has advanced and complete R&D testing platform, pilot test workshop, scale production workshop and inspection testing platform, with four 2,500L and two 500L cell culture production lines of EU and WHO standard design, and various fully automatic filling lines, which can realize production, filling and packaging and lyophilization for various products of different scales at the same time. Hualan also provides CRO and CMO services of biomacromolecules including monoclonal cell strain screening, assessment, process R&D, drug analysis, preparations development, submission and approval for production, filling and packaging and labeling.

Media and Investor Contact:

Harbour BioMed Atul Deshpande PhD, MBA Chief Strategy Officer and Head, US Ops. Phone: +1-908-210-3347 E-mail: [emailprotected]

Hualan Genetic International Business Director Kevin Cai E-mail: [emailprotected]

SOURCE Harbour BioMed

Read the original here:
Harbour BioMed and Hualan Genetic Announced Collaboration to Develop Multiple Innovative Antibody Programs - PRNewswire

Read More...

Genetic sleuths flesh out the story of how coronavirus got its start in Washington – GeekWire

Friday, September 11th, 2020

An epidemiological family tree shows how different strains of the coronavirus that causes COVID-19 spread out across different regions of the world. The red circle highlights WA1, the first confirmed case reported in Washington state and the United States. Click on the image for a larger view. (Nextstrain Graphic)

Detailed genetic analyses of the strains of virus that cause COVID-19 suggest that the outbreak took hold in Washington state in late January or early February, but went undetected for weeks.

Thats the upshot of two studies published by the journal Science, based on separate efforts to trace the genetic fingerprints of the coronavirus known as SARS-CoV-2.

The studies draw upon analyses of more than 10,000 samples collected in the Puget Sound region as part of the Seattle Flu Study during the early weeks of the outbreak, plus thousands more samples from other areas of the world.

One of the studies was conducted by a team including Trevor Bedford, a biologist at Seattles Fred Hutchinson Cancer Research Center who has been issuing assessments of the virus and its spread since the earliest days of the outbreak. The first version of the teams paper went online back in March and was revised in May, months in advance of todays peer-reviewed publication.

The other study comes from researchers led by the University of Arizonas Michael Worobey, who also published a preliminary version of their results in May.

There are subtle differences between the two analyses. For example, Bedford and his colleagues say its most likely that the majority of the infections in Washington state arose from a single case that was introduced in late January or early February.

Worobeys team, however, suggests multiple travelers returning from China during that time frame may have brought the virus to Washington and California.

Bedford and his colleagues say theres not yet enough evidence to rule out the hypothesis that the community spread of coronavirus started with the first reported case, known as WA1, which dates to Jan. 19. But the other teams analysis, which involved running simulations of the virus spread, argues against that scenario.

Worobey and his colleagues also argue against the possibility that the virus came to Washington state via British Columbia, which was an alternate scenario suggested by the data. Instead, they say its more likely that the virus made the jump directly from China.

At the time, foreign travelers were barred from coming to the U.S. from China, but tens of thousands of U.S. citizens and visa holders continued to make the trip even after the ban took effect. Worobey and his co-authors say a similar scenario led to separate introductions of the virus to the U.S. East Coast from China via Europe.

Both studies suggest that closer surveillance of COVID-19 cases, based on the model established by the Seattle Flu Study, could have lessened the impact of the pandemic in the U.S. But in a news release, Worobey said theres a silver lining to the researchers gloomy conclusions.

Our research shows that when you do early intervention and detection well, it can have a massive impact, both on preventing pandemics and controlling them once they progress, Worobey said. While the epidemic eventually slipped through, there were early victories that show us the way forward: Comprehensive testing and case identification are powerful weapons.

Trevor Bedford, Alex Greninger, Pavitra Roychoudhury, Lea Starita and Michael Famulare are the lead authors of Cryptic Transmission of SARS-CoV-2 in Washington State. Jay Shendure and Keith Jerome are the senior authors and there are scores of co-authors, including investigators with the Seattle Flu Study.

In addition to Worobey, the authors of The Emergence of SARS-CoV-2 in Europe and North America include Jonathan Pekar, Brendan Larsen, Martha Nelson, Verity Hill, Jeffrey Joy, Andrew Rambaut, Marc Suchard, Joel Wertheim and Philippe Lemey.

See original here:
Genetic sleuths flesh out the story of how coronavirus got its start in Washington - GeekWire

Read More...

Genetic Links to Drug and Alcohol Use Among Young People With Mental Health Risks – Medscape

Friday, September 11th, 2020

Young people who are genetically predisposed to risk-taking, low extraversion and schizophrenia are more likely to use alcohol, cigarettes, cannabisor other illicit drugs, according to a new University College London-led study.

The researchers say that the findings, published in Addiction Biology, are in line with the notion that people who are more vulnerable to psychopathology or certain personality traits are more inclined to try several types of drugs or use them to 'self-medicate'.

The study used data from the Avon Longitudinal Study of Parents and Children (n=4218) and applied traitstateoccasion models to delineate the common and substancespecific factors based on four classes of substances (alcohol, cigarettes, cannabis and other illicit substances) assessed over time (ages 17, 20 and 22 years). The researchers generated 18 polygenic scores indexing genetically influenced mental health vulnerabilities and individual traits.

The results implicated several genetically influenced traits and vulnerabilities in the common liability to substance use, most notably risk taking (bstandardised, 0.14; 95% CI, 0.10-0.17), followed by extraversion (bstandardised, 0.10; 95% CI, 0.13 to 0.06)and schizophrenia risk (bstandardised, 0.06; 95% CI, 0.02-0.09).

Educational attainment (EA) and body mass index (BMI) had opposite effects on substancespecific liabilities such as cigarette use (bstandardised EA, 0.15; 95% CI, 0.19 to 0.12 and bstandardisedBMI, 0.05; 95% CI, 0.02-0.09) and alcohol use (bstandardisedEA, 0.07; 95% CI, 0.03-0.11 and bstandardisedBMI, 0.06; 95% CI, 0.10 to 0.02).

These findings point towards largely distinct sets of genetic influences on the common versus specific liabilities.

Co-lead author Dr Tabea Schoeler (UCL Psychology and Language Sciences) said: Treatment and prevention programmes that target risk-taking behaviours among young people, while also focusing on adolescents with early signs of schizophrenia, could be beneficial in reducing the risk of developing substance use problems.

Iob E, Schoeler T, Cecil CM, Walton E, McQuillin A, Pingault JB. Identifying risk factors involved in the common versus specific liabilities to substance use: A genetically informed approach. Addict Biol. 2020 Jul 23 [Epub ahead of print]. doi: 10.1111/adb.12944. PMID: 32705754. View full text

This article originally appeared on Univadis, part of the Medscape Professional Network.

View original post here:
Genetic Links to Drug and Alcohol Use Among Young People With Mental Health Risks - Medscape

Read More...

New California law gives consumers more agency over data they share with genetic testing firms – Business Insider

Friday, September 11th, 2020

California lawmakers passed a law that allows consumers to revoke consent for genetic testing companies like 23andMe and Ancestry to use their data, mandating the companies to destroy the DNA samples within 30 days, STAT reported in its weeklynewsletter.

California law boosts genetic data privacy. Business Insider Intelligence

For context, direct-to-consumer (D2C) DNA testing firms often give customers the opportunity to opt into research by consenting to pass along their samples: For instance, 8 million of 23andMe's network of 10 million users haveopted in to participate in research. States are taking the helm at passing D2C genetic testing regulation, while federal lawmakers remain mumcreating a patchworked legal landscape for genetic testing companies to operate in.

Privacy laws have yet to be enacted on a federal level, so state lawmakers are stepping in: Florida recently passedlegislation prohibiting insurance companies from accessing members' genetic insights, which could impact the type and cost of coverage. But as states take charge putting forth their own laws, genetic testing companies will be faced with new obstacles, and it's unclear how they'll navigate adhering to the changing legal ecosystem.

In reference to the new law passed in California, Justin Yedor, a Los Angeles-based data privacy attorney, wascitedin Bloomberg asking, "are [D2C companies] going to provide these rights strictly for Californians or are they going to extend them to all consumers regardless of jurisdiction?" Contending with new rules passed on a state-by-state basis could cause hangups in operations, exacerbating the alreadysofteningD2C genetic testing market.

While a hodgepodge of legislation across the US will be a hurdle, increased privacy laws could assuage consumers' fears and translate into more sales.In a recent YourDNA survey,40%of consumers who had never taken a DNA test cited privacy concerns as the driving reason for why they've shied away. But if companies are transparent about granting consumers more autonomy over their data and how it's handled, they may be more likely to take the plunge.

Still, we think high-flying genetic testing firms will lean more heavily on their healthcare-focused initiatives as they navigate the shifting D2C realm: Some DNA testing firms likeColorandYouScriptthe latter of which is now owned by Invitaeare powering hospitals' precision medicine initiatives, for example.

Want to read more stories like this one? Here's how you can gain access:

Are you a current Insider Intelligence client? Log in here.

Read the original here:
New California law gives consumers more agency over data they share with genetic testing firms - Business Insider

Read More...

Invitae Appoints Kimber Lockhart to its Board of Directors – BioSpace

Friday, September 11th, 2020

SAN FRANCISCO, Sept. 11, 2020 /PRNewswire/ --Invitae Corporation (NYSE: NVTA), a leading medical genetics company, today announced the appointment of Kimber Lockhart to its Board of Directors, effective September 10, 2020.

"We are excited to welcome Kimber Lockhart to our board of directors, bringing expertise in scaling fast-growth businesses that will provide valuable insight as we continue to grow," said Sean George, co-founder and chief executive officer of Invitae. "Her expertise as a product, engineering and infrastructure leader, combined with her perspective on leveraging technology to improve healthcare for patients, will be a valuable addition to our board as we continue to pursue our mission to bring genetics to mainstream medicine to improve healthcare for billions of people around the world."

"I'm happy to join the board of directors at Invitae at this exciting time in the company's continued growth," said Lockhart. "Invitae's approach is unique and the company's capabilities combined with its dedication to its mission to make comprehensive genetic information services widely available has the potential to transform healthcare for patients worldwide."

Lockhart is an experienced technology leader, scaling technology platforms to support rapid business growth. Since 2015, Lockhart has served as chief technology officer at One Medical, a national leader in technology-enabled primary care, where she was previously vice president of engineering from 2014 to 2015. Prior to joining One Medical, Lockhart served in various engineering leadership roles at online file-sharing service Box from 2009 to 2014. Previously, Lockhart was co-founder and CEO of Increo Solutions, provider of document rendering and collaboration technologies, which was acquired by Box in 2009. She holds a B.S. in Computer Science from Stanford University.

About Invitae

Invitae Corporation (NYSE: NVTA) is a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website atinvitae.com.

Contact:Laura D'Angeloir@invitae.com(628) 213-3369

View original content to download multimedia:http://www.prnewswire.com/news-releases/invitae-appoints-kimber-lockhart-to-its-board-of-directors-301128086.html

SOURCE Invitae Corporation

More here:
Invitae Appoints Kimber Lockhart to its Board of Directors - BioSpace

Read More...

BRCA1 and BRCA2 Gene Mutations: I Have a Mutation, What Are My Options? – University of Michigan Health System News

Friday, September 11th, 2020

If a patient learns that they do carry a mutation in their BRCA1 or BRCA2 genes, a genetic counselor can discuss potential options with them.

A common option for women is to undergo increased screening, including getting a breast exam from a health care provider every six months, and also a yearly mammogram and breast MRI.

There are also medications that people with BRCA gene mutations can take to reduce the risk of developing breast cancer, she says.

Doctors call these medications chemoprevention, but that makes it sound like chemotherapy, which its not, Milliron says. It is a medication that you do take for several years, and I think it's really important to have that discussion about the pros and cons and what to expect with a specialized health care provider. Women have to be at least age 35 and finished with family planning before they can consider taking a medication to reduce the risk of developing breast cancer because there is a risk of causing birth defects.

The medication that is usually given to premenopausal women is called tamoxifen, and studies point to more clear benefit for women with BRCA2 mutations. There are additional, related medications that are usually prescribed to postmenopausal women if tamoxifen is not a good option for those women.

MORE FROM MICHIGAN: Sign up for our weekly newsletter

Some women chose to have both breasts removed a prophylactic/risk reducing bilateral mastectomy which has been shown to reduce the risk of developing breast cancer by about 90% to 95%, Milliron notes.

This is obviously a very, very personal choice, Milliron says. If you look at the statistics of the women who choose increased screening with mammogram and breast MRI, and the women who choose risk reducing or prophylactic bilateral mastectomy, there is no difference in the chance of passing away from breast cancer between those two groups. So that is something that I think is very important for patients to know and to understand.

These decisions can be influenced by watching family or friends go through cancer treatment, as can family dynamics as well as cultural and religious considerations, she adds.

Ovarian cancer is a different story than breast cancer, however.

I've been a genetic counselor for 22 years, and that is the only thing that has not yet changed about my job is that we still do not have a screening tool for ovarian cancer that works, Milliron says. So for a woman who has a BRCA1 gene mutation, we usually talk about having the ovaries and the fallopian tubes removed between 35 and 40. And then for a woman who has a BRCA2 gene mutation, we usually talk about having them removed between 45 and 50.

While the statistics vary slightly between studies, research shows this surgery can reduce the risk of developing ovarian cancer and fallopian tube cancer by 80 to 95%.

Birth control pills are also a potential option for women with these mutations to reduce their risk of developing ovarian cancer.

That may influence their breast cancer risk, however, so that's a conversation that we have to have, Milliron adds.

Men who carry a BRCA1 or BRCA2 gene mutation, are at increased risk for prostate cancer. And these can be more aggressive and develop at younger ages. For them increased screening starting about age 40 to 45 is recommended, including prostate-specific antigen, commonly referred to as PSA, testing and a digital rectal exam yearly.

The Rogel Cancer Center is very lucky to have a prostate cancer risk assessment clinic, Milliron says. So many times men are somewhat forgotten in the BRCA1, BRCA2 picture.

You can learn more about cancer genetics on the Rogel Cancer Centers website.

Here is the original post:
BRCA1 and BRCA2 Gene Mutations: I Have a Mutation, What Are My Options? - University of Michigan Health System News

Read More...

Page 13«..10..12131415..2030..»


2024 © StemCell Therapy is proudly powered by WordPress
Entries (RSS) Comments (RSS) | Violinesth by Patrick