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Genetics Underlying Rare Syndrome Identified - Medscape

Two researchers from a UCLA clinical site explained the genetic approach to diagnosing rare diseases to about 50 UCLA students and faculty members Monday.

In honor of Rare Disease Day, Stanley Nelson and Christina Palmer, principal investigators of a UCLA clinical site, discussed how UCLA participates in the Undiagnosed Diseases Network. UCLA is one of seven clinical sites in the UDN, a network of researchers who study rare diseases and introduce further research possibilities based on a team science approach.

Team science is a collaborative research approach that is based on the overall contribution of the network, which includes clinicians, scientists, genetic counselors and other experts, Palmer said. For example, clinical sites such as UCLA provide patient evaluations while other sites act as laboratory cores that provide DNA sequencing.

Under the UDN, UCLA has worked with 63 patients with rare diseases. The network approach allows patients and physicians to seek out other individuals within the network who may be working with the same disease, Nelson said.

Lab investigations can also address a broad spectrum of rare diseases and increase the speed of testing for disease-specific concerns, Nelson said.

Palmer said patients must go through a comprehensive application process to be evaluated by the UDN. Each patient has to demonstrate that their rare disease has gone through extensive prior evaluation and submit other medical information.

Palmer added some diseases the UCLA researchers study include neurological diseases.

Nelson said the UDN uses genome sequencing in their research, which is done at UCLA prior to clinical evaluation. Sequencing patients DNA before evaluating them can present ethical limitations.

This can overwhelm patients with variants that might not be clinically relevant, Palmer said. There exists a potential for unnecessary tests and possible risks with related procedures, (and) patients wait longer for clinical visit.

Researchers gather phenotypes physical characteristics of participants from medical records, not in-person evaluations, Nelson said. Unlike other disorder researchers, who group patients with similar characteristics, UCLA researchers do not intentionally gather patients with similar phenotypes.

Palmer said clinical evaluations start after genome sequencing. Evaluations take one to five days and may include consultations with specialists and other medical tests.

As a clinical site, UCLA does not focus on treatment or symptom management of rare diseases, Nelson said. Although UCLA researchers aim to diagnose patients, doing so is difficult and not necessarily included in the patient follow-up.

About 70 percent of the patients UCLA is working with are children. Researchers have diagnosed five of 35 completed cases.

Siena Salgado, a third-year human biology and society student who attended the talk, said she had previously studied the sociological impacts of the UDNs structure. She said she was interested in the possible ethical implications of the UDNs genetic-based approach.

Michael Gorin, an ophthalmology and human genetics professor who attended the event, said he thinks the UDN becomes a compensatory process that catches up to other countries with health care systems that already have vested interests in genetic diseases.

The psychological benefit for patients to know why they have a disease is powerful, Gorin said. To be able to tell someone we know what genetic variance is causing this disease, even if we cant treat it removes guilt, uncertainty (and) gives people hope.

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UCLA researchers describe methods for diagnosing diseases using genetics - Daily Bruin

Intensive selective breeding over the past 200 years and high extinction rates among feral populations has greatly reduced the genetic diversity present in domestic goat breeds. The effect these pressures have had on Irish and British goat populations has been explored in a landmark DNA study that compared modern-day domestic and feral goats with museum specimens from years gone by.

A collaborative team led by geneticists from Trinity College Dublin compared the mitochondrial DNA (mtDNA) of 15 historical taxidermy specimens from Britain and Ireland and nine modern samples taken from Irish dairy and feral populations.

The team has just published their results in the Royal Society journal Biology Letters. Their work provides the first example in which DNA from taxidermy specimens is used to answer questions about livestock genetics.

Lara Cassidy, a researcher from Trinity's School of Genetics and Microbiology, is the first author of the journal article. She said: "There is an amazing wealth of genetic information locked away in taxidermic collections of animals that were -- and still are -- important for agricultural reasons. As such these collections are invaluable in helping us study the population history of these domesticated animals."

"Studying these specimens and comparing them with modern-day animals also helps to pinpoint existing populations that have retained some of the past genetic diversity, much of which has been lost to industrialized breeding. Retaining this diversity as an option for future breeding is very important, but some of these populations are being pushed to extinction."

The geneticists' study highlights an endangered feral herd living in Mulranny, Co. Mayo, as one such unique population in need of protection. Mulranny goats show a genetic similarity to extinct 'Old Goat' populations that lived on the Isle of Skye in the 1800s. They can therefore be considered among the last remaining 'Old Irish' goats.

The 'Old Goat' populations of Britain and Ireland were once ubiquitous throughout the islands but today have been replaced in agriculture by improved Swiss breeds. The native 'Old Goats' are now only found in small feral herds, whose existence is under constant threat from habitat loss, culling and the ongoing impact of Swiss introgression.

The geneticists sampled a number of different 'Old Goat' herds among the 15 taxidermy specimens. The results showed these goats formed two genetic groupings, distinct from other European breeds. Importantly, all of the modern-day Irish dairy goats fell into a genetic groupings outside these two.

Dr Valeria Mattiangeli, one of the study's lead researchers, said: "This highlights the impact that transportation and mass importation of continental breeds has had on Ireland's goat populations, and underlines how selective breeding for agricultural purposes can impact the genetic diversity of animals."

Sen Carolan of the Old Irish Goat Society, who is a co-author of the journal article, said: "We hope this study will play a key role in saving what was and still is a diminutive creature that is both resilient and charismatic and that represents our cultural and pastoral history."

Story Source:

Materials provided by Trinity College Dublin. Note: Content may be edited for style and length.

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DNA from taxidermy specimens explains genetic structure of British and Irish goats - Science Daily

Genetic testing has many touted future benefits - but are any of them coming to fruition?

Worldwide, at least US$3 billion is spent every year on genetics research, with half coming from governments. Yet less than 3% of this is spent on research addressing how to incorporate genetics into medical practice, and even less is spent applying genetics to the prevention of disease.

Right now, optimism about the potential of genetics is high. Breakthroughs in genetics are reported with enthusiasm, and genetics research continues to comprise a large proportion of all funded research. Funding is often awarded because researchers claim once we understand the genetic components of a disease like cancer, we will be able to better predict, prevent, and even cure disease. Future cures are often reported long before theyre available.

However, some scientists and medical specialists are starting to question whether the money invested in genetic research is well spent. Are we getting the promised benefits from this investment?

Heres an example in which genetic testing applies. Once a person is found to have a hereditary colorectal cancer syndrome, usually after a diagnosis of colorectal cancer, all members of the family can be offered genetic testing for the particular genetic mutation found in the person with cancer.

Family members found positive can then be screened more intensively to prevent future colorectal cancers. Those found not to carry the mutation will not need intensive screening, despite the family history. Research on how this works in practice has found that only about half (56%) of nearly 2,000 eligible family members underwent testing. Those untested were also less likely (compared to those tested) to undergo other forms of screening for colorectal cancer.

We know that for most people who have predictive genetic testing, the process is psychologically beneficial and improves their risk perception. But we know less about the attitudes of people in the community, outside of academic institutions and specialist clinics, who are not having testing. Along with colleagues at the University of Melbourne, I study how genetic testing is received in Australia.

We have previously found only 56% of 862 people offered predictive genetic testing for hereditary colorectal cancer as part of their participation in a research study actually went ahead with a test, and received their results. Earlier, we found similarly low rates of uptake for hereditary breast cancer.

We recently published the results of a study that explored the reasons these people declined genetic testing.

We interviewed 33 men and women who declined the offer of genetic testing and found they were at one of four stages in the process of declining genetic testing:

1) uninformed

2) weak intention

3) conditionally declining

4) unconditionally declining.

Four were considered uninformed because they had not understood the offer, so were not in a position to make a decision. Nine described a weak intention to have genetic testing. They knew there was a test available, and they understood some aspects of it, but they were putting off going ahead with the test because they were not convinced the benefits would outweigh the risks.

Another nine participants were conditionally declining testing, as they had decided not to pursue testing now, but felt they may change their minds in the future. Their reasons for not wanting testing were either that it wouldnt make much difference, or there would be negative side effects of testing. The latter includes increased worry from a positive result, or concerns it would impact access to life insurance products (premiums could rise or they could be declined cover).

The largest group of 11 participants were unconditional decliners who, unlike the other groups, could not imagine going ahead with genetic testing either now or in the future. While the reasons were similar to the previous groups, they were not open to changing their mind.

This research reveals several things first, that community understanding of predictive genetic testing is poor in some groups, and second, the value assigned to this testing is far lower than the hype around genetic discoveries would suggest.

Third, it reveals that significant structural barriers stand in the way of genetic testing, particularly the concern life insurance companies can use genetic test information to refuse cover or adjust premiums.

If genetic tests are going to fulfil their promise of contributing to cancer prevention, they need to be seen as something of value, and they need to reach everybody in the community, not just a select few. There needs to be more effort spent engaging with the intended recipients of new technology, and potential barriers, earlier in the process.

Its foolish to ignore the perceptions, assumptions, and concerns of the very people who are meant to use the technology. Predictive genetic testing for hereditary colorectal cancer is in some ways a straightforward test, with clear consequences for medical management. Yet this testing is far from mainstream or acceptable for the people we spoke to.

Its time to devote more than 3% of funding to translation, to ensure scientific advances in genetics result in improved human health and we get value for the whole society from the money spent on research.

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Why it might be time to reconsider the money spent on genetics research - The Conversation AU

When it comes to knowing what bull buyers want, the Aschermanns have made it their business to be ahead of the game.

At Aschermann Charolais in Carthage, Missouri, the goal is to help commercial cattlemen raise better feeder calves by raising bulls with a reputation for calving ease, good disposition, sound feet and legs, and fescue tolerance. Both Larry and his wife, Peggy, have worked to build that reputation by using their experiences in the cattle business.

Her history is really in cattle and wheat so she provides good insight into the cattle operation about things we need to be aware of for our customers, Larry said, explaining Peggys family raised Herefords and wheat for generations in Kansas. I was born on a grain farm in Illinois and we raised hogs.

During his 4-H years, his great uncle gave him two heifers on shares Larry fed them and they split the money when they were sold and he was hooked. At the age of 13, he began to borrow money and buy cattle.

Theres nothing I like better than watching a cow have a baby calf, he said with a smile.

After attending Kansas State University and showing cattle for people to put himself through school, Larry worked as a fieldman for the American Shorthorn Association and was the first executive secretary for the American Maine-Anjou Association. He went back to Illinois and farmed for a period but quickly learned grain farming was not where his heart was. He took a position at a Monsanto subsidiary called Farmers Hybrids and worked on a program, which was developing eight proprietary composite lines of cattle for a rotational crossbreeding system.

But during that time, I became infatuated with southwest Missouri, Larry said, adding they bought an existing livestock facility and moved to the area.

Under their direction, the Four State Stockyards in Diamond grew to be one of the top livestock markets in the state. It also provided Larry with the unique perspective of seeing what worked for commercial cattlemen and what didnt.

In 1980, the area had a mixed bag of genetically diverse cows, Larry said. Later, I saw my good producers go to Angus bulls to clean up their cowherds or make them more functional.

When it came time to sell the stockyards and reenter the purebred business, he narrowed his breed choices down to Charolais. He chose the breed because Charolais-Angus cross cattle were and still are desired by feedlots and packers, he explained.

I saw a chance to moderate Charolais to where they were functional in the commercial cattle business in this part of the world and, at the same time, provide more growth and hybrid vigor, he explained, adding his confidence in crossbreeding and hybrid vigor really cemented his decision to go with Charolais cattle.

I took the breed and started modernizing them for lack of a better term through moderation, he continued. In the process, the show ring started picking the kind of cattle we were raising so we had great success in the show ring.

During the 15 years they had the stockyards, they saw the difference genetics makes in the prices received for calves due to disposition, growth or hair color.

Larry spends a lot of time on genetics, Peggy said with obvious pride in her husband. I may not have a lot of experience with geneticists but its amazing to me how he can figure out today what the cattle market is going to want and need in the future. And, truthfully, sometimes hes a little ahead of everybody else. He really is. It takes them a few years to catch up with him. But Ive never known him to be wrong, and its amazing how good he is at genetics.

Larry added tweaking the breeding and genetics of their cattle has been a long-term project. Breeding decisions today have to be what customers need years in the future when the animals are actually sold.

They have two to three generations of calving ease built into their cowherd. At the same time, they take pelvic measurements into consideration as well as calving ease. This keeps cow size in check and keeps calving ease consistent in the herd, Larry explained.

Weve worked on calving ease from the sire side but weve also done it from the cow side, he added, emphasizing they have worked diligently to develop cattle that will perform consistently for their customers.

EPDs such as calving ease and birth weight are only one of the tools they use to make breeding decisions.

A lot of the things we select for there are no EPDs, Larry said, emphasizing their focus on foot and leg soundness, fescue tolerance and eye appeal. When youre producing feeder calves that go into the sale ring and the order buyer has a minute to decide breed composition, body condition, whether they look like theyre going to feed good or not, they have to make snap decisions. So, you provide them with cattle that look the part, act the part, have the color, and have the growth.

Peggy added, Disposition is big. If Im out there by myself, I dont want to get run over by a bull.

At Aschermann Charolais, they do not spend much time trying to improve their fescue pastures but instead focus on animals that can handle the often-unimproved fescue pastures where they are expected to perform.

We dont shy away from fescue hay or pasture, Larry said. We almost insist that we grow our bulls on fescue so they are ready to go.

In addition to developing reputable lines of Charolais bulls, they have also branched out and experimented with Charolais-hybrid bulls.

Purebred breeders are, in general, innovators and tinkerers to try and make the product better, he said. We added Red Angus-Charolais crosses to our breeding program and, about five or six years ago, we started experimenting with a breed of cattle from Japan.

The introduction of purebred red Charolais, Red Angus-Charolais crosses and Akaushi crosses have allowed them to expand their offerings to commercial cattlemen who may want black calves, calves with the potential to grade Prime, or just composite bulls.

You have to have years of experience, know what your customers want, and provide what theyll pay for and what will improve their feeder calf production, he emphasized.

We try to respond to what our customers want but, right now, we think we have what they need, the cattleman continued. We try to be a one-stop shop. If you do not want a purebred Charolais, weve got some composites.

For cattlemen wanting to improve their operations, he recommended looking at their bulls.

A bulls half your herd, he said. You can have about any cow but youve got to have good bulls if youre serious about making money.

And the Aschermanns are doing their best to help those producers.

Our main business is Charolais, but we continue to try to achieve our goals of easy calving, good-footed bulls that thrive in the Four State area on the grasses that we have.

Weve bred trait leaders for the breed, he continued. Weve owned and bred cattle that win purple ribbons but our main focus is just on folks that want to raise better feeder calves.

The Aschermanns are believers in the auction system and sell bulls twice a year in sales at the ranch. Occasionally, they have their herd built up enough for a female sale but that typically doesnt take place on a regular basis.

We dont sell any bulls private treaty, he said. If youre going to come to our bull sale and buy a bull, you really dont want to buy something thats been picked over. Youd like to have the opportunity to buy the best one weve got. You may decide not to buy it but I feel like were obliged to give you the opportunity to buy the very best one.

With no private treaty sales, the semi-annual sales help them cater to customers who may have bull needs more than once a year. Bulls average 18 months in age at the sales.

The Aschermann Charolais 24th Edition Bull Sale is scheduled for March 18 at the ranch at 3852 County Road 110, Carthage, Missouri. To view the catalog or for more information, visit http://www.AschermannCharolais.com.

Original post:
Breeder focuses on genetics with goal of improving customers' feeder calves - Farm Talk

CHENNAI:The extinction of a species can be predicted by studying its genetic diversity, says Dr Uma Ramakrishnan who studies the decline in tiger population in India. Speaking on Sunday at Science at the Sabha, an annual event organised by the Institute of Mathematical Sciences (IMSc), she said though tigers in India had a reasonable genetic diversity, they faced a number of other problems.

We found out that a poor genetic diversity was not causing the depletion of the species but that several other problems were contributing to it, said Uma. The higher the internal genetic diversity within a species, the higher its survival chance, as having more genes would also translate to having more ecologically adapted versions of the same genes of that species.

We have over 2,500 tigers living in different parts of India. But what we found out is, the average number of tigers living in a national park is only 19, she said. Having small isolated groups of tigers that are geographically widespread would lead to a wide genetic diversity, but lowering of diversity within each of these patches.

Multiple problems led to the present situation in India. For a species to survive, it must live in a large area in large numbers and must stay connected with genetically variant members of the same species for breeding. The tiger habitat was spread all across Asia before colonial rule. Now, its population is confined to patches in South Asia and mostly in India, says Uma.

One thing we observed from the data is that the growth of urban areas is directly proportional to the depletion of forest land. This means that we further reduce the habitat of these mammals, causing intense fragmentation, said Uma, adding that this would worsen the problems of inbreeding.

Although I worked extensively with tigers, the same problems haunt all dying species. One important solution to prevent fragmentation while still promoting development is to ensure that wildlife corridors must not be encroached upon, she told Express on the sidelines of the main event. She added that historical data showed that the chances of extinction of big animals, such as mammoths, were more.

Other speakers included Yashwant Gupta, who spoke of star-gazing and touring the universe through an astronomical medium; S Krishnaswamy, who spoke about the basics of molecular particles; and Amritanshu Prasad who triggered the minds of young children by speaking about coding and encrypting.

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Predicting extinction via genetics - The New Indian Express

For centuries, it was referred to as a sacred disease and the afflicted sought treatment in temples rather than the physician's shop. Little has changed in the way people look at epilepsy over the years, although treatment and diagnosis of the neurological disorder has made rapid strides. Dr Samuel F Berkovic is among those who have done extensive research on the causes of epilepsy, hoping, in the process, to break the stigma that still shrouds the often dehumanising ailment characterised by seizures. On Sunday, the director of the Epilepsy Research Centre at Austin Health, Australia, answered several questions linked to epilepsy, which affects nearly 50 million people worldwide and 10 million in India. "If you had asked me in the '70s about the cause of epilepsy, I wouldn't have had an answer backed by science," began Dr Berkovic, delivering the 37th T S Srinivasan Endowment Oration. "Today, we have multiple answers and ways to treat epilepsy," he said, adding that imaging of the brain was the first breakthrough in understanding the disease that was until then viewed as supernatural possession. According to him, the neuroimaging revolution, particularly magnetic resonance imaging (MRI), was the biggest step taken towards diagnosis of epilepsy. Advances in the field of genetics, including the identification of genes that cause epilepsy and those that influence the efficacy of antiepileptic drugs, have also revolutionised treatment. "We now know that genetic epilepsy can occur without a family history. Even perfectly normal parents can have a child with epilepsy. At the same time a person with epilepsy can have a normal child," said Berkovic. Describing epilepsy as a highly misunderstood and stigmatised condition, Professor Berkovic said, "Epilepsy can be treated and people suffering from epilepsy can lead a normal, healthy life," at the programme organised by the National Institute of Mental Health and Neurosciences (Nimhans), Bengaluru, and NEUROKRISH Neurosciences India Group, Chennai.

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Advances in genetics have changed epilepsy treatment - Times of India

The following is from an interview transcript

Last year, we had a series of mergers in the agribusiness GMO-corporations worldwide. This has created an alarming concentration of corporate power in the hands of basically three corporate groups.

The first one is Bayer AG of Germany, which made a friendly takeover of Monsanto. The reason for this was that Monsanto became identified in the public mind as pure evil and everything bad about GMOs, which was accurate. This became a burden on the whole GMO project. So, Bayer stepped in, which has a friendly image of an aspirin, harmless, nice company, but in fact is the company that invented heroin in the 1880s and made gas for the ovens of Auschwitz during WWII. Its one of the dirtiest agribusiness companies in the world with a series of homicides and pesticides that killed off bee colonies and many other things that are essential to life and to nature.

Flickr.com/Miran Rijavec (public domain)

ChemChina China State Chemical giant for some reason took over Swiss Syngenta, which makes weed-killers.

Then, Dow Chemicals and DuPont merged their GMO businesses together.

So, we have three gigantic corporate groups worldwide controlling the genetically-modified part of the human food chain. As dangerous as the GMO crops are and the more they sell, it is becoming more and more obvious that they are the chemicals that by contract must be applied to those GMO seeds by the corporations. They demand that if you buy roundup ready soybeans or corn, you must use Monsanto (now Bayer) roundup.

Therefore, this is giving more corporate power to the GMO industry than ever before and thats an alarming trend. They are putting pressure on the bureaucracy in Brussels. One example: there was a massive public campaign against the renewal of the license of the European Commission for Glyphosate. Glyphosate is the most widely used weed-killer in the world. Glyphosate is the main ingredient in Monsantos roundup. The other ingredients are Monsantos corporate secret, but the combination of them is one of the most deadly weed-killers.

The World Health Organizations body responsible for assessing genetic dangers made a ruling the last year that Glyphosate was a probable cancer-causing agent.

The license came up for automatic renewal last year a 15-year license. The EU commission for health was prepared to automatically renew it for 15 years. The European Food Safety Authority (EFSA), which is responsible allegedly for the health and safety of European citizens, recommended approval based on a German study by the German Food Safety Agency that was simply lifted 100% from studies given by the private corporation Monsanto! So, the whole chain was corrupt from the beginning and all the information was rigged. In reality tests have shown that in minuscule concentrations, lower than in recommended levels in Europe and in the US, Glyphosate causes kidney disease, liver disease, and other illnesses that are potentially fatal.

Now, Glyphosate has shown up in urine tests, in urban drinking water, in gardens, in ground water and so forth. And that gets into the system of childbearing women, for example, with embryo. Its all in this!

The EU commission, despite a million petitions this is a record setting and despite recommendations from leading scientists around the world to not renew the license, made a compromise under huge industry pressure and renewed it for 18 months. Why did they renew it for that time? Because at the end of 18 months, they were told by Bayer and Monsanto that the takeover of those two giant corporations will be completed and Bayer is going to replace Glyphosate with another, likely more deadly toxin, but not so well-known as Glyphosate. So, they simply bought time. And that is just one example.

This agenda of GMO is not about the health and safety; its not about increasing crop yields thats a lie that has been proven in repeated tests in North America and all around the world. Crop yields for farmers, using GMO plants, may increase slightly for the first 1-2 harvest years, but ultimately decline after 3-4 years. And not only that! Weve been promised by Monsanto and other GMO giants that the use of chemicals will be less, because of these wonderful traits that GMO plants resist. In fact, the weeds become resistant and you have super weeds, which are 5-6 feet in a height and choke out everything. Its a catastrophe. So, farmers end up using added weed killers to kill the super weeds. This whole mad playing around with the genetic makeup of nature is a disaster from the beginning.

The real agenda of GMO, which I have documented in great detail in my book Seeds of Destruction, comes from the Rockefeller Foundation. It comes out of the 1920s-1930s Eugenics movement. The Rockefeller Foundation during the 1930s, right up to the outbreak of World War II when it became politically embracing too, financed the Nazi Eugenics experiments of Kaiser Wilhelm Institute in Berlin and in Munich. Why did they do this? Their goal was the elimination of what they called undesirable eaters. That is called population reduction.

After the war, the head of the American Eugenic Society, who was a good friend of John D. Rockefeller, at the annual conference of the American Eugenic Society said: From today, the new name of eugenics is genetics. Moreover, if you keep that in mind genetic engineering, the Human Genome Project and so forth they all are scientific frauds. Russian scientists have proven that the entire Genome Project utterly disregarded 98% of the scientifically valuable data in favor of 2% that was completely nonsense and a waste of billions of dollars.

Therefore, they have been obsessed with the idea of how to reduce human population in a way that would not be so obvious as simply going out and carrying out mass-sterilization.

Actually, they have done that in Central America together with the World Health Organization by giving certain vaccines that they cooked-up to have abortive effects. Therefore, the women of child-bearing age in Central America were given these vaccines against tetanus. The organization of the Catholic Church became suspicious because the shots were given only to women, not to men. And they found that there was buried in the vaccine an abortive effect that made it impossible for women to conceive and bear children. This is all covert population reduction.

These are the Western patriarchs who believe they are the gods, sitting on the throne with great dignity, controlling mankind. I think they are a bunch of fools, but they have this agenda of genetic manipulation. Its against nature, its chemically unstable. And I have to congratulate the Russian Federation that they had the courage and the moral concern for their own population to ban GMO cultivation across Russia. That was a step forward for mankind. I would hope that Russia will use its influence to get China to do the similar thing, because their agriculture is in dire need of some healthy Russian input. But this step by Russia to make a GMO-free agriculture is a great step for mankind.

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Genetics Are the New Eugenics: How GMO's Reduce the Human Population - Center for Research on Globalization