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Category Archives: Transhuman News

Dog DNA Tests: How to discover what your dogs true breed is? – WCBD News 2

Posted: November 15, 2019 at 1:44 pm

CHARLESTON, S.C. (WCBD) German Shepherd, Poodle, Doberman are common dog breeds that many of us can identify by simply looking at a dog.

However, identifying a dogs breed may not be as easy as we think.

Some studies in the past have indicated that we arent very good at knowing what breeds make a dog up by just looking at them. We have no better chance of guessing than flipping a coin.

Dr. Lucy Fuller, a veterinarian at Charleston Animal Society, explains that dog DNA tests can give a deeper look into all of the breeds that make up a dog.

There are various different types of dog DNA kits but the process is similar in most of them and the process is pretty simple.

Chelsea Rene used a DNA test on three of her dogs that came from three different backgrounds and sent us the results.

See her results below:

You take a swab that comes with the kit and then swab your dogs cheeks to get some cells. Once you get the cells, you send the swab to a lab where they can collect the cells and break them apart then sequence the genome, which will lead to the results.

The dog DNA tests can be used for more than just discovering a dogs breed, it can also help keep them healthy.

Some of these kits allow you to look for certain gene deficienciestheres one called the MDR1 Gene that certain breeds of dogs lack and when you lack that gene, you cant process certain types of drugs properly, so you have to be careful of what drugs you give

The Charleston Animal Society used a dog DNA test on a dog that got a lot of attention a few years ago.

Caitlyn was the dog that was found with her mouth muzzle taped shut in May 2015.

She got so much attention that Charleston Animal Society decided to get a DNA test on her and the results can be seen below:

Cynthia Ohn adopted her dog, Addison, from Charleston Animal Society and received the results of a DNA test that was done by Addisons previous owner.

Although, Ohn said that she probably wouldnt have thought about doing the DNA test herself, it was fun to see the results.

Addisons results can be seen below:

My dog looks like a Yellow Lab and Shar-Pei mix, but it turns out that hes pretty much every dog species known to man.

There are some people who end up being surprised by the results of their dogs test but the surprising result may come down to simple dog genetics.

Dogs can mix genes even more than people can within a litterIts possible for them to have more than one father for a litterso you might get, even amongst a litter of dogs, you might get more genetic diversity than you would in twins.

Although results may not be 100% accurate, dog DNA kits can be a fun way to see what exactly your dog is made of.

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Dog DNA Tests: How to discover what your dogs true breed is? - WCBD News 2

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Her sister was murdered in 1980. New DNA methods could crack the case, but NY won’t allow it. – NBC News

Posted: at 1:44 pm

Thats where things stood in late 2018, when Wilkowitzs son asked if shed heard the story of the Golden State Killer.

She hadnt, so he told her how earlier that year authorities charged a former police officer with a series of rapes and murders committed in California between 1974 and 1986.

That case, the first to use investigative genetic genealogy to solve a violent crime, sparked a wave of interest in the technique. Parabon, which did not work on the Golden State Killer case, has since helped police solve dozens of murders and rapes, led by the companys in-house genetic genealogist, CeCe Moore.

Wilkowitzs son suggested she contact Moore. She took the advice, asking Moore in a Facebook message to consider researching Eves killing. Moore responded that she wanted to help but could not, because New York wouldnt allow it. She promised to look into the case if Parabon was granted its permit.

Wilkowitz emailed a top official at the New York Department of Health, who confirmed what Moore told her.

New York regulates private companies performing DNA forensic testing to ensure that all testing is scientifically sound and performed with the appropriate controls in place, Anne Walsh, the head of the departments Forensic Identity Section, wrote to Wilkowitz.

Before doing the DNA work required for investigative genetic genealogy, a company must obtain a forensic identity permit from the New York State Department of Health. The agency requires the permit from all private laboratories looking to test materials derived from the human body for the purpose of forensic identification, to ensure that the testing is done properly, according to Jonah Bruno, an agency spokesman. Permits are issued for a variety of testing methods. The process of obtaining the permit is rigorous, requiring regular training, inspections and proficiency testing and the hiring of a qualified lab director.

Parabon began seeking a permit after the company got a warning in 2017 from the Department of Health for helping the New York City Police Department use a DNA analysis similar to whats used in genetic genealogy to develop leads on a murder suspect and the identity of a dead woman.

The company has been trying to meet the permit requirements for more than a year, according to Parabon CEO Steven Armentrout. I think were close, Armentrout said in an October email.

The delay has frustrated law enforcement authorities and some elected officials, including New York State Sen. Phil Boyle, a Republican who represents parts of Suffolk County and wants to eliminate bureaucratic obstacles to the use of investigative genetic genealogy.

It works, but for some reason the Department of Health is slow to get off the mark and were the only state that doesnt allow it, Boyle said.

Defense lawyers and privacy advocates said they are thankful for the restrictions in New York.

Genetic genealogy relies on the same kind of analysis used by direct-to-consumer DNA tests, revealing a lot about peoples lineage including adoptions and out-of-wedlock births and their predispositions to certain health conditions. Critics worry about the government misusing that information.

Critics also worry that people who have shared their profiles on public databases dont understand that they can be used to arrest a relative. And they worry about abuse of the technology by people who are unqualified or unscrupulous.

Its easy to be like, this is terrible, New Yorkers dont have access to justice and victims feel that way, said Erin Murphy, an NYU law professor who researches the expanding use of DNA testing in the criminal justice system. But the system is playing with fire by treating genetic genealogy like its no big deal, she added.

There are private companies and government agencies getting access to our genomic material, and we are moving blindly ahead. I understand the urgency, but we do need to pause, Murphy said.

Moore, of Parabon, said she was itching to work on the Wilkowitz case assuming there was enough DNA available from the suspect for the advanced analysis. She also said she understood the need for regulations. However, for a new technology like this, there has to be a way to get it expedited for approval so families arent waiting, Moore said. And its a matter of public safety.

Beyrer said that if investigative genetic genealogy became an option, the Wilkowitz case would be one of the first unsolved murders hed want to submit. It is the only cold case whose files he keeps in his office. Genetic genealogy is a huge advance and it could blow this case open, he said.

Wilkowitz is newly divorced, and her children have left Long Island. She recently moved to Rhode Island, where she works at a child-care center. The experience forced her to pare her possessions. In her temporary living space, at a friends home, she keeps a framed photograph of her and Eve standing at their doorstep in Oakdale, one of their last pictures together.

In a storage box, there is a portrait of her family long before the murder. There are snapshots of Eve at various ages, up until soon before she was killed. There is a baggie full of clothing tags with Eves name stitched on them, saved by their mother when they were young children.

These are the only keepsakes of her sister.

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Her sister was murdered in 1980. New DNA methods could crack the case, but NY won't allow it. - NBC News

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DNA, blood samples support theory Kelsey Berreth was killed in her condo – KMVT

Posted: at 1:44 pm

CRIPPLE CREEK, Colo. (KDVR/CNN VAN) In the eighth day of the Patrick Frazee murder trial, an investigator testified tests show blood splatters in Kelsey Berreth's condo are consistent with her DNA.

Jurors also heard from some of Berreths coworkers who say they were concerned about her before her disappearance on Thanksgiving Day, 2018.

Frazee, her fiance, is suspected of killing her.

Some of Berreths former coworkers said in court Wednesday that she had asked for a leave absence from her flight instructor job at Doss Aviation just before she disappeared.

The jury was told she had been suffering from mental fatigue.

"She had gotten into a confrontation with Patrick he was acting like a (expletive)," said one friend.

A forensic anthropologist talked about a tooth found on Frazee's property. An image of the tooth was displayed to the jury on a large screen.

This tooth has been broken. This is not a whole tooth. I think its human," the anthropologist said.

Another investigator later said the fragment did not provide enough DNA to determine its source.

Investigators have theorized Frazee burned Berreths body and the tooth was left behind.

On Wednesday, the judge said nearly 70 witnesses have testified so far.

Closing arguments could be made as soon as Friday.

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Why some believe and others reject that DNA could vindicate man executed for murder – Commercial Appeal

Posted: at 1:44 pm

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On the day she was to graduate from the Memphis Naval Air Station in 1985, Marine L. Cpl. Suzanne M. Collins nude and mutilated body was found under a tree in a Millington park. She had been raped and impaled by a tree branch, strangled and severely beaten.

The 19-year-old had wanted to become a jet pilot even though she had been told that women werent allowed to fly jet planes.

In 2006, after years of legal wrangling and multiple stays of execution, Sedley Alley was killed by the state by lethal injection, convicted of kidnapping, murdering and raping Collins.

Now, Alleys daughter, administrator of his estate, is asking 13 years after her fathers death that DNA be tested for the first time.

A judge could rule on whether to test the DNA as early as Monday.

Marine Corps Lance Corporal Suzanne Collins, 19, was murdered in 1985 in Millington.(Photo: U.S. Marine Corps)

But there are multiple narratives surrounding Collins brutal death, Alleys years of appealsand whether testing the DNA today could reveal Alleys innocence or confirm his guilt.

In one narrative,put forth by Alleys defense in the original trial, Alley had multiple personality disorder and couldnt be responsible for the crime. That tale involves a personality named Death, riding on a white horse and wearing a black cape and hood.

Another narrative, put forward by the prosecution,depicts Alley as a perverse man with little empathy, fascinated by violent sex, who may have been spotted by the young Marine while committing a burglary at an admirals home.

Today, those advocating for DNA testing say Alley was coerced by police into making a false confession, and that he consistently said he had no memory of the night Collins was murdered and that the evidence used against him, along with his original confession, doesnt add up.

Whether the judge decides to move forward with the testing of the DNA may not hinge on any of those narratives, but rather on a technical argument: That of whether the estate of a dead man has the right to petition for post-conviction relief.

Although the Tennessee courts denied the request for DNA testing prior to Alley's execution, a ruling by the Tennessee Supreme Court would later open the doorfor the possibility of items from the crime scene being tested, according to the petition by April Alley, Alleys daughter.

April Alley is represented by The Innocence Project, a nonprofit that advocates for DNA testing and criminal justice reform.

April Alley, daughter of Sedley Alley, listens as Barry Scheck, Innocence Project co-director, speaks Oct. 14, 2019, during a hearing at the Shelby County courthouse in Memphis.(Photo: Max Gersh / The Commercial Appeal)

Innocence Project attorneys have argued that stains on the t-shirt Collins was wearing and on her bra should be tested, as well as DNA from red underwear found by her body that the prosecution had argued belonged to the assailant.

Although April Alley immediately raised the possibility of calling for testing of the DNA after her fathers execution, the renewed push comes after The Innocence Project learned another man who took courses from the same training school in Millington as Collins is under indictment for homicide and rape and may be a serial offender, according to their petition.

Kelley Henry, a federal public defender who once worked with Sedley Alley, said a medical examiners report also placed the time of Collins death at a time that we can prove Sedleys whereabouts.

That document, which had been suppressed, led to a full-scale reexamination of the case with fresh eyes, Henry wrote in an email.

Sedley Alley: Thirteen years after death-row inmate executed, court asked to test DNA that could exonerate Tennessee man

In an October hearing, Criminal Court Judge Paula Skahan heard arguments about whether DNA testing should be allowed.

There, Steve Jones, assistant district attorney general, argued Tennessee law guarantees a right to post-conviction relief for "a person convicted or sentenced. In this case, the petition was filed by the estate for Sedley Alley, not the person, he said, making it not applicable.

The states response to the Alley estates petition says, If the General Assembly had wanted to extend that standing to estates of deceased persons, it surely could have done so. It did not.

Theres also the question of whether the DNA could actually exonerate Alley. Those supporting the petition say if several items produced a male DNA profile that matched each other, but not Sedley Alley, that would suggest someone other than Alley committed the crime. And, if the DNA matched someone in an offender database, that would be powerful exculpatory evidence, they wrote.

But the state has argued there is already overwhelming evidence for Alleys guilt.

And, they pointed out, in their response, Alley confessed.

Death row inmate Sedley Alley, who was executed in 2006.(Photo: File)

Sedley Alley said a figure called Death, wearing a black cape and hood and riding a white horse, was with him on the night he raped and killed Marine L. Cpl. Suzanne M. Collins, a psychiatrist testified yesterday, began a Commercial Appeal article describing Alleys trial on March 17, 1987.

However, the assistant district attorney general read letters Alley wrote in which he told family of his plans to plead temporary insanity.

A taped confession was different: In it, Alley said he killed Collins in a drunken accident, striking her with his car, then stabbing her in the head with a screwdriver when she came upon him unexpectedly; Then he disrobed her and mutilated her body to stage it like a rape, he said.

After Alley was arrested, he confessed and even led police to the scene of the crime and the tree where he said he removed the limb used in the attack

A county medical examiner testified her injuries did not show she had been struck by a car or stabbed in the head (although she was beaten, and a screwdriver found nearby).

Mental health specialists from the Middle Tennessee Mental Health Institute, where Alley had been kept pre-trial, testified Alley faked mental illness while there to develop an insanity defense.

The prosecution used all of this to say Alley was self-serving, that he had brutally murdered Collins, minimized his responsibility in his confession and tried to plead insanity to shift the blame.

Rebecca Easley, a victims advocate who became a friend of Collins parents, said they were convinced of his guilt.

They were wonderful people, just the nicest people youd ever want to meet, she said. Theyre not the type of people that would want an innocent person to be executed. Thats for certain. They had no doubt. They had no doubt, they didnt question (his guilt) at all.

But advocates for Alley and now his daughter say the inconsistencies between Alleys confession, the crime scene and his defense point to something different: That he was innocent, coerced into a false confession by the police.

Sedley consistently said that he was coerced by the police, that they put a gun to his head, and that he had no memory of the night that Ms. Collins was murdered, Henry said. He always said that if he did it that he deserved to be executed, but he just did not believe that he did.

Alleys lawyers did not formally raise the claim of Alleys innocence until 2004, just 30 days before his scheduled execution.

There are other pieces of evidence or lack thereof that The Innocence Project points to. A witness description did not match Alley, no fingerprints from Collins were found in his vehicle, blood on the headlights belonged to an animal, their petition says. Small traces of blood found elsewhere on the car was Collins blood type, but also the same blood type as Alley.

And, an expert whose testimony they included in their petition said, the officers who interrogated Alley before taping his confession contaminated, and thus tainted, Mr. Alleys statement by supplying him with non-public crime details that he then regurgitated back to them in his confession.

Tennessee executions since 2000: Sedley Alley; Date of Execution: June 28, 2006 (For Murder)(Photo: File Photo)

In August 1989, the Tennessee Supreme Court affirmed Alleys death sentence, saying it was not imposed in arbitrary fashion, that the evidence supports the jurys findings of aggravating circumstancesand that the sentence of death was not disproportionate to the penalty in similar cases.

When the Board of Probation and Parole decided 4-3 that a reprieve should be allowed for Alley to seek DNA testing, Gov. Phil Bredesen wrote, Based on the overwhelming weight of the evidence against him, I believe Mr. Alley to be guilty of this heinous crime. However, I am acutely aware that in capital cases mistakes cannot be corrected, and so out of respect for the Boards recommendation, I am reluctantly issuing a reprieve for fifteen days.

Today, the state argued in their response to April Alleys petition that Sedley Alley already had his day in court.

He challenged his conviction and sentences many times over, they wrote. He had a full and fulsome trial followed by a direct appeal. He had a full post-conviction review.

For April Alley, according to the petition, hearing her father tell her that he had been coerced into confessing haunt(s) her to this day.

April Alley wants to know the truth, the petition reads. If her father was innocent, she wants to know who really committed the crime for the sake of everyone involved in this tragic event, and to make sure that person never commits another crime.

What Skahan, the judge, will decide is uncertain.

Barry Scheck,co-director of the Innocence Project, was unavailable for comment, and a representative of the Shelby County District Attorney Generals Office said Jones didnt want to comment.

Henry said she quit predicting what courts will do a long time ago.

Katherine Burgess covers county government, religion and the suburbs. She can be reached at katherine.burgess@commercialappeal.com, 901-529-2799 or followed on Twitter @kathsburgess.

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Give me your tired, your poor and your DNA | TheHill – The Hill

Posted: at 1:44 pm

Give me your tired, your poor, your huddled masses yearning to breathe free, the wretched refuse of your teeming shore.

And also, give me your DNA.

One hundred sixteen years after the patriotic poet Emma Lazaruss words were etched onto the base of the Statue of Liberty, we as a nation have moved to warehouse en masse the molecule that many consider an integral component of a persons unique self, DNA.

The Department of Justice (DOJ) has released a new proposed rule to facilitate collection of DNA from all migrants detained at our borders, including children, for the federal criminal database. The move comes in an effort to identify criminals among the migrants that cross our southern border. However, its sheer enactment presumes that all migrants are or will be criminals, rather than the tired, poor, and yearning families that comprise the majority of Central American migrant families.

Migrants are not de facto criminals. Somemight be, but treating all migrants as criminal suspects by taking their DNA for a criminal database is tantamount to creating a surveillance database of one sect of the American population.

Back when the use of DNA was in its infancy, some brilliant scientists recognized that storing DNA data on convicted criminals would help solve previously unsolved crimes.

As it turns out, DNA data collected from arrested (but not convicted) people can also solve crimes, while storing that data can also assist in solving future crimes.

In 2008, the federal law that governs the Combined DNA Index System (CODIS) changed to allow collection of DNA from federal arrestees and also from immigrant detainees.

In 2009 when the law was implemented, immigrant detainees were rarely legally processed as criminals. This is because crossing the border illegally is a minor offense, and many detainees present themselves at the border for asylum.

Back then, it was exceedingly expensive to consider collecting DNA from the hundreds of thousands of detainees. Moreover, processes were not in place to make it work.

Immigration officials would have needed to procure DNA samples from people who spoke another language and send these samples to the FBI to be included in a database that had strict requirements for uploading the sensitive DNA data. It would have necessitated extensive training and infrastructure to accommodate all those samples.

On the immigration front, DNA collection didnt make sense traditional fingerprint databases are far more efficient for detecting repeat border-crossers. Sending DNA to the FBI was a one-way ticket, by law, with privacy protections preventing the sharing of DNA data with other agencies, including the Department of Homeland Security (DHS). For these reasons, the attorney general at that time provided an exemption for collecting DNA from detainees.

Now, with immigration at the center of the U.S. political agenda, some of this has changed. Migrants at the U.S. southern border are processed as criminals under a zero-tolerance policy. The growth of and technological improvements to CODIS in the past decade have demonstrated its increased capacity to solve crimes.

The Rapid DNA Act of 2017 makes it possible to expedite processing DNA outside of laboratories. And this years pilot program to use rapid DNA instruments at the border has shown success in detecting fraudulent biological relationship claims.

The DOJs proposed regulation will allow cooperation between the FBI and DHS to enable the DNA sample procurement and cross-agency communication necessary to overcome some of these obstacles. Fingerprinting is still faster and cheaper for detecting repeat border-crossers, but rapid DNA will eventually catch up and the cost will continue to come down.

Americans must be mindful of the principles behind this proposal, which is open for public comment until Nov. 12. Some migrants might be criminals, wanted for prior crimes, as are some of the people that walk into any bus station or department store each day. So yes, collecting DNA from migrants will be useful in solving both past and future crimes.

As the late U.S. Supreme Court Justice Antonin Scalia reminded us in 2013 when heopposed the collection of DNA from arrestees, the implementation of vast collection of DNA could have far-reaching ramifications:

Today's judgment will, to be sure, have the beneficial effect of solving more crimes; then again, so would the taking of DNA samples from anyone who flies on an airplane (surely the Transportation Security Administration needs to know the identity of the flying public), applies for a driver's license, or attends a public school. Perhaps the construction of such a genetic panopticon is wise. But I doubt that the proud men who wrote the charter of our liberties would have been so eager to open their mouths for royal inspection.

Collecting DNA from select groups of non-criminal migrants skews the criminal database to be comprised of primarily minorities. The justice system is already skewed, withmore people of color in CODIS. If the goal is to grow the database by collecting DNA from innocent people to solve crimes, then auniversal DNA database of all Americans and visitors would be far moreequitable. A universal DNA database could haveoversight, an ethics board to consider cases and appropriate use, and it would certainly solve more crimes.

If we as Americans are uncomfortable with a universal DNA database, then let us instead embrace our tired, poor and yearning fellow humans and return to solving crimes through our competent police investigations, rather than through broadening DNA data acquisitions.

And let us remember these words of wisdom from Dwight Eisenhower: A people that values its privileges above its principles soon loses both.

Sara H. Katsanis is an assistant research professor of pediatrics at Northwestern University Feinberg School of Medicine. She also is a researcher at Stanley Manne Childrens Research Institute at Ann & Robert H. Lurie Childrens Hospital of Chicago.

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Researchers use CRISPR to eliminate HIV in mice, DNA and all – Massive Science

Posted: at 1:44 pm

When two species, be they large seabirds and their parasites or tiny bacteria and their viral enemies, share an environment over evolutionary time, they are said to co-evolve. This simply means that they have learned how to deal with each other. Sometimes different species learn to peacefullycoexist (and even help each other), but less friendly interactions are also common.Thiskind of feuding leads to the constant development by each species of new strategies for taking advantage of its enemies, or for defending itself.Recently, researchers have adapted some of these ancient biological tricks, such as CRISPR, to be wieldedagainst the diseases that currently plague us.

Matteo Farinella

A powerful genome editing technology, CRISPRallows researchers to alter DNA sequences, and has becomea versatile tool of modern molecular biology and medicine.Butlong before humans developed this technology, CRISPR systems naturallyevolved in bacteria as antiviral immune responses. It seems fitting,therefore, that some of the most promising applications for CRISPR are developingantiviral therapies.

Recently, Americanresearchers successfully used CRISPR to eliminate HIV in mice. HIV is a retrovirus a type of virus that inserts copies of its own genetic code into the genomes of the cells that it infects. An existing HIV treatment, LASER ART (which stands for long-acting slow effective release antiretroviral therapy), isvery effective at stopping the production and insertion of new copies of the virus, but itcan't remove genetic codethat has already been created. In other words, modern therapies can stop the HIV infection from spreading, but cant eliminate it entirely. That's whyHIV is considereda chronic disease that requires lifelong treatment.

A permanent cure for HIV (and other retroviral diseases) would require removing or inactivating the viral DNA that is mixed with the hosts own genome. Conveniently, cutting through unwanted DNA sequences is CRISPRs specialty.

Inbacteria infected by viruses in natural conditions,special enzymes recognizethe intrusion of foreign DNA.They use that DNA as a template to produce guide RNAs, whichCas9, a DNA-cutting enzyme, can use to find its intended targets. The next time a bacterium encounters this foreign DNA,Cas9 can recognize and destroy it. This protects the bacterium from repeated infection by the same viruses.

With CRISPR, scientistscan use artificially-createdguide RNAs to direct Cas9 to the targets they're interested in. In this particular HIV study,after suppressingthe HIVinfection with LASER ART, the researchers treated the mice with edited guide RNAs that excised the viral DNA from the genome actually "curing" the mice of the chronic disease.

Although this approach is incredibly promising, an important caveat is that the editing worked in less than half the mice.

Rama on Wikimedia Commons

Although this approach is incredibly promising, an important caveat is that the editing worked inless than half the mice. The excision of the viral DNA was incomplete in the rest. It is plausible that theexcision efficiency could be improved by increasing the duration of CRISPR-Cas9 treatment. But a worrying possibility is that the HIV virus will quickly develop mutations that help it avoid detection by the synthetic guide RNA. This exact scenario was encountered in a recent attempt to use a similar CRISPR technique to protect the food crop cassava from gemini viruses (note: the lead author of this cassava study, Devang Mehta, is a Massive contributor). Native bacterial CRISPR systems would naturally develop new guide RNAs to combat the new viral strains. But for use in mice, cassava, or humans, scientistsmight find themselves forced to constantly re-engineer synthetic guides, or to use multiple guides for simultaneous targeting of different parts of the viral genes.

We've seen similar arms races with other types of medical treatments derived from natural sources. The first modern antibiotic, penicillin, was isolated from a mold. Many clinically-useful antibacterial agents have since been isolated from microbes but the problem of antibacterial resistance is growing.Whenconventional antibiotics fail, doctors have recently started turning toviruses that can be used tospecifically target bacteria to fight off infection, a strategy known as phage therapy.

This demonstration of CRISPR as an antiviral therapy may be among the first of many but it is part of a longstanding trend of borrowing tools from simple organisms for our own battles.

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The Association Between Interleukin 1 Beta Promoter Polymorphisms And | OPTH – Dove Medical Press

Posted: November 14, 2019 at 2:44 pm

Karim Mahmoud Nabil,1 Ghada Mohamed Elhady,2 Heba Morsy2

1Department of Ophthalmology, Faculty of Medicine, University of Alexandria, Alexandria, Egypt; 2Department of Human Genetics, Medical Research Institute, University of Alexandria, Alexandria, Egypt

Correspondence: Karim Mahmoud NabilDepartment of Ophthalmology, Faculty of Medicine, University of Alexandria, Sultan Hussein Street, Khartoum Square, Alexandria 21523, EgyptTel +2034869545Fax +2034255781Email Karim_nabil_ophth@yahoo.com

Purpose: In the present study, we investigated whether interleukin 1 beta (IL1B) promoter polymorphisms are associated with keratoconus in an Egyptian population and their association with disease severity.Methods: A total of 95 Egyptian keratoconus patients and 126 Egyptian healthy controls were enrolled in the study. Two IL1B single nucleotide polymorphisms (SNPs) (rs1143627 and rs16944) were genotyped using Taqman real-time PCR to compare haplotype, genotype, and allele frequencies between cases and controls (primary outcome) and their association with disease severity (secondary outcome).Results: Statistically significant association was observed for rs1143627 and rs16944; the T allele of rs1143627 and the G allele of rs16944 were associated with an increased risk of keratoconus (p < 0.001, odds ratio = 3.313, 4.770, respectively). The TT genotype of rs1143627 and the GG genotype of rs16944 were strongly associated with an increased risk of keratoconus (p < 0.001, odds ratio = 5.631, 11.478, respectively). The G allele of rs16944 was associated with an increased curvature of the flattest corneal meridian Kf in keratoconus (p = 0.041). The GG genotype of rs16944 was associated with an increased curvature of the flattest corneal meridian Kf, steepest corneal meridian Ks and average corneal curvature Kavg in keratoconus (p = 0.01, 0.046, 0.023, respectively).Conclusion: IL1B is suspected to play a crucial role, both in development and severity of keratoconus in Egyptian population.

Keywords: interleukin 1 beta, promoter polymorphisms, keratoconus, Egypt

This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License.By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

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Fires explode across Australia as the continent records it’s first-ever day without rain – Massive Science

Posted: at 2:44 pm

This week, over 8,300 researchers, exhibitors, and journalists arrived in Houston to attend the 2019 American Society of Human Genetics (ASHG) Annual Meeting to learn more about cutting edge research in the field of human genetics and genomics. Interestingly, one issue kept popping up throughout the ASHG meeting: the lack of diversity in human genomics research.

This isnt a new issue.

The human reference genome the sequence to which all DNA is mapped in reference to is largely based on individuals of European descent, making it difficult for individuals from under-represented groups to benefit from current progress in genomics. In fact, 70% of the human reference sequence actually originates from a single individual. While this reference genome has helped pushed the field forward, it doesnt accurately represent our global genomic landscape.

Researchers are aware of this issue and heres how theyre tackling diversity in genomics research.

One remarkable effort is being carried out by the Human Hereditary and Health in Africa (H3Africa) consortium, which was launched in 2013 to address the under-representation of African individuals in genomics. H3Africa, with support from the National Institutes of Health, sequenced the entire genome of 426 individuals from 13 different countries, providing a more complete picture of Africas genomic diversity.

In the opening ASHG plenary session, Neil Hanchard, assistant professor at the Baylor College of Medicine, shared that this large-scale sequencing effort identified over three million novel single nucleotide variants which have not yet been observed in current (largely European) genomic databases. For example, surveyed populations from Mali and Botswana had at least 6,000 novel common variants. This concept of "rare" and "common" variants is particularly important since how frequent a variant is in a population is often used to infer pathogenicity (i.e. how damaging it is). The H3Africa consortias initial findings show that some previously classified pathogenic variants are in fact not rare and are found in variable frequencies across African genomes.

This is a starting point, said Hanchard at the plenary meeting. African genomes have the potential to inform the [genomics] field more globally.

In a similar vein, a group of US researchers sequenced over 300 genomes from around the world, including both male and female individuals from different sub populations. By looking at breakpoints and sequence content, the researchers were able to use a technique called de novo assembly to align unique sequences (which previously could not be mapped) to the reference genome, thus constructing a more representative, and detailed, reference genome.

In addition to ongoing efforts like the ambitious All of Us program, these efforts can together help us move towards a future where people everywhere regardless of their geographic location or ethnicity - will all be able to reap the benefits of human genomics research.

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The Russian Military Will Soon Assign Soldiers Based on Their "Genetic Passports" – Yahoo News

Posted: at 2:44 pm

Key Point: the Russian military will be using genetics to assess that most unpredictable of human qualities: how a person will react in combat.

Want to be a Russian paratrooper or tank commander? Then youd better hope you have the right genes.

The Russian military will be assigning soldiers based on their genetic passports.

The project is far-reaching, scientific, fundamental, Alexander Sergeyev, the chief of Russias Academy of Sciences, told Russian news agency TASS back in the summer (English translation here). Its essence is to find such genetic predispositions among military personnel, which will allow them to be properly oriented according to military specialties.

It is a question of understanding at the genetic level who is more prone to, for example, to service in the fleet, who may be more prepared to become a paratrooper or a tankman.

Advances in medical technology are making genetic testing a common medical procedure. It is used to detect genetic diseases such as cystic fibrosis, or the risk of developing certain diseases such as colorectal cancer. Pregnant women can also choose to be tested to determine whether their baby has genetic abnormalities such as Down syndrome.

But Russian President Vladimir Putin has embraced genetics with a passion. In March, the Kremlin issued a decree that called for implementation of genetic certification of the population, taking into account the legal framework for the protection of data on the personal human genome and the formation of the genetic profile of the population. Ostensibly this is to protect Russias population against chemical and biological attack, as well as safeguard Russias genetic patrimony from Western spies and saboteurs.

It has also spurred fears that Russia is edging towards a Nazi-style eugenics program in which certain groups, such as those Russians of Slavic ancestry, will be favored.

Either way, the Russian military will be using genetics to assess that most unpredictable of human qualities: how a person will react in combat. The project involves not only the assessment of the physiological state, but also the prediction of human behavior in stressful, critical situations that are associated with the military profession, says Sergeyev, Russia's chief scientist. Resistance to stress, the ability to perform physical and mental operations under the conditions of this stress, and so onall this may be contained in a soldiers genetic passport.

It is not just soldiers who will be genetically profiled. In December 2018, another Russian scientist announced that cosmonauts will be tested. The first area is the research into the humans genetics from the viewpoint of using it in the selection [for the cosmonaut program], said Lyudmila Buravkova, deputy director of the Institute of Medical and Biological Problems at the Russian Academy of Sciences. The second area is the attempt to remedy genetic errors as much as this should be done before a flight.

Story continues

To be clear, many militaries use some kind of testing, such as the U.S. militarys Armed Services Vocational Aptitude Battery (ASVAB), to determine whether someone is qualified for military service, and whether they are suitable for certain positions such as technical jobs. The U.S. military collects DNA from soldiers to identify their bodies if they are killed. The Defense Health Agency told the National Interest that the U.S. military does not use genetic testing to assign personnel.

Thats not surprising, given that genetic testing would certainly raise concerns over privacy and racial profiling. A civil rights issue that isnt likely to be a cause of furor in an authoritarian society like Russia.

The bigger question is whether an army can decide whether someone is better suited to be a pilot, a rifleman or a cook based on their genetic profile.

Michael Peck is a contributing writer for the National Interest. He can be found on Twitter and Facebook.

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At-Home DNA Tests Still Need the ‘Human Touch,’ Say Panelists at Genomics Roundtable Workshop – National Academies of Sciences, Engineering, and…

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By Stephanie Miceli | Nov. 13, 2019

When Sara Altschule took a 23andMe ancestry test, the results confirmed what she already suspected: She is 77 percent Ashkenazi Jewish. However, months later, after opting into add-on health tests, she received life-changing news: She had a BRCA2 gene mutation, which is particularly prevalent among Ashkenazi Jewish women. Altschules BRCA2 mutation meant her lifetime risk of developing breast cancer is about 69 percent; for ovarian cancer, it is about 17 percent.

As at-home genetic tests grow in popularity, some individuals have expressed concern about the complexities of the results. Speaking about her experience with at-home genetic testing at a recent workshop of the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine, Altschule told attendees, The results not only probably saved my life, but may have also saved the lives of people in my family who now know they are also BRCA2 positive. While empowering for her, she also wishes she had received the results from a genetic counselor not via email.

Traditionally, there have been two main types of genetic testing: traditional tests initiated by a doctor, and direct-to-consumer (at-home) tests. Most people do a combination of both, said keynote speaker Robert Nussbaum, chief medical officer of Invitae. About one-third of people who take an at-home test share the results with a provider, who can make appropriate referrals based on the results, he said.

Knowledge Is Power

After seeing a genetic counselor and getting a more comprehensive blood test, Altschule decided to undergo a preventive double mastectomy at the age of 31. I felt powerless during this process, and I wanted to take my power back. This was the easiest and toughest decision of my life, said Altschule.

Panelist Dorothy Pomerantz, who also received news of her BRCA status via 23andMe, said online test results are not a replacement for a one-to-one conversation with a trusted provider. Pomerantz considers herself lucky to have received actionable information, though she still has complicated feelings about how that information was delivered.

This information is complicated and nuanced. We need someone to walk us through the dark, said Pomerantz. When my genetic counselor confirmed my results, she asked me what I needed in that moment. Did I need to vent? Did I want information? Did I need to be alone or cry?

Affordability Is Part of Accessibility

Aside from having access to genetic testing in the first place, Altschule and Pomerantz acknowledged they had the resources to get immediate follow-up testing and surgery.

What about those who cant get their doctors on the phone? What about those who dont have doctors at all? asked Pomerantz.

Without insurance, someone with a risk of cancer may not have those options, said Sadie Hutson, director of the Cancer Genetics Program at Pikeville Medical Center in Kentucky. In the Appalachian communities where she works, coal mining, the dominant industry, has been linked to high incidences of lung cancer. However, many people have to live with the knowledge of that risk and the inability to act on it.

Affordability of genetic testing is a very real problem, said Hutson.

There is also a dire shortage of genetic counselors in the region, she added. Hutson has partnered with mobile clinics and faith-based organizations that provide genetic testing and counseling free of charge, particularly to the regions Medicaid population. Hutson also noted the importance of offering free follow-up testing to family members.

Panelists discussed the accessibility of direct-to-consumer genetic tests for underserved and rural populations and ways to increase engagement, literacy, and reduce disparities.

Steps Toward Including All of Us

We have a skewed evidence base in human genomics research, said Malia Fullerton, professor of bioethics and humanities at the University of Washington School of Medicine. Because certain populations are underrepresented in research, when they do receive genetic testing, there is a lack of data that they can act on. Joyce Tung, 23andMes vice president of research, acknowledged most of the companys customers are white people of European descent and it wants to change that.

We cant provide information that we dont have, she said. A lack of data can halt progress and new discoveries in diseases that primarily affect diverse communities such as sickle cell disease, which is prevalent in people of African descent. Tung highlighted several initiatives at 23andMe that aim to improve diversity, including the African American Sequencing Project, Global Genetics Project, and the Latino Sequencing Project.

In addition, underrepresented populations are more likely to receive uncertain test results, often because their genetic variants have not been well-studied. As a result, they may experience unnecessary testing or lifestyle changes, or false reassurance, and the psychological burden that comes with it, Fullerton said.

To address the lack of diversity in genetic databases, last year, the National Institutes of Health launched its All of Us research initiative. It aims to collect data from 1 million Americans from various population groups.

The vast majority of 23andMe consumers 80 percent agree to share their data in the hopes of contributing to science and new insights about health and disease. However, the current lack of diversity in genetic databases risks hindering the science.

There is a critical opportunity for multiple sectors to come together to ensure proper inclusion of all individuals in genetic and genomic testing, said Hutson.

Integrating Consumer Genomics into Health Care

Speakers throughout the day acknowledged the challenges around integrating consumer genomics data into clinical care. Consumers often want information fast, but health systems may not be able to quickly provide the confirmation genetic testing following a positive DTC result.

This continuum of care has a lot of access points and a lot of people trying to find pathways, but really it is reflective of the overall health system, said Siobhan Dolan, a professor and vice chair for research at Albert Einstein College of Medicine. Maybe genetics has given people an opportunity to find alternative routes and maybe we could continue to learn from that try to put something together that is continuous.

Visit http://nationalacademies.org/hmd/Activities/Research/GenomicBasedResearch/2019-OCT-29.aspx to view speaker presentations and other information about the Workshop on Exploring the Current Landscape of Consumer Genomics.

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At-Home DNA Tests Still Need the 'Human Touch,' Say Panelists at Genomics Roundtable Workshop - National Academies of Sciences, Engineering, and...

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