Daily Archives: February 14, 2017

A cloned human embryo is seen in this file photo. Centre for Life File

Right now, such genetic manipulation of human embryos isn't known to be possible, and no one could do it in the U.S. The Food and Drug Administration would have to approve it and is barred by Congress from using its funding to consider anything that involved changing a human embryo.

It might be possible down the road, and labs in other countries might do it, the committee said in its

And if someone finds a way to prevent disease using these techniques, there would be a clamor for it to be made available.

"However, genome editing to enhance traits or abilities beyond ordinary health raises concerns about whether the benefits can outweigh the risks, and about fairness if available only to some people," said Alta Charo, a bioethicist at the University of Wisconsin who helped chair the panel.

Gene therapy is still experimental. The idea is to treat genetic disease by replacing faulty genes with healthy ones. But the technique is imprecise.

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Gene editing is a big step up from simple gene therapy. New techniques, such as one called CRISPR, allow scientists to precisely alter genes in a much more controlled way than before, offering the possibility that embryos could be changed not only to prevent the development of genetic diseases, but to prevent any resulting children from passing harmful traits to their own offspring.

In 2015, Chinese scientists

One obvious question is whether labs might try to offer parents babies that are prettier, smarter or stronger than the genetic lottery would otherwise allow them to be. It's not so easy: even eye color is not controlled by a single gene or even a few genes, and there are no known genes for intelligence.

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But a genetic disease such as muscular dystrophy is caused by easily measured genetic mutations, and it's possible that finding a genetic cure for MD might lead to ways to make healthy babies more muscular, the panel said.

"And using the technology to increase someone's muscle strength to the extreme end of human capacity (or beyond) would almost certainly be considered enhancement," the report reads.

That's when people might need to start thinking about how far is too far to go in improving children.

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Tests for so-called germline editing for people would be ethically acceptable if there were no reasonable alternatives; if it was being done to prevent a serious disease or condition and if the genes being changed were clearly shown to cause the condition, the panel recommended.

Any change should resemble naturally occurring genetic sequences, not introduce some exotic change to DNA, the panel added. Data should be openly shared and there should be oversight, it added.

Some of the better known genetic diseases include muscular dystrophy, cystic fibrosis and the premature aging disease progeria, but there are dozens more.

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Edited DNA OK for Health, But Not Designer Babies, Panel Says - NBCNews.com

For a decade, Art and Lois Serrin have desperately sought the identity of the man they found having sex with their daughter moments before discovering her lifeless body.

Now, innovative DNA technology may have finally revealed his face, officials said Tuesday.

Jodine Serrin, a 39-year-old Carlsbad woman with developmental disabilities, was found beaten and strangledin her condominiumon Feb. 14, 2007.DNA evidence collected from the bedroom where she was found was analyzed numerous times over the years, but it never led to a suspect.

Recently, detectives on the case submitted that DNA to Parabon NanoLabs,which has developed a test that transforms genetic material into a digital image of an unknown suspect.

Investigators believe its the first time the technology has been used in San Diego County, and called it a game changer for unsolved cases especially ones that have gone cold, like Jodine Serrins death.

Carlsbad police Chief Neil Gallucci said any tool that gets detectives one step closer to catching and prosecuting a suspect is a worthwhile investment.

"To create a profile that someone out there recognizes, that sparks even one phone call that helps our detectives thats an awesome possibility, he said.

The process, called phenotyping, uses DNA to predict a suspects skin color, eye color, hair color, gender, ancestry and face shape. It can even determine if someone has freckles or not.

According to the analysis, the man who killed Serrin has very fair to fair skin, green or blue eyes, blonde or brown hair and some freckles. He is likely in his 40s and of Northern European descent.

Using information from Jodine Serrins father, who may have caught a glimpse of the killer that Valentines Day night,police also believe the suspect is heavyset with a fat stomach and disheveled hair. He is between 5 feet 8 inches and 6 feet tall and likely has a history of mental health issues.

We believe the suspect was an acquaintance of, or had just met the victim, said Tony Johnson, an investigator with the San Diego District Attorneys Office.We believe there are friends of Jodine who will recognize the composite, and we urge them to call us.

Officials released the suspects imageon Tuesday, the 10th anniversary of Serrins death, and asked anyone with information to call (760) 931-2225. Her parents said the image has given them hope that their daughters murderer may one day be brought to justice.

We feel that somehow, somewhere hes out there and somebody knows something whatever that might be, it will help, said Art Serrin.Its been toughwaiting. Ten years is a long time.

Usually on the anniversary of their daughters death, the Carlsbad couple gets out of town to insulate themselves from anything that might remind them of that horrific day.

It was Valentines Day 2007. The parentswere celebrating the holiday at the movies, but Lois Serrin couldnt shake the feeling that something was wrong.

Although Jodine had lived independently for 15 years, she had mental disabilities that called for extra care. It was very unusual to go a day without hearing from her, and they hadnt spoken since the night before.

They left the theater before the movie was done and went to their daughters condominium on Swallow Lane. When they unlocked the door, a chainlock was in place. They called out to her, but there was no answer. Thats when Art Serrin kicked open the door.

The parents rushed in, and stumbled on their daughter apparently having sex with aman who looked vaguely familiar.Startled, they went to another part of the residence to wait, but their daughternever emerged.

When they peeked in on her again, she was dead and the man was gone.

Since then, the couple has partnered with police to solve the case.

They created a website where people could learn of the case and submit information. With help from the Governors Office, a reward of $52,000 was put together for anyone who provides information that leads to an arrest.

The couple is holding out hope that the new image will finally lead to their daughters killer.

We need to get this monster out of the woodwork and off the street, Art Serrin said. Thats whats kept me and my wife going.

Twitter: @LAWinkley

(619) 293-1546

lyndsay.winkley@sduniontribune.com

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DNA technology gives new face to decade-old cold case - The San Diego Union-Tribune

The researchers' findings suggest that DNA variations linked to Type 2 diabetes interfere with the ability of Regulatory Factor X to bind to a "runway" of DNA before the start of various genes, and therefore with its ability to do its job in the reading of those genes.ANN ARBORWhy do some people get type 2 diabetes, while others who live the same lifestyle never do?

For decades, scientists have tried to solve this mysteryand have found more than 80 tiny DNA differences that seem to raise the risk of the disease in some people, or protect others from the damagingly high levels of blood sugar that are its hallmark.

But no one "type 2 diabetes signature" has emerged from this search.

Now, a team of scientists has reported a discovery that might explain how multiple genetic flaws can lead to the same disease. They've identified something that some of those diabetes-linked genetic defects have in common: they seem to change the way certain cells in the pancreas "read" their genes.

The discovery could eventually help lead to more personalized treatments for diabetes. But for now, it's the first demonstration that many type 2 diabetes-linked DNA changes have to do with the same DNA-reading molecule. Called Regulatory Factor X, or RFX, it's a master regulator for a number of genes.

The team reporting the findings in a new paper in the Proceedings of the National Academy of Sciences comes from the University of Michigan, National Institutes of Health, Jackson Laboratory for Genomic Medicine, University of North Carolina and University of Southern California.

They report that many diabetes-linked DNA changes affect the ability of RFX to bind to specific locations in the genomes of pancreas cell clusters called islets. And that in turn changes the cells' ability to carry out important functions.

Islets contain the cells that make hormones, including insulin and glucagon, which keep blood sugar balanced in healthy people. In people with diabetes, that regulation goes awryleading to a range of health problems that can develop over many years.

"We have found that many of the subtle DNA spelling differences that increase risk of type 2 diabetes appear to disrupt a common regulatory grammar in islet cells," said Stephen Parker, assistant professor of computational medicine and bioinformatics, and of human genetics, at the U-M Medical School. "RFX is probably unable to read the misspelled words, and this disruption of regulatory grammar plays a significant role in the genetic risk of type 2 diabetes."

Parker is one of four co-senior authors on the study, which also includes Michael Boehnke of the U-M School of Public Health's Department of Biostatistics; Francis Collins, director of the National Institutes of Health; and Michael Stitzel of the Jackson Laboratory.

Prior to their current faculty positions Parker and Stitzel worked in Collins' lab at the National Human Genome Research Institute. Parker's graduate student, Arushi Varshney, is one of the study's co-first authors with Laura Scott and Ryan Welch of the U-M School of Public Health's Department of Biostatistics and Michael Erdos of the National Human Genome Research Institute.

They performed an extensive examination of DNA from islet samples isolated from 112 people. They characterized differences not just in DNA sequences, but also in the way DNA was packaged and modified by epigenetic factors, and the levels of gene expression products that indicated how often the genes had been read and transcribed.

This allowed them to track the "footprints" that RFX and other transcription factors leave on packaged DNA after they have done their job.

RFX and other factors don't bind directly to the part of a gene that encodes a protein that does a cellular job. Rather, they bind to a stretch of DNA near the genea runway of sorts. But when genetic changes linked to type 2 diabetes are present, that runway gets disrupted, and RFX can't bind as it should.

Each DNA change might alter this binding in a different way, leading to a slightly different effect on type 2 diabetes risk or blood sugar regulation. But the common factor for many of these changes was its effect on the area where RFX is predicted to bind, in the cells of pancreatic islets.

So, says Parker, this shows how the genomethe actual sequence of DNAcan influence the epigenome, or the factors that influence gene expression.

The researchers note that a deadly form of diabetes seen in a handful of babies born each year may be related to RFX mutations. That condition, called Mitchell-Riley syndrome, involves neonatal diabetes and malformed pancreas, and is known to be caused by a rare autosomal recessive mutation of one form of RFX.

In addition to co-senior and co-first authors listed above, the study's authors include a range of researchers from several institutions. The study was funded by the National Institutes of Health.

Parker is a 2014 recipient of the American Diabetes Association's Pathway to Stop Diabetes grant, a type of grant awarded annually by the American Diabetes Association to provide up to $1.625 million to each scientist over a five- to seven-year grant term to spur breakthroughs in clinical science, technology, diabetes care and potential cures. Since launching in 2013, Pathway has awarded more than $36 million to 23 leading scientists.

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Diabetes in your DNA? Scientists zero in on the genetic signature of risk - U of M News Service

We have all seen those advertisements on television. Spit here, scrape there and send the samples in to have your DNA analyzed.

But what really happens? What can you really learn?

There are a variety of tests available and each company has its merits. The company you choose will probably be determined by what you want to learn.

It may sound unfair but only men can have their yDNA studied, which will follow their male line from their father through his father through his father and so forth. Simply put, fathers pass the yDNA only to their sons, which makes them boys. This can follow family name, but not always.

People changed last names more often in past human history than they do now in this computer age. They changed spellings because they couldnt spell or they wanted to seem more English to blend in. There were adoptions, rapes, plagues, invasions and affairs. Children were orphaned, abandoned, kidnapped and rescued. There were indentures, slavery and people running away from their past. This was life then and our history. Dont be upset if you cannot follow a name very far. Just assume it was for a good purpose and move on.

In the yDNA test you can opt to have a 12, 25, 37, 64, or 111 marker test. Yep, each tiny yDNA has that many unique parts. Since 12 wasnt as specific as most people need, we opted to order the 37 marker test, which I recommend. We knew we could always upgrade if we wanted to later on.

If women want to follow their fathers yDNA, they will need to ask their brother, father, uncle or cousin with the same grandpa to take the test for them.

Men or women can have the mitochondrial DNA test which follows the line of their mothers mothers mother, etc. This changes family name every generation and is very difficult to follow, but you will learn regional origin for your motherly line.

One company will tell you if you are a carrier of genetic variances or of other health related issues. This group also claims to be able to predict things like lactose intolerance or baldness.

Most companies offer a general DNA study that gives an overall view. It is technically called autosomal DNA. This test determines your ancestors origins by percentage. Some of the tests divide this up by countries. Others are more general. If you want to know your Irish or Scots percentage see how these areas are reported by a company. Sometimes it just comes out as British Isles. You also need to remember that the borders of today are most likely not the borders of 300 years ago.

Research which test company is best for your needs. There are some great comparison sites online. Just do an online search or ask at the library for some articles on the subject.

My husband was the perfect test subject for the yDNA test. His father to son line had been in Ohio since 1836, and was solidly documented. We knew nothing of his paternal line before that.

We sent in his DNA sample with the name of the oldest man on his fathers male line, Gershom Cottrell, and waited.

First thing we learned is that the processing never goes as fast as you wish it would. In fact that month or six weeks or two month wait does not begin until they receive it and log the sample into their laboratory.

We have a good friend, a retired pathologist, who says the clinical crime shows on television drive him crazy. He blames these shows for misleading the public to believe that DNA can be analyzed instantaneously. Trust me, it takes awhile. Be patient. And if the lab is busy, it might take even longer.

Meanwhile, all the companies have either information-filled websites or literature you can request. Do yourself a favor. Read the basic stuff. Read the commonly asked questions. Look at the examples. Get familiar with the terms while you wait.

Then finally one day we got a message that the results were in and logged into the website.

Wow. We were amazed at how many relatives there were and, as predicted, how few had the same last name. There was obviously a lot of life going on in the family history way back then.

Since the company we chose included contact information for emails we planned on reaching out to the Cottrels on the list. However before we could, we got an email from New Jersey. It was Cousin Bob.

Turns out the Cottrells in New Jersey have an extra L at the end of their names and a very nice complicated tree with one dead end written in pencil. Gershom moved to Ohio 1836. For them my husband was the missing link.

Bob mailed us a copy of the tree. It covered our dining room table. We looked at the spot where we fit in and followed it up to Newport, Rhode Island, where my hubbys ancestor Nicholas Cottrell was one of the original settlers not long after the Pilgrims arrived.

Of course we had to take a trip to visit with our New Jersey cousins, Bob and Pat, and they showed us where the Cottrells had lived since 1700. Funny thing was they had the same canister set on their kitchen counter as we did. What were the odds of that? We hope to visit the family historical sites in Newport someday.

Now this is the dream come true for genetic genealogists, but it is the rare acorn. My husbands yDNA test results were like finding the golden ticket in a Willy Wonka bar. Most people just get the chocolate.

When the results get in you dont get a carefully designed scrap book like in some of those family history television programs. The test results are just the beginning of the process. Sometimes it sheds light, sometimes you connect with other researchers, and sometimes it is just downright frustrating like my Dads yDNA study, which I will tell you about later.

Next week, Ill let you know how some of our western Clark County neighbors have done with this new form of family research. Cannot wait to write more on this subject.

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Cottrel: DNA test results a golden ticket for family history - Springfield News Sun