Genetics

Tay-Sachs disease is widely known as a genetic disorder among Jews, but a new study is exploring the risk in another group: The Irish.

Genetic testing is routine for potential parents of Jewish descent to identify the risk for the rare but fatal disorder that often kills children before their 5th birthday.

But after three recent cases of Tay-Sachs turned up in the Irish population in the Philadelphia area, it got Einstein Medical Center’s director of clinical genetics Dr. Adele Schneider wondering.

“It raised the question to me, ‘What is the carrier rate for Tay-Sachs in the Irish population?’ because we always test Jewish people for it, and never test the Irish.”

Einstein is launching a program to screen 1,000 people of with at least three of four Irish grandparents, to try to quantify the risk for Tay-Sachs.

TWO BROTHERS RIDE FROM COAST TO COAST TO SUPPORT THE JEROME LEJEUNE FOUNDATION, USA.

On June 16, Marc and Patrick Leblond will embark on an extraordinary journey that will test the utmost limits of their physical endurance, mental resilience and commitment to a cause, and they will do it for their niece, Brigid, and to raise money to support the Jerome Lejeune Foundation, USA.

As Marc Leblond says:

    “When my brother and I decided to participate in the Race Across America  we wanted to test ourselves in this ambitious challenge, but we sensed an opportunity to accomplish something much more important. Patrick and I have a 6 year-old cousin with Down syndrome. This race provides us with a powerful tool to help promote a cause that is very close to us. The Lejeune foundation, with its focus on research, care and advocacy has been instrumental in helping children like our cousin Brigid live productive and joy-filled lives. We are humbled by the opportunity to partner with them and inspire others to help make a difference in the lives of children with Down Syndrome."

Trisomy 18 is a genetic condition where a person has three copies of chromosome 18.  Trisomy 21, three copies of chromosome 21, is the genetic condition that causes Down Syndrome.  Both are caused by three copies of a chromosome, but trisomy 18 is considered to be "incompatible with life."  This is a medical term that means that most children with trisomy 18 die before or shortly after birth.

There are exceptions.  A little 2 year-old boy at my neighborhood pool has trisomy 18 and swims and plays with the best of them.  It is clear to me he is very "compatible with life."  His mother told me she was glad she didn't know he had trisomy 18 when she was pregnant because she knows the doctors would have put tremendous pressure on her to abort him.

Presidential candidate Rick Santorum's daughter Bella also has trisomy 18.  They were told she would die shortly after birth.  She is now 3 years old.  In the following video Santorum says this about Bella:

I look at the joy and I look at the simplicity and the love that she emits and its clear to me that we are the disabled ones not her.  She's got it right.  She's got a beautiful spirit.  One that emits unconditional love and we can learn a lot from that.

So far from being "incompatible with life" Bella is fully compatible with life.  A life worth emulating for its unconditional love and joy.

A recent study revealed that 99% of adults with trisomy 21 (Down Syndrome) reported being happy.  Such a statistic would never be possible in the "normal" adult population. Some would say that the world needs more of the happiness and joy of people with trisomy 18 and 21 and yet they are the ones being targeted for destruction in the womb.  So very sad.

The worst statistic that is floating around these days is the one that upwards of 90% or more of Down Syndrome children are aborted after prenatal testing.  I am convinced that this is because parents are pressured into abortion by their health care providers.  In a totally backwards world, parents are told that they are selfish and evil if they DO NOT kill their special needs child.  And with a new, early, non-invasive genetic test on the horizon, the pressure on parents will only increase.  I refer to this quote more often than I should, but I believe it is so important to understand what is being said in doctor's offices about those with Down Syndrome:

"A woman I know was told by her obstetrician that her fetus had Down syndrome.  The doctor ordered her to abort, she refused....  Another woman was similarly coerced.  Her doctor told her that her baby would be more like a fish than a human and would only be as smart as a baboon."  -- From Lori B. Andrews book The Clone Age

In the face of such discouraging numbers, I found some that are not only encouraging, but depict a more accurate picture of life with Down Syndrome.  Researchers at Children's Hospital in Boston surveyed families where a member had Down Syndrome and found that Down Syndrome is a positive.  From MSNBC.com:

The Reillys represent some of the experiences reported in three surveys conducted by doctors at Children’s Hospital in Boston that suggest the reality of Down syndrome is positive for a vast majority of parents, siblings and people with Down syndrome themselves.

Among 2,044 parents or guardians surveyed, 79 percent reported their outlook on life was more positive because of their child with Down syndrome....

Skotko also found that among siblings ages 12 and older, 97 percent expressed feelings of pride about their brother or sister with Down syndrome and 88 percent were convinced they were better people because of their sibling with Down syndrome. A third study evaluating how adults with Down syndrome felt about themselves reports 99 percent responded they were happy with their lives, 97 percent liked who they are, and 96 percent liked how they looked. [my emphasis]

So once again the culture of death distorts the truth by suggesting that parents are doing the "right thing" by killing their child with Down Syndrome before they are born.  The culture of death says, "Better dead than have Downs."  But 99% of adults with Down Syndrome report they are happy with their lives.  I doubt you would find anything close to that percentage in the "healthy" adult population.  And yet it is these happy adults that are being targeted for destruction in the womb.  How upside down is that?

Instead of calling people with Down Syndrome "baboons," I suggest doctors give the news of a Down Syndrome diagnosis with a smile saying, "There will be challenges but your child is nearly guaranteed to be a happy adult!"

And really that is the price of embracing the culture of death, of using death as a "medical treatment" - it is quite literally the elimination of happiness.

Genetic determinism is not only one of the most insidious philosophies that society has swallowed whole, but also one of the most ignorant.  Genetic determinism is everywhere.  How many times have you heard someone say, "It's in my genes.  I can't help it!"  Scientists everywhere seem to find a gene for everything from promiscuity to being a ruthless dictator.  Companies are now selling the idea that you can tell everything about your children, all of their future strengths and weaknesses, from a simple DNA test.

The premise that we are no more than the sum of the genes we inherited from our parents is not only a dangerous reduction of humanity to a simple sequence of letters, but it is outright wrong.  Wrong both morally and scientifically.  Science is quickly learning that genetics is a lot more complicated that we thought.  It is not just about what genes you have but what genes are turned on or off.  A whole branch of genetics called epigenetics is dedicated to understanding how and why genes are expressed.  It turns out the sequence of DNA is only a part of the picture.  Environment also plays a very important role.  Let me give you a very powerful example that I use all the time.  The following picture is of genetically identical mice. 

Genetically identical mice

That's right these mice are identical twins.  So what causes one to be fat and yellow and the other one to be small and brown?  One received a lot of folic acid while he was in his mother's womb.  The other did not. 

So if one small factor like a single vitamin during gestation can create such huge differences in genetically identical individuals, what could a lifetime of a millions of environmental changes effect?  What if diet, exercise, and home life are just as important to shaping a human being as genes are?  Before we fell in love with the gene as a scapegoat, we used to understand that these where important factors in molding a person.

So why are we so in love with genetic determinism?  Because it plays to our arrogance and and our laziness.  If children have inborn talents and weaknesses that cannot change, that lets every single parent off the hook doesn't it?  If I am destined to be fat because of my genes, then I really have no reason to get up off the couch do I?  And if a person is simply the sum of his genes and some of us are more successful than others, then how easy is it to believe that some of us are genetically superior to others?  It made sense to Hitler and now we, cognizant or not, are following the same path.

On that path we are led by the best and the brightest minds.  Take Julian Savulescu for example.  He is chair of the Oxford Center for practical ethics at the University of Oxford and he believes that we should choose the best children just by looking at the sequence of their DNA while they are embryos:

Third, we have a moral obligation to use these technologies to have children who have the best prospects of the best life. I have called this "procreative beneficence." This includes not only selecting against genes that cause disease, even minor disease, but also selecting against those genes which dispose, even weakly, to significant impediments to wellbeing, like poor impulse control or lack of empathy. After all, if we face the choice of bringing into existence one of two embryos, and our evidence shows that one of them is likely to have a better life, what possible reason could we have for choosing the other, or tossing the coin of the natural lottery? Rather than responding to irrational fears about designer babies, we should be encouraging people to use technology to have children with the best prospects of the best life.

Dr. Savulescu is by no means the only brain in an ivory tower suggesting we make sure only the "genetically fit" are born.  Brains with enough arrogance to think we even know how to define "genetically fit."  I could go on all day listing the names of academics (and Nazi dictators) who have fallen in the genetic determinism trap. 

Whether it is your neighbor or some Ph.D. from Oxford, just remember the picture of the mice above every time someone suggests that it is the sequence of your DNA that defines you. 

What is Rh disease?  It is a severe form of anemia that is caused by a mother's immune system attacking a fetus.  We are all either Rh positive or Rh negative.  Rh is a factor on our red blood cells.  If you are Rh positive you have the factor.  If you are Rh negative you do not.  The problem comes when a Rh negative woman and an Rh positive man make an Rh positive child. During delivery, mom can be exposed to the baby's Rh positive blood.  If this happens she will make antibodies against the Rh factor.  While the first pregnancy with a Rh positive child is fine, any subsequent pregnancies with an Rh positive baby for a mother with Rh antibodies can be fatal to the baby.  The mom's Rh antibodies find the Rh positive red blood cells of the baby and attack.  This causes mild to severe anemia in the baby and can cause stillbirth.

Up until the Rh factor was discovered in 1937, millions of women would miscarry their second, third, fourth (and so on) pregnancies.  But now that we know an injection of anti-Rh antibodies can prevent a woman from producing her own antibodies to Rh factor.  This is the RhoGAM injection that Rh negative mothers like me get before and after birth to prevent our immune systems from becoming sensitized to the Rh factor.

Without RhoGAM and other anti-Rh injections, millions of babies may not have survived gestation.  But where do the anti-Rh antibodies come from?  They come from generous donation of plasma from Rh negative people who have been exposed to Rh positive blood.  These people have the anti-Rh antibodies and donate their plasma to make products like RhoGAM.

Lately, the news has picked up on the heroes that donate their plasma.  I want to highlight and thank them for their selfless donations.  Some of these unsung heroes are women who developed Rh sensitivity and lost babies to stillbirth. They donate so other women never have to experience their loss.  From The Daily Mail:

An Australian man who has been donating his extremely rare kind of blood for 56 years has saved the lives of more than two million babies.

James Harrison, 74, has an antibody in his plasma that stops babies dying from Rhesus disease, a form of severe anaemia.

He has enabled countless mothers to give birth to healthy babies, including his own daughter, Tracey, who had a healthy son thanks to her father's blood.

Mr Harrison has been giving blood every few weeks since he was 18 years old and has now racked up a total of 984 donations.

When he started donating, his blood was deemed so special his life was insured for one million Australian dollars.

And from USA Today:

Between them, Marilyn McCarthy and Elizabeth Pascoe may have saved tens of thousands of babies over the years....

McCarthy, 72, and Pascoe, 68, don't want other pregnant women to go through what they did to build their families. So for 25 years and 30 years, respectively, the women have traveled twice a week from their Buffalo homes to a nearby lab to donate plasma, the key ingredient for a product called RhoGAM.

Before RhoGAM's debut 40 years ago, nearly 10,000 U.S. babies died of HDN each year because their mothers were Rh-negative and they weren't. Four of those babies were McCarthy's.

McCarthy delivered her firstborn in 1956, her second in 1957. "Our first two were perfectly fine," McCarthy says. "Back then, we weren't aware of the problems with Rh. We just knew some babies had to be transfused after they were born."

But in 1959 and in 1961, after the drugs she had received in labor wore off, McCarthy awoke to hear her doctor tell her husband that their sons were stillborn, and a third son was stillborn in 1963. In 1965, her next child, a girl, survived after getting six blood transfusions while still in the womb and two more after birth....

After her daughter's birth, McCarthy shared a hospital room with another Rh-negative mother, Pascoe, and, McCarthy says, "we've been friends ever since."

Pascoe's first pregnancy was uneventful, but with her second, blood tests sounded an alarm in the sixth month. "Your body is attacking your baby," her doctor said, warning that she could lose the child. Says Pascoe: "I can't tell you what that did to me."

Apparently, RhoGAM contains enough Rh antibodies to trick the mother's immune system into not attacking her fetus's Rh-positive red blood cells. At first, plasma used to make RhoGAM came from women like McCarthy and Pascoe, whose blood contained Rh antibodies because they'd carried Rh-positive babies....

There's no way, however, to reproduce the personal connection that donors like McCarthy and Pascoe have. "I think we're all put on this Earth for a reason," Pascoe says, "and I think my reason is to give back."

Thank you to all who donate their plasma to help save babies from Rh disease.  There are no words that I can use to express my gratitude.  All I can do is post a picture of my beautiful children, some of whom are alive because of your generosity.

Certainly another instance from history that should give pause in society's quest for genetic perfection.  It is dangerous and wrong to reduce an individual to a simple genetic defect.  The genetic lottery should never be a criteria for whether a fetus gets to live or die. 

Imagine all of the King Tuts, or according to this website, Damon Wayans, Troy Aikins, Mia Hamms and Kristi Yamaguchis (all born with club foot) that will never see the light of day.

STR data

The problem comes from the fact that most DNA from a crime scene is not perfect.  It can be degraded or mixed with DNA from other individuals.  Sometimes labs can only match 9 loci to the DNA found at a crime scene. 

Scientists are starting to question this assumption that 10-13 loci are enough to rule out the possibility of a random match to DNA other than the suspect.  In other words, if 10-13 loci are not enough to make a definitive barcode, then a 10-13 loci DNA profile can actually match more than one individual.  According New Scientist, a recent look into the possibility of random matches produced some serious results:

The first clue that something might be amiss came in 2005, when limited data was released from the Arizona state database, a small part of CODIS. An analyst who compared every profile with every other profile in the database found that, of 65,493 profiles, 122 pairs of profiles matched at nine out of 13 loci and 20 pairs matched at 10 loci, while one pair matched at 11 loci and one more pair matched at 12 loci. "It surprised a lot of people," says signatory Bill Thompson of UCI. "It had been common for experts to testify that a nine-locus match is tantamount to a unique identification."

So in a sample of 65,000 profiles, 122 profiles matched at 9 loci, 20 profiles matched at 10 loci, and 1 profile matched at both 11 and 12 loci.  According to Bill Thompson, experts have testified that 9 loci is enough for a unique profile.  This comparison calls into question the assumption that 9-13 loci are enough to definitively match a suspect's DNA to that found at a crime scene.

As a result, researchers want access to CODIS, US national DNA database, and its 7 million DNA profiles to test whether 10-13 loci are enough to rule out random matches or if more loci are needed for a definitive match.  In a letter to Science magazine, 41 research scientists, forensic scientists, statisticians and legal scholars called for the FBI to give them access to the profiles in CODIS stripped of identifying information like name and date of birth so they can test previous assumptions and study how DNA profiles differ by geographic region and by race.

For now the FBI has not granted access to CODIS citing genetic privacy as the reason:

Director of the FBI Laboratory, Christian Hassell, says he appreciates the concerns the Science letter raises. "We are exploring ways to investigate some of the topics," he adds. But he has turned down the request for access, citing concerns about genetic privacy.

I am very interested to see what comes of this request if anything.  I worked briefly with similar technology to see how well we could identify maternal DNA contamination in amniotic fluid.  If 10 loci are not enough for a definitive match, and more like 13 or above are needed, this could be a huge problem for forensics and for courts all over.

From the BBC:

A bone fragment believed to be part of Adolf Hitler's skull has been revealed as being that of an unidentified woman, US scientists have said.

The section of bone - marked with a bullet hole - was used to support the theory that Hitler shot himself.

Russian scientists said the skull piece was found alongside Hitler's jawbone and had put it on display in Moscow.

But US scientists said DNA tests revealed it actually belonged to a woman aged between 20 and 40.

An archaeologist from the University of Connecticut travelled to Moscow, where the fragment has been on show in the city's federal archive since 2000, to take a sample.

From Jack Smith at The Catholic Key:

One of the first things that popped out at me when I moved to Kansas City from San Francisco was the presence of Down Syndrome kids. You don’t see hardly any in San Francisco. Here in the heartland they are welcomed and loved in schools and communities and most importantly, born.

Here’s the story behind the video below which ran on the local news tonight, as explained by Matt Ziesel’s family:

Freshman Matt Ziesel scores a touchdown against Maryville. Below is a little write-up from the Ziesel family for those of you not familiar with Matt: Matt is a special athlete who has Down Syndrome. He loves football and has grown up in an environment surrounded by sports. His father is a coach/ athletic director, and all his siblings play sports. He grew up at athletic events, and has always been a cheerleader. He registered as a freshman at Benton High School -Saint Joseph, MO this year, and told his mother and father he wanted to play football. The team takes good care of looking after Matt, and he is still the cheerleader on the sidelines. He puts his pads and helmet on, stands next to Coach McCamy and waits for his turn to play. Over and over during the course of the game Matt will say, "Coach McCamy, I am ready! I am ready Coach!" On this Monday night coach gave him a chance. The Cardinals were down by a few touchdowns with 15 seconds left. Coach McCamy called a timeout and asked the coach of Maryville High School if they could run their "Matt Play". He agreed and this is where the video begins. Thanks to Coach McCamy and the freshman coach at Maryville, Matt and his family will cherish his moment forever!

- Sincerely The Ziesel Family

And here’s the video:

Here is the audio:

I will be on the Son Rise Morning Show with Dan Patrick on Thursday morning at around 8:50 am EST discussing the Genetic Information Nondiscrimination Act of 2008 or GINA that went into effect this month.  GINA prohibits insurance companies and employers from discriminating against otherwise healthy people because of a genetic mutation that increases risk of disease.

GINA is in keeping with Catholic teaching on genetic discrimination.  In this address, Pope Benedict XVI said the following:

"Every human being, therefore, is much more than the singular combination of genetic information that is transmitted to him by parents."

...every person has equal dignity by virtue of being alive, and that his "biological, psychic and cultural development or state of health can never become a discriminatory element."

"Any discrimination carried out by any power against persons, populations or ethnic groups on the basis of real or presumed genetic factors is an attack against all humanity."

For more information about what GINA does and does not do visit Genetic Information Nondiscrimination Act of 2008.

That is exactly the fear of Ari Ne'e-man.  In this Newsweek piece titled "Erasing Autism," Ari Ne'e-man, who has Asperger Syndrome, voices his fear:

But the new genetic advances concern Ne'eman. He doesn't believe autism can be, or should be, cured. His ultimate fear is this: a prenatal test for autism, leading to "eugenic elimination." If a test is developed one day, it will be used, he says. And that means people like him might cease to exist.

When I press Ne'eman on genetic research—doesn't it have some merit?—he says he doesn't oppose it outright, but he believes scientists must consider the ethical implications of their work far more carefully. Already couples are testing embryos for diseases like Huntington's, then choosing to implant only the healthy ones. And who can blame them? But autism isn't a fatal condition. Should people without the disorder be allowed to judge the quality of life of someone who has it? "That is a message that the world doesn't want us here," says Ne'eman, "and it devalues our lives."

The genetics is not the problem here.  The problem is a society that likes to throw the baby out with the dirty genetic bathwater.  Ne'eman should not have to fear genetic research.  But because our society embraces death as a legitimate medical treatment, he, like many others, sees every piece of genetic information as a new way to eliminate those who are "genetically defective." 

The article is titled "Erasing Autism."  But what Ne'eman astutely sees is a society that will happily commence "Erasing [those with] Autism" instead.

For all you philosophy junkies out there.  (Are there any left I wonder?)  Thomas Aquinas would have loved genetics by Thomas Jackson:

by Carlo Crivelli

Most of all, though, Aquinas would have been entranced by the idea of genes. If ever there were an Aristotle-friendly idea this is it. Genes illustrate both of Aristotle's two fundamental principles. One is that immaterial forms do not exist in some nebulous heaven, as Plato thought, but are embedded in material things themselves. This is exactly what we find in genes. The essence of genes is that they encode information. But you can't encode bits of stuff, only ideas. At the heart of the material we find the immaterial. Aristotle's other big idea is act and potency. Everything is potentially the something else that it is already ordained to be. Bronze becomes statues, not primroses, live humans become dead ones, not alarm clocks. The whole essence of genes is that they are potentially the actual things that they already in some essential sense are. Genes are potentially phenotypes and phenotypes are activated genes.

I found this letter to Doc Gurley yesterday:

Dear Doc,

Maybe you can give me some advice. My daughter, a healthy, non-smoking, non-obese 26-year-old has been denied insurance through Kaiser and Pacific Care because she carries one gene for Factor 5 Leiden, a genetic clotting disorder.

She has never had problems with clotting and only got tested for it because I was diagnosed with it after a blood clot and wanted all of my children tested. Knowing allowed her to get off birth control pills which would have increased her risk of a clot dramatically and she takes extra precautions while flying.

By knowing she has this genetic mutation she has actually lowered her health risk - but the girl can't get health insurance!!! We have appealed to both and have been denied again!

Signed, Daughter Denied Because Of DNA

National Human Genome Research Institute

The problem with genetic tests like this is that they only tell you of an increased risk of developing health problems.  Having the Factor V Leiden mutation only means you have an increased risk of blood clots, it does not mean that you will definitely develop them.  There are people out there who are perfectly healthy that have no idea they carry a genetic predisposition to disease.

It is outrageous that an insurance company would deny an otherwise healthy young woman health coverage simply because she might develop a blood clot.  Well, they cannot anymore.  According to Doc Gurley, GINA is now in the house:

But Dina, I have great news for you! Right now, this month, in May of 2009, the Genetic Information Nondiscrimination Act of 2008, signed by President Bush, goes into effect, nationwide.

The Genetic Information Nondiscrimination Act of 2008, also known as GINA, prohibits employers and insurance companies from discriminating against otherwise healthy individuals because of a genetic predisposition to disease.  So if you have ever been denied coverage because of some genetic test result, and you are otherwise healthy: now is the time to call up those insurance companies and ask.  They won't be calling you.  As Doc Gurley writes:

Despite all the promises of healthcare industry change ("no, really, baby, honey, I'll never hit you like that again...I was drunk on profit, I swear, I won't touch the stuff - it's just you and me from here on out..."), there's no insurance company sending out engraved invitations, asking you to re-apply. I also don't see any massive media campaign to let you know you have new rights. Spread the word - it's time for all good readers out there to take stock of their own situation - were you barred from healthcare coverage for similar reasons? Now's the time to call again - you may find a dramatically different response than you got a year ago...

Bottom line: Dina, you've got yourself a GINA. Now use it.

You are probably not aware that about 25% of all human genes are patented.  This means that a company or university owns the genetic code that makes up that gene.  They own genes that you have and use in your body everyday.

You also may not be aware that the patenting of your genes affects you directly. Because a company legal "owns" a gene sequence, they control who is able to test that gene or research that gene.  In the case of genetic testing, labs are limited on what genes they can offer tests for because of gene patents, which limits the choices they can offer patients. Labs that are allowed to test a patented gene pay royalties to the companies that own the genes which drives up the cost of the genetic test.

In the case of some genes like the breast cancer genes BRCA I and BRCA II, one company, Myriad, owns the gene and only Myriad offers the test for variations that signal a high risk of breast or ovarian cancer.  This means that if a patient wants a second test run by another company to confirm the test result and test interpretation before they have radical surgery, they are out of luck.  Many women simply cannot afford the $3000 test that could give them the information to save their life.  And because of gene patents, they cannot go anywhere else.

I once got a call from a frantic father whose daughter was diagnosed with Long QT.  They were faced with putting their 4 year-old little girl on serious medication and fitting her with a pace maker because of some genetic testing results.  They wanted a second opinion, but one lab in the United States owned the patent and only they offered the test.  

This is an outrage.  I know first hand that depending on the design of the test, different labs can have different results in molecular genetic testing.  I personally spent weeks trying to figure out why we got a different result than another hospital on a patient and discovered that because our tests were designed differently, we got different results.  And this was by no means the only time something like that happened.  I quickly discovered that in genetics, sometimes the answer you get, depends on the question you ask.

The ability to establish the genetic map should not lead to reducing the subject to his genetic inheritance and to the alterations that can be made to it. In his mystery, man goes beyond the sum of his biological characteristics. He is a fundamental unit, in which the biological cannot be separated from the spiritual, family and social dimensions without incurring the serious risk of suppressing the person's very nature and making him a mere object of analysis. By his nature and uniqueness, the human person is the norm for all scientific research. "He is and he ought to be the beginning, the subject and the object..." of all research (Second Vatican Council, Gaudium et spes, n. 25).

On this subject, we rejoice that numerous researchers have refused to allow discoveries made about the genome to be patented. Since the human body is not an object that can be disposed of at will, the results of research should be made available to the whole scientific community and cannot be the property of a small group.

I believe that I am interpreting John Paull II correctly by saying that is unethical to patent a naturally occurring gene.  Patents can be awarded for inventions, like novel approaches to testing or manipulating the gene, but not for the gene itself.

This week the ACLU has announced they are going after gene patents.  From Liberate the Breast Cancer Gene:

The American Civil Liberties Union filed a lawsuit Tuesday charging that human genes by law cannot be patented and that such patents violate the First Amendment. The gene patents impede clinical testing and research. An ACLU-produced video released today lays out the case by telling the stories of researchers, clinicians and individual women negatively affected by the patents.

Here is the video.

Randy Jirtle/Duke U
Adding folic acid to the diet of pregnant mice alters the offspring’s gene expression. Despite their appearances, the two mice are genetically identical.

What is most intriguing is that there is clear evidence that changes in gene expression start in the womb.  In his piece, Genes Take a Back Seat, Ivan Amato discusses a study looking at the 60 year-olds that were fetuses during the Dutch Hunger Winter, a Nazi imposed famine during World War II.  Researchers found that 60 year-olds who were exposed to famine while in the womb had decreased methylation, a way in which gene expression is controlled, compared to their contemporaries who were not.

Genes are not everything.  The environment you are exposed to from the moment you are conceived has an impact on your genes and how they are expressed:

"WE HAVE BEEN BLINDED,” says molecular and human geneticist Arthur L. Beaudet of Baylor College of Medicine, in Houston. Genes are crucial parts of the story, but it’s the epigenetic program that determines their activity, says Beaudet, who scours the chromosomal landscapes in brain cells from cadavers for epigenetic markings—perhaps ones acquired during gestation—that influence genetic programs associated with autism and schizophrenia.  [my emphasis]

For a growing number of scientists, genes are getting downright blasé.  ...with so much of the genetic lettering the same between any two human beings, it has to be the orchestration of the activity or silence of the genes that makes up much of our personal differences.

And the environment you were exposed to in the womb, does not just have an impact on you, but also on your children:

What’s more, all of this epigenetic signage, which does nothing to any gene’s signature sequence of nucleotides, is heritable, at least to a degree. In development, this is the type of heritability that ensures, for example, that liver cells beget only liver cells and not brain cells once in a while. It is a form of cellular memory. And evidence is mounting that epigenetic markings on egg or sperm cells and those acquired as a result of some sort of toxic exposure or hardship can be inherited for several generations, Jirtle says. This means that how well your mother ate and whether your father smoked when you were conceived could affect the health of your own children.  [my emphasis]

Evidence of epigenetic changes that occur in the womb naturally beg the question: Does this not mean that embryos and fetuses are more than just blobs of amorphous tissue?  Clearly this evidence confirms what we all know instinctively, that we are distinct continuous organisms from the moment we are conceived to the day we die.  If we are not, how could something our grandmother does while she is pregnant with our mother possibly affect our genetics?

Epigenetics excites me for many reasons not just because it gives us a peek into the womb and gives a voice to the life that grows there.  It counteracts the genetic fatalism that seems to be slowly creeping into our subconscious. Our society erroneously thinks that if something is encoded into our DNA that we are destined to live out that sequence of nucleotides.  Amato points out:

The epigenetic stratum of molecular biology they now are excavating might sweep away the fatalism that comes with the traditional, gene-centric way of thinking.

Many a child has been aborted because of this "gene-centric way of thinking."  Epigenetics will hopefully replace this genetic fatalism and give us all hope that we are not just sequences of As, Cs, Gs, and Ts.

By modifying the properties of the common antibiotic gentamicin, researchers at the Technion-Israel Institute of Technology have developed what could become an effective treatment for many human genetic diseases, including cystic fibrosis (CF), Duchenne muscular dystrophy, Usher Syndrome and numerous cancers. The findings were published online March 23rd by the Journal of Medicinal Chemistry.

Gentamicin belongs to a class of antibiotics called aminoglycosides, which are used to treat a wide range of bacterial infections. Studies have shown that gentamicin can counteract genetic diseases, including those mentioned above that occur when mutations cause disruptions of the development processes of proteins. The drug enables ribosomes (the structures within a cell that carry out protein synthesis) to ignore these disruptions and instead generate healthy, full-length functional proteins.

But using gentamicin to treat these diseases requires much higher doses than those commonly prescribed for bacterial infections. At these higher doses gentamicin is non-selective and extremely toxic to humans, with irreversible hearing loss (ototoxicity) being the main negative consequence.

In search of a way to bypass these complications, the team led by Professor Timor Baasov of the Technion Faculty of Chemistry modified existing aminoglycoside antibiotic drugs, and carefully monitored biological and toxicity tests of the resulting derivatives. The result is “NB54,” a new (and patented) chemical derivative of gentamicin.

“We’ve created a new purpose for aminoglycosides by removing their traditional, natural actions as antibiotics,” said Baasov. “The loss of their antibacterial activity makes them highly selective, less toxic, and allows for their use in repairing ‘wrong’ genes in human beings.”

So far, the researchers have observed the action of NB54 in ex vivo cell lines. They are currently awaiting data from animal model testing.

This approach is very promising.  Unfortunately, babies diagnosed with CF or DMD in utero and then aborted will never see this treatment.  Neither will the embryos in IVF clinics screened with preimplantation genetic diagnosis (PGD) that are considered "genetically defective" and then thrown out.

That is the real tragedy of eugenic abortion and PGD.  They are based on the flawed assumption that if there is no treatment now, there never will be.  They require that the baby be thrown out with the bathwater when it is likely that a cure for dirty bathwater is around the corner.

I do not think I can say it enough, so I will say it again.  Preimplantation genetic diagnosis and eugenic abortion DO NOT ELIMINATE genetic disease.  They simply make sure the people who have genetic disease are never born.  They are not medicine.  Medicine focuses on curing the disease, not getting rid of the patient.  At least it should.