Researchers Edge Closer To Cure for Down Syndrome

Tags: Down Syndrome, Medicine, DNA, Research, Cure, Myriad Genetics, Supreme Court, W Ned Livingston

W Ned Livingston by W Ned Livingston

One need not cite references or statistics to claim authoritatively that caring for a special needs child is hard, regardless of how loved that child may be. Often, it becomes heartbreaking, when a loved one born with Down Syndrome becomes too big, and aggressive—with no conscious knowledge of the harm he or she is doing—and must be placed in a facility equipped to “deal with” such individuals. Suddenly, that person who had been the center of the caregiver's world is gone, with no way of knowing what sort of daily care the “forever child” is getting.

 And that does not even begin to explore the tragedy of the life of a child with Down Syndrome. Granted, there are many cases, less extreme, where the affected people have gone on to live something resembling nearly “normal” lives. Regardless of the relative mental capacity, however, Down Syndrome is a core genetic condition that carries wide-ranging health issues as well as cognitive limitations, so regardless of the individual's mental state, he or she will physically deteriorate at an accelerated pace. Not an encouraging outlook from any perspective.

Jeanne B Lawrence PHD,
Department Chair of Cell and Developmental Biology,
University of Massachusetts Medical School

 On July 17, 2013, according to various reports, Jeanne Lawrence, a cell biologist, and her team at the University of Massachusetts Medical School in Worcester, Mass. released the results of  a very optimistic study, in the magazine Nature. In their study, they reveal how they've developed a way to “turn off “ or more appropriately, block trisomy for chromosome 21--meaning, create an obstruction against the mutation that activates Down Syndrome within developing cells. With chromosome 21 trisomy a cell's DNA contains three copies of chromosome 21 instead of the normal two copies. In effect, this is like having extra code in a computer program, so the computer tries to run both programs at once, with unpredictable and frustrating results. In a developing fetus, chromosome 21 trisomy makes it particularly difficult for stem cells to differentiate out into brain cells, thus the cognitive deficiency in people with Down Syndrome.

 At present, the research, breakthrough that it is, is only useful to scientists wanting to study the pathology of the 21 trisomy mutation. But those studies will eventually lead to gene therapies, or possibly medications, most likely administered to a fetus presenting genetic markers for the syndrome. The most prevalent theory being, the treatments will sheath the third, extraneous, chromosome rendering it harmless and allowing the fetus to develop normally.

 To date, screening for Down Syndrome is risky for the fetus, since it involves the extraction of amniotic fluid. In addition to the possible dangers, the current tests are not reassuringly accurate, according to a June 7, 2013 article on However, that same article also identifies a new, non-invasive blood test which uses fetal blood circulating in the mother's blood stream to screen for chromosomal damage. The new test, being developed by Dr. Kypros Nicolaides and fellow researchers at the Harris Birthright Research Centre for Fetal Medicine at King's College London in the U.K., carries no risk to the fetus, and is far more accurate. According to the CBS article, “The researchers found both the cfDNA tests (blood test) and combined tests (amniotic fluid test) detected all the disorders, however, the false-positive rates were 0.1 percent (for the blood test) and 3.4 percent (for the amniotic fluid test) respectively. That suggests the cfDNA blood test was more accurate. With the new test you get a result which is either more than 99 percent chance, or a less than one in ten thousand chance.”

 When one's only options are to terminate one's potential child, or possibly bring it to term with a debilitating genetic disorder, even ignoring the social and religious pressures, uncertainty is not even in that person or couple's vocabulary. The new blood test, not yet available, offers new hope, and new controversy.

 As recently as July 13, 2013, Texas passed massive new abortion restrictions, and will close all but five facilities where abortions may be performed safely. Depending on the extent to which these measures extend beyond Texas, having a safe, non-invasive blood test to screen for birth defects in your potential child may be completely moot, if there are no options left to you but to bring the poor, afflicted infant to term.

 All this makes progress on the treatment prospects promised by Jeanne Lawrence and team's research all the more important. Certainly, even though the treatments would alleviate untold suffering by potential caregivers and sufferers alike, there will be fanatics who will protest against treating the unborn as interfering with God's will, or “advocating” for fetuses who are unable to make an informed decision about the treatment(s). And yes, there have, in fact, been cases where extremely fanatical parents have allowed their children to die, rather than “subject” them to medical care. In such cases, even in socially conservative areas, the laws have tended to side with modern medicine. Turning toward more “average” parents, to whom the word “rational” often does not apply, as regards their children, the discussion becomes, once again, focused on genetics and the drive to procreate and protect one's offspring. What argument could possibly be brought to bear to divert a parent from getting treatment for a fetus with indications of Down Syndrome, who has the potential to be born free of deformity and mental restriction?

 The only credible barrier to that treatment would be money. A parent will beg, borrow, and steal, but if the money is just not there, well, that's that.

 Which makes the decision by the United States Supreme Court, in the case of Association for Molecular Pathology v. Myriad Genetics, rendered June 18, 2013 all that much more important.

 As reported in a previous article, on April 15, 2013, the U.S. Supreme Court took up the case of  Association for Molecular Pathology v. Myriad Genetics. The legal principle being established by the court's decision would be whether or not corporations or individuals can hold patents on human, or any other naturally occurring DNA, or segment thereof. The practice of patenting various strands of DNA had become quite lucrative, since the owner of, say, a chain of DNA comprising a virus, could charge steep royalties to any other company or laboratory who wished to research that particular strand, in order to develop a vaccine for the virus.

 In the Association for Molecular Pathology v. Myriad Genetics case, specifically, Myriad Genetics held a patent on a DNA sequence that represented a mutation in humans that could be used to predict the likelihood of breast or uterine cancer in women carrying that gene mutation. Because of their patent, other companies were prohibited from using that gene sequence to create their own version of an early warning test for those cancers.

 On June 18th, the High Court ruled that, no, no one may patent a naturally occurring DNA structure, and that any and all are free to use “discovered” gene sequences to develop tests and treatments. That means, when treatments for Down Syndrome are finally developed, there will be competition in the marketplace which will keep the prices reasonable (after developmental costs have been recouped). Competition, reasonable pricing, and the potential for eliminating long-term care costs will all mean covering the costs of treatments will be attractive to insurance companies.

 Given that any realistic form of health care reform is in place by the time treatment becomes available, there will be no need to terminate a pregnancy due to the potential for Down Syndrome.

 Because of the Court's ruling on June 16, 2013, the prices may even be reasonable enough to export to developing nations.

 One can hope.

comments powered by Disqus