There was one compelling reason why I opted out of genetic testing with my last pregnancy. The risk of miscarriage due to amniocentesis was the same as the risk of having a baby with Down Syndrome.

Amniocentesis is considered the gold standard, but it’s an invasive procedure with a 1/100 risk for miscarriage, the same risk for Downs. I quickly realized I would rather give birth to a baby with Downs than be responsible for a miscarriage.

Fortunately, now there is a new, totally non-invasive procedure for genetic testing of Down Syndrome. It only requires the maternal blood sample (basic blood draw) to spot chromosomal abnormalities in the fetus. Scientists from Stanford University utilized fetal DNA fragments in the mother’s blood and read the fragments using DNA sequencing. Women with Down syndrome pregnancies showed the chromosome 21-fragments in their blood compared to women with normal pregnancies. Lead scientist Stephen Quake hopes their new technique holds up in further research, to become a simple and inexpensive genetic testing tool.

UPDATE: Marijke talked about this too, and with a personal story of her brother who has Downs, at the channel’s pregnancy/infant blog Womb Within.

source: Market Watch/Karen Roach - Fotolia.com

Enlarged hearts are found often, but not exclusively, in those who are obese, have diabetes or high blood pressure. People with none of these underlying problems can be affected, as can elite athletes.  For example, a post-mortem diagnosed the problem in Cameroon football midfielder Marc-Vivien Foe, who died in 2003 after collapsing during an international match in France. Elite runner Olympic hopeful Ryan Shay died of complications involving an enlarged heart - the very condition that made him a great runner.

An international  research team headed up by Imperial College, UK say they have for the first time linked enlarged hearts with a gene, osteoglycin (Ogn).

Work carried out on rodents and some 30 humans indicated that Ogn - which has never before been linked with heart function - regulated the growth of the heart’s main pumping chamber, its left ventricle.  When this gene behaves abnormally the heart can become enlarged, putting the person at an increased risk of common heart diseases and heart attacks.

For further information, click on:

http://www3.imperial.ac.uk/newsandeventspggrp/imperialcollege/newssummary/news_29-4-2008-13-31-10

Elaine Warburton  www.geneticsandhealth.com

Thank you to Jennifer Texada at MD Anderson for bringing this great cancer treatment discovery to my attention….

(Image courtesy Introgen Therapeutics)

A gene therapy invented at The University of Texas M. D. Anderson Cancer Center is the first to succeed in a U.S. phase III clinical trial for cancer.  Introgen Therapeutics, Inc a spin out from MD Anderson, reported results of its phase III trial of Advexin, a modified adenovirus that expresses the tumor-suppressing gene p53, for end-stage head and neck cancer.

The p53 gene is inactivated in many types of cancer. Its normal role is to halt the division of a defective cell and then force the cell to kill itself.

“Cells become cancerous because p53 no longer functions. Restoring p53 works unlike any current cancer treatment because it treats the cancer genome,”said Jack Roth, M.D., professor in M. D. Anderson’s Department of Thoracic & Cardiovascular Surgery, who invented the drug and co-founded Introgen.

The trial showed that p53 expression in the patient’s tumor before treatment is a reliable biomarker for how to treat head and neck cancer. Patients with a favorable p53 profile who received Advexin had an average survival of just over 7 months, compared with just under 3 months for those whose tumor expressed high levels of mutant p53 before treatment. Patients with this unfavorable profile were better off taking the chemotherapy drug methotrexate, resulting in n average survival of just under 6 months.

“The important finding is that patients who benefit from treatment can be identified with the p53 biomarker. The biomarker will enable physicians to personalize treatment,” said Roth.

Better Quality of Life

Patients treated with Advexin experienced far fewer harmful side effects such as pneumonia than those who received methotrexate. The incidence of inflammation of the mouth lining and a decrease in white blood cells, for example, both dropped to zero for those receiving Advexin.

“That certainly results in a better quality of life,” Roth noted, which makes sense because p53 does not cause problems in normal cells.

Roth’s lab has been developing gene therapy for cancer since 1990. “We wanted to go beyond conventional treatment, because most of those treatments were not very effective,” Roth said. “Surgery and radiation are limited to the local tumor and once given, it’s very hard to repeat those therapies.  Chemotherapy inhibits DNA replication, but it also interferes with normal cells.”

Elaine Warburton  www.geneticsandhealth.com

Mutations in a gene called FIGLA cause premature ovarian failure in at least 1% of women who suffer from the disorder, said researchers from Baylor College of Medicine in Houston and Shandong University in China in a report that appears online in the American Journal of Human Genetics. Premature ovarian failure, which means that the ovaries lose function before age 40, not only causes infertility but also bone and heart problems.  Ovarian reserves are important for women’s health.

FIGLA is one of four transcription factors found to control the differentiation of egg cells early in development. Transcription factors govern the activity of genes, turning them off and on and modulating the extent to which they are active.  The other genes involved include NOBOX, GDF9 and BMP 15.  Mutations in these can lead to premature ovarian failure as well.

“We hope to define majority of the genes that are part of the cellular pathways involved in ovarian failure,”said Dr. Aleksandar Rajkovic, associate professor of obstetrics and gynecology at BCM and senior author of the paper.

“Ideally in the future we will offer a test to women to look at all the genes involved in premature ovarian failure.”

He anticipates that a gene chip would be helpful in such diagnosis, which can help in counseling women or their children about the risk of early ovarian failure.

For up to date information on fertility and women’s health, visit my b5 friend Gabrielle at www.fertilitynotes.com

Elaine Warburton  www.geneticsandhealth.com

(Image credit www.about.com) 

A University of Carolina study monitoring 1200 newborns from the ‘Isle of Wight cohort’ found that first borns were more likely to carry a gene variant which raised their risk of developing an allergy before the age of 10.  The study suggested that a first born experienced different conditions in the uterus from subsequent siblings.

The researchers measured levels of an antibody called Immunoglobulin E (IgE) in the babies’ umbilical cord blood.  This is known to play a key role in the development of allergic responses.   First born babies were more likely to have high levels of IgE, and those that did were also more likely to show signs of an allergic response when they were subsequently tested, using a skin prick test, at the age of four and ten.

The researchers also believe they may have pinned down the genetics behind the difference to variations in a gene called IL13, which controls production of a stress hormone called a cytokine, which in turn influences levels of IgE. They found that first born children were more likely to carry a variant of IL13 which raises levels of the cytokine, and in turn IgE.

The researchers believe that birth order may affect expression of the gene during the foetal differentiation and development.

Lead researcher Dr Wilfried Karmaus said:

“We were not surprised that birth order had an effect on the development of the immune system, but were surprised that this interaction persisted at least through age ten … Our findings add to the evidence that allergic reactions are programmed during pregnancy and then effect the disease in later life. … This finding may partially account for the increasing prevalence of asthma and allergies in children in the last 30 years, primarily seen in the western world, as developed nations’ birthrates continue to decline.”

He said that if a way to modify those conditions could be found to make them more like those experienced by later born children, then potentially it might be possible to prevent 20-30% of all cases of asthma and allergy.

http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2366045

Elaine Warburton  www.geneticsandhealth.com

Thank you to Alyssa Friedland  from Genetic Alliance for this press release - a momentous occasion in the field of genetics.  I have decided to issue the press release in its entire form.  You may think me biased but the arguments put forward in the statement are cogent, well thought out and they echo my own opinions.

What we need to do now is ensure that we take a responsible approach to this legislation and continue to ensure that the field of genetics is introduced into mainstream medicine ethically and to the highest clinical standards.

Elaine Warburton   www.geneticsandhealth.com

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President Bush Signs Landmark Genetic Nondiscrimination Information Act Into Law

The Coalition for Genetic Fairness (http://www.geneticfairness.org) commends President George W. Bush for signing into law today the first civil rights legislation of the new millennium, the Genetic Information Nondiscrimination Act (GINA).

GINA is the first and only federal legislation that will provide protections against discrimination based on an individual’s genetic information in health insurance coverage and employment settings.

“This is a tremendous victory for every American not born with perfect genes – which means it’s a victory for every single one us,” said Representative Louise Slaughter (D-NY). “Since all of us are predisposed to at least a few genetic-based disorders, we are all potential victims of genetic discrimination. Today marks the beginning of a new era in health care,” continued Slaughter. “Americans can finally take advantage of the tremendous potential of genetic research without the fear that their own genetic information will be used against them.”

Just a few weeks ago, GINA received overwhelming support in both the Senate, with a unanimous vote of approval, and the House of Representatives, where the legislation was passed by a landslide vote of 414-1. “Individuals no longer have to worry about being discriminated against on the basis of their genetic information, and with this assurance, the promise of genetic testing and disease management and prevention can be realized more fully,” stated Sharon Terry, president of the Coalition and CEO of Genetic Alliance (http://www.geneticalliance.org).  “We applaud our champions on the Hill who have worked tirelessly to pass this important legislation. It is now our responsibility to make sure the public knows that these new protections are in place.”

The health insurance protections offered by GINA are expected to roll out 12 months after the bill is signed, whereas the employment protections will be fully realized in 18 months.

“Now that GINA has been approved and signed into federal law by the President, American health care consumers and employees will no longer have to fear the adverse effects of being tested to determine their risk status for genetic diseases,”said Joann Boughman, Ph.D., executive vice president of the American Society of Human Genetics (http://www.ashg.org) and a member of the Coalition’s executive committee. “Once this legislation has taken effect, clinicians will be able to order genetic tests for patients and their families in a manner that ensures the full realization of the advantages of personalized medicine, while also easing patients’ concerns about the risk of genetic discrimination by insurance companies and employers based on this data.”

Specifically, the legislation protects against genetic discrimination by health insurers or employers by:

* Prohibiting group health insurance plans and issuers offering coverage on the group or individual market from basing eligibility determinations or adjusting premiums or contributions on the basis of an individual’s genetic information. Insurance companies cannot request, require or purchase the results of genetic tests, and they are prohibited from disclosing personal genetic information.

*  Prohibiting issuers of Medigap policies from adjusting pricing or conditioning eligibility on the basis of genetic information. They cannot request, require or purchase the results of genetic tests, or disclose genetic information.

*  Prohibiting employers from firing, refusing to hire, or otherwise discriminating with respect to compensation, terms, conditions or privileges of employment. Employers may not request, require or purchase genetic information, and they are also prohibited from disclosing personal genetic information. Similar provisions apply to employment agencies and labor organizations.

A team from The University of Alabama (UAB) have found that among billions of HIV variants only a few lead to sexual transmission.

George M. Shaw Professor in the UAB departments of Medicine and Microbiology and senior author on the report, said the research sheds new light on potential vulnerabilities in the virus at a time when science, medicine and society are still reeling from the failure of a major HIV vaccine clinical trial.

“We can now identify unambiguously those viruses that are responsible for sexual transmission of HIV-1. For the first time we can see clearly the face of the enemy. …Our findings allow us to identify not only the transmitted virus, but also viruses that evolve from it.”

The study was performed by sequencing many copies of the HIV envelope gene present in the viruses taken from 102 recently infected patients. The envelope gene encodes for a protein called Env that forms part of the outer covering of the virus, and is responsible for its infectiousness.

The researchers then used sophisticated mathematical models of HIV replication and genetic change to identify the virus or viruses responsible for transmission. In 80 percent of the newly infected patients, a single virus caused transmission, though each virus was different in each patient. In the other 20 percent of patients, two to five unique viruses caused transmission.

According to WHO, in 2007, 33.2 million people were estimated to be living with HIV, 2.5 million people became newly infected and 2.1 million people died from AIDS.

Elaine Warburton  www.geneticsandhealth.com

Researchers have found marked genetic differences between brains of men who committed suicide and the brains of men who did not. Of those individuals studied, all had been victims of child abuse.

Even though the genetic sequence was the same in the suicide and non-suicide brains, researchers at the McGill University, Montreal, Quebec, led by Moshe Szyfa, discovered that epigenetic markings were different. That is, the researchers noted a chemical coating on genes that was influenced by environmental factors. In this unique study, the DNA of male suicide victims from Quebec was analysed. The 13 people who committed suicide all had been victims of child abuse.

“It’s possible the changes in epigenetic markers were caused by the exposure to childhood abuse, although in humans it’s difficult to establish causality between early childhood and epigenetic markers, in the way we have established this in animal subjects,”said Szyfa. “The big remaining questions are whether scientists could detect similar changes in blood DNA - which could lead to diagnostic tests - and whether we could design interventions to erase these differences in epigenetic markings”

“Our data are merely consistent with the hypothesis that early life events can alter the epigenetic status of genes that mediate neural functions, and thus contribute to individual differences in the risk for suicide,” conclude the authors.

For further information, click on the following link

http://www.plosone.org/article/fetchArticle.action?articleURI=info:doi/10.1371/journal.pone.0002085

Elaine Warburton  www.geneticsandhealth.com

(Image source:  www.livingwithcfs.wordpress.com) 

Researchers from St George’s Hospital, University of London have identified a biological basis for 7 different genetic types of Chronic Fatigue Syndrome (CFS).

The St George’s study looked at 55 patients from the US and UK with the condition, and carried out a genetic analysis of them and 75 healthy blood donors.

It identified the seven distinct subtypes of CFS/ME identified by a specific genetic pattern.  These were linked to specific symptoms.

1. Type one had the worst anxiety and depression levels, along with poor sleep and high pain levels,

2. Type two was characterised by significant post-exercise fatigue and joint and muscle pains,

3. Type three was the mildest form of the disease,

3. Type four is linked to moderate levels of body pain and sleep problems,

5. Type five had stomach complaints and the most marked muscle weakness,

6. Type six was specifically connected to fatigue,

7. Type seven had the most severe symptoms including pain, swollen glands and headaches.

Type four and Type six were the most common forms of the condition.

Campaigners hope it will help counter the opinion, which remains in some quarters of the medical profession, that it is a psychological condition.

Elaine Warburton  www.geneticsandhealth.com

(Photo source: www.female-alopecia.com)

Until now, Female Hair Loss has been difficult to predict and diagnose. That changes with today’s announcement that HairDX, LLC pioneers of consumer-friendly genetic tests for hair loss, has introduced a screening test using genetic markers strongly associated with Female Hair Loss (Female Androgenetic Alopecia).

The easy to understand test, which costs US$149, provides an accurate and understandable genetic analysis of a woman’s likelihood of developing this common type of hair loss.

“Helping women assess their risk for Female Hair Loss early in the course of their hair loss enables them to learn about potential treatment options and how they may prevent further hair loss,”says Dr. Sharon Keene, Chief Medical Officer for HairDX and former Chairman of the Annual Scientific Committee of the International Society of Hair Restoration Surgeons. “This is a treatable medical condition, and not a reason for embarrassment. Since most therapies for women are geared toward stabilizing hair loss, it is important to identify Female Androgenetic Alopecia as soon as possible and institute therapy when stabilization is most useful - before substantial hair is lost. Being informed can bring comfort and empowerment.”

For further information on this sensitive subject, do visit my b5 media fellow blogger Laura at Baldiness.

Elaine Warburton  www.geneticsandhealth.com