Autism on the Increase

Nov. 28, 2014

By Medical Discovery News

Autism on the Increase

Based on statistics, you probably know someone with a form of autism. Autism rates in America grew by 30 percent from 2008-2010 and have doubled since 2000. Now, one in 68 eight-year-olds are diagnosed with autism. On average, one child in each grade of every elementary school has autism.

What is responsible for the remarkable rise of this disease? Perhaps we have gotten better at diagnosing it. Now, research is working to establish how autism occurs, even before birth, and how to diagnosis it sooner.

Autism is actually not a single disease but a spectrum of disorders. It is clearly related to infant development and is caused by differences in the brain. There are multiple causes of autism, but most are not yet known. One possible connection is that people tend to conceive later. The age at which women give birth has been increasing for many years and is linked to higher chances of autism.

Diagnosis of autism spectrum disorders (ASD) relies on observing differences in a person’s communication, social skills, and typical behavior. Roughly one-third of those with autism are also diagnosed with intellectual deficits, but the remaining two-third have normal or above average intelligence. Most are diagnosed at four years old but some are identified by age two. This is critical because research has repeatedly shown that the earlier therapy starts, the more likely it will result in substantial improvement.

A new study published in the “New England Journal of Medicine” suggests that ASD begins long before birth. This study documented changes in the cerebral cortex, which is the outermost layer of the brain. Almost 90 percent of children with autism had abnormal developments of their cerebral cortexes, centered in regions associated with social and emotional communication and language. These changes appeared as patches in the brain, suggesting that they occur during the child’s development in the womb. This may also explain why early interventions are more effective, as the brain is still developing. Currently, there is no way to spot these patches appearing on the cortex during gestation or in infants, but it could be an area of future research.

However, another study, reported in the journal “Nature,” suggests that eye-tracking technology can detect autism in two- to six-month-old children. This technology looks at the ability of babies to make eye contact with adults. Those with autism show a steady decline in eye contact starting at two to six months of age. This seemingly simple behavior is actually quite complex and difficult to quantitate, requiring sophisticated video technology. Such eye movements are not noticeable to parents. If larger studies prove successful, this may become a way to screen infants for autism and begin therapy as soon as possible.

Autism will continue to make headlines as a leading childhood health concern. As always, if you have concerns about your child’s activity, speech, or social interactions, talk with your pediatrician.

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Gene for the Gold

By Medical Discovery News

Dec. 22, 2012


By the time the last athlete received their medal at the London Olympics, a record number of competitors underwent testing for performance enhancers. The International Olympic Committee took over 6,000 blood and urine samples to screen for performance enhancers that an athlete could use to boost athletic abilities. Despite this massive effort to keep the competition fair, the committee already predicts even greater efforts in future games as it contends with athletes who risk trying a way to boost performance: gene doping.

Though no athlete has been found guilty of gene manipulation yet, the idea that certain power genes could enhance athletic prowess no doubt presents a strong temptation. Currently, gene therapy is undergoing testing in people with inherited disorders such as muscular dystrophy and sickle cell anemia. Ambitious and unscrupulous athletes could use the same technology to gain a competitive advantage.

The temptation is bolstered by mounting evidence that certain elite athletes naturally possess these genes. Naturally occurring variations of over 200 genes have been identified as important to athletic success. One gene variant carried by Finnish cross-country skier Eero Mäntyranta is the erythropoietin receptor gene EPOR, which causes him to produce extra red blood cells, boosting his oxygen-carrying capacity by 25 to 50 percent. This probably helped him earn his seven Olympic cross-country ski medals.

Another, the I variant of the ACE gene found in 94 percent of the Sherpa in Nepal and in elite British long distance runners, is associated with increased endurance. However, the gene by itself, working in isolation, may not guarantee any improved athletic performance. For example, about half of Eurasians and 85 percent of Africans carry at least one copy of this endurance gene variant.

Athleticism is not likely associated with just one particular form of a gene, but results from a combination of traits that provide a natural advantage. Becoming an elite athlete requires extraordinary dedication, hard work, and professional training.

As gene therapy to treat medical conditions gains momentum and results, the sporting world might be suspicious of patients treated with this therapy. If someone undergoes gene therapy using a variant like the EPOR gene to cure familial erythrocytosis type 1, they could be ineligible to compete in the Olympics if the committee bans gene manipulation altogether.

Neither gene therapy nor gene doping are ready for prime time, but that is unlikely to stop an unscrupulous person from offering these services or an unethical athlete from trying them.  Given the fame and money that come with athletic greatness, gene doping will inevitably become an issue in future Olympic Games and other athletic events. As sport governing bodies develop tests to identify gene doping, they will have to consider how to differentiate between naturally gifted athletes and those deliberately modifying their genes.

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Spotlight on Genetic Research

Local geneticist featured on cover of Parade magazine

By Pamela Bond

Washington, D.C. Examiner

Nov. 9, 2009

Leonardo DiCaprio. Robert DeNiro. Nicole Kidman. Eric Hoffman. One of these is not like the others.

Dr. Hoffman, director of the Center for Genetic Medicine Research at Children’s National Medical Center, joined the ranks of countless actors, musicians and other celebrities on August thirtieth, 2009, when he appeared on the cover of Parade magazine. While he is not known as a household name, Hoffman is a bit of a rock star in the field of medicine. He has published over two hundred and fifty scientific articles, some of which are among the most cited in the world. He secures about nine million dollars each year to fund his research on different diseases.

While the media has not always accurately represented complicated scientific research, Hoffman decided to put aside his reservations and agree to be in the story as a way of publicizing his work to cure a debilitating disease.

The article? “Discoveries That Can Save Your Life,” which is a good way to describe Hoffman’s work. The geneticist, along with teams of researchers all over the world, is trying to find a treatment for muscular dystrophy.

“It’s a devastating disease,” Hoffman said. “Kids are normal until about four years of age and then gradually they lose all the muscles in their body so they can’t walk anymore by eleven and can’t breathe anymore by sixteen and they just die.”

Muscular dystrophy is a genetic disease, caused by a mutated gene, so people are born with it. It causes the muscles, which include not just the skeletal muscles such as those in arms and legs used for movement but muscles like the heart as well, to weaken and waste away.

Currently, Hoffman is working on a possible treatment project in London – the world’s first clinical gene therapy trial for muscular dystrophy. So far, research shows that the gene associated with the disease can be repaired using an enzyme, but researchers still have a lot of work to do before it can be tested on humans.

The article originated because Parade has a long-standing relationship with the Muscular Dystrophy Association, which hosts the famous telethon around Labor Day. Hoffman, however, was not thrilled when he was chosen to be the face of the cause.

“One thing which I think speaks to what you are trying to get at is part of the nature of people that mainly have their pictures on the cover of magazines, like actors, like you pointed out, is that that’s a good thing, right?” Hoffman said. “In other words, if you get your picture on the cover of something that’s considered a good thing. But from the scientist’s perspective, that’s not necessarily true. In fact, I was very hesitant.”

One reason he said he was cautious was because being photographed was not part of what he expected in his job as a geneticist. Another reason was because he was afraid of “overselling” the research he was doing. Hoffman had been a part of the team that worked on the Human Genome Project, which aimed to identify what trait each human gene represented. During that time, he saw that the media misrepresented a lot of the team’s work.

“They almost thought you could just sprinkle this gene on a person’s head and they’d jump out of their wheelchair,” Hoffman said. “Twenty years later that didn’t happen. So the false expectation created false hope in so many families as a consequence of those news reports and scientists.”

Finally, he works with a team of one hundred and twenty researchers at Children’s and other medical centers in different countries, and he didn’t want to seem like he was taking full credit for all their work.

“It’s the analogy of a soloist versus a chorus,” Hoffman said. “Me, I work as part of a chorus, which when we’re all unified and we’re all doing the same thing is a tremendous thing. That’s one of the things I like about it – it’s incredibly orchestrated.”

In the end, bringing awareness to the research at the center and the potential it has to save children’s lives satisfied his doubts.

“The end result of the article was to generate interest and public awareness in muscular dystrophy and its research progress, which is tremendous,” Hoffman said. “In the last few years, we’ve been actively involved in a treatment for the kids that are just dying. So that was the focus of the article, even though it only had a few sentences on that.”

Actually seeing his face on the cover, however, was a whole different story.

“My initial reaction, now that I think about it, was wondering how many people’s cup of coffee I ruined that morning,” Hoffman said, because he does not picture himself as glamorous as most celebrities who pose for magazine covers.

Relatives who had never met Hoffman told him at a family get-together that they had placed the magazine on their mantels in hopes of meeting him.

Hoffman’s interest in genetics began in high school, when he took a course on biology and human values, which looked at the intersection of science and societal values. The ethics of that subject attracted him to the field, he said.

Hoffman studied biology and music at Gettysburg College in Pennsylvania, then earned his doctorate in genetics from Johns Hopkins University. His post-doctoral work at Harvard University consisted of experimenting on fruit flies, changing their eye color or wings. But Hoffman wanted to work with human diseases. His goal now is to “fix these kids, to dramatically change their way of life.” He still carries his passion for science and society.

“To some respect I feel that my goal now is a people scientist, someone who tries to get people from very diverse backgrounds working together for a common goal,” Hoffman said. “I think that’s great. It’s the fundamental strength of humanity to take on these large, collaborative projects.”

Although the Parade article was short, he believes it accomplished what it was meant to.

“It’s so much of a balance of hope and hurt,” Hoffman said. “I think Parade achieved that so I was quite happy.”

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