Navigation Links
Gene Sequencing Helps Twins With Rare Disorder
Date:6/15/2011

By Jenifer Goodwin
HealthDay Reporter

WEDNESDAY, June 15 (HealthDay News) -- Twins with a rare disorder that left one of them unable to walk are now playing soccer and running track, thanks in part to cutting-edge technology known as whole-genome sequencing that enabled physicians to better treat the disorder.

Soon after Alexis and Noah Beery were born it was obvious to their parents, Joe and Retta, that the twins were different from their older brother, Zach. They cried nonstop, vomited frequently, had poor muscle tone and missed their developmental milestones.

Looking for answers, Retta took them to dozens of specialists who did blood draws and brain scans. Eventually, physicians diagnosed the twins with cerebral palsy, which can be caused by a lack of oxygen in the womb that injures the brain, leading to movement difficulties, muscle weakness and tight, constricted muscles or joints.

Despite various therapies, at age 5, Alexis's condition suddenly worsened, something Retta knew wasn't typical of cerebral palsy from the countless hours she'd spent researching her children's condition. Alexis was having difficulty swallowing, could hardly sit up on her own and was wasting away.

Desperate, Retta again went looking for answers.

During her hunt, she came across an old newspaper article about a rare disorder, dopa-responsive dystonia, which is caused by a deficiency of the brain neurotransmitter dopamine and is often misdiagnosed as cerebral palsy. The symptoms matched her daughter's: tremors, muscle rigidity and difficulty walking, especially later in the day.

"Everything in me knew this is what Alexis had," Retta said.

And there was good news: Dopa-responsive dystonia is treatable.

The Beerys, who were living in Phoenix, Arizona at the time, found a physician in Michigan who was looking for people with dopa-responsive dystonia who had been misdiagnosed. He prescribed levodopa (L-Dopa), the same medication used to treat people with Parkinson's, another disease in which dopamine deficiency also plays a crucial role.

That night, Alexis slept through the night for the first time in her life. Within 24 hours, Alexis, whose disease had grown more severe more quickly than her brother's, was able to walk on her own for the first time in months.

"We knew we were witnessing a miracle," Retta said.

Soon after, Noah's condition also began to worsen and he too saw marked improvement on L-Dopa.

All was going well until about six years ago when Alexis developed a severe, nagging cough and breathing difficulties. Doctors again were stumped. Asthma medications didn't work. After Alexis passed out from lack of oxygen, she had to give up sports. The family was giving her epinephrine in a nebulizer multiple times daily to keep her breathing.

By this point, the family had moved to San Diego and Joe Beery was working for Life Technologies Corp., based in Carlsbad, Calif., which makes gene sequencing technology used by researchers at Baylor Human Genome Sequencing Center. The Beery's wondered if whole-gene sequencing, which scans the entire genome for mutations, would yield answers about what was wrong with Alexis.

When the researchers at Baylor sequenced the twins' genome, they found that the twins had a particular subtype of dopa-responsive dystonia that prior research has shown isn't due to just a dopamine deficiency, but also to a serotonin deficiency, another key neurotransmitter.

Only about 3 percent of people with dopa-responsive dystonia have the mutation, said lead study author Matthew Bainbridge, a post-doctoral fellow at Baylor, whose research was published in the June 15 issue of Science Translational Medicine.

When the family got the results in January, physicians put the twins on a supplement, 5-HTP, to boost their serotonin levels, and within weeks Alexis's cough subsided. Noah also saw an improvement in his fine-motor skills and focus at school, something he'd been struggling with.

Experts say the findings are among the first time that whole-genome sequencing has revealed information that physicians could immediately use to improve treatment -- something that may herald a new era of medicine.

"Up until this point, a lot of gene sequencing is basic science. We can determine which gene is involved, but the next step, developing the drug, isn't there yet," Bainbridge said. "This is what makes this study fairly unique in that it was medically actionable."

Other experts agree there is more to come. It was only in 2003 that the first whole-genome sequencing was completed -- the Human Genome Project, which was enormously expensive, according to Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospital in Kansas City.

Subsequent sequencings cost between $1 million and $2 million. Today, the cost is about $10,000, said Kingsmore, who wrote an accompanying editorial.

Even newer, more targeted and less expensive technologies have the potential to bring down the cost to $5,000 or even lower, Kingsmore said, although as of now, those are not available outside of research institutions.

But if such lower-cost sequencing became available, it could lead to more accurate, faster diagnosis of the nearly 3,000 Mendelian diseases, or diseases caused by a mutation on a single gene, such as sickle cell anemia or cystic fibrosis, for which research has identified a known genetic cause.

Today, families often spend many stressful months and years visiting doctors and undergoing tests to figure out what's going on with their child.

Kingsmore said that for some of these diseases, whole-gene sequencing might help solve the "bottleneck" in terms of the inability to make a diagnosis -- or a diagnosis that takes so long that the child is very late in the disease before physicians figure out what is wrong. "If we can make an early diagnosis, that will breathe fresh life into looking for new treatments," Kingsmore said.

Today, Retta Beery is like many other moms. She spends afternoons shuttling her now 13-year-old twins to soccer, volleyball and track practice. But she may have a different take on that role.

"Every time they do anything, we continue to be in awe," she said. We don't take it for granted. We know how incredible it is they are able to function and to do the things that they are doing. We want them to know this is their testimony, and what has really shaped our whole family in so many ways."

More information

We Move has more on dopa-responsive dystonia.

SOURCES: Matthew Bainbridge, Ph.D., post-doctoral fellow, Baylor College of Medicine, Houston; Stephen Kingsmore, D.Sc., M.B., Ch.B., director, Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Mo.; June 15, 2011, Science Translational Medicine


'/>"/>
Copyright©2010 ScoutNews,LLC.
All rights reserved  

Related medicine news :

1. Scripps Health Begins Pioneering Study of Human Tumor Sequencing in Cancer Patients
2. Johns Hopkins scientists develop personalized blood tests for cancer using whole genome sequencing
3. Gene Sequencing Yields Picture of Human Gut
4. Genome Sequencing Reveals How Breast Cancer Spreads
5. Genentech uses Complete Genomics human genome sequencing service to compare tumor and normal genome in patient with non-small cell lung cancer; results published in Nature
6. Whole genome sequencing used to help inform cancer therapy
7. Genome sequencing used to assess a novel form of Clostridium botulinum
8. Oxford Nanopore announces licence agreement with Harvard University for graphene DNA sequencing
9. mygenomatix: A secure cloud-like model for next-gen sequencing data analysis
10. Improving DNA sequencing: Sponge-like biosensor crams enormous power into tiny space
11. UNT Health Science Centers Roby Helps Identify Bodies of Chiles Patio 29
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Gene Sequencing Helps Twins With Rare Disorder 
(Date:12/2/2016)... ... December 02, 2016 , ... The annual time frame to change Medicare health ... is ending December 7th. Currently-enrolled Medicare beneficiaries who are looking to switch from their ... D) need to make changes during this period order for their new policy to ...
(Date:12/2/2016)... ... December 02, 2016 , ... With the number of ... of an injury, patients must find the one that works for them. When an ... created a machine that worked and decided to share it with others. , He ...
(Date:12/2/2016)... ... December 02, 2016 , ... Dr. Raffi ... be included in the 2016 “Guide to America’s Top Plastic Surgeons” for seven ... amalgamation of their education, experience, and professional associations. , One the most ...
(Date:12/2/2016)... ... December 02, 2016 , ... Mediaplanet is proud ... Today, which covers the innovative treatments, therapeutic technologies, and revolutionized nutrition that are ... are prolonging life 6 years in the last 3 decades,” says Dr. Valentine ...
(Date:12/2/2016)... ... December 02, 2016 , ... The ... Waikiki Beach Resort and Spa in Honolulu, offering local frontline clinicians the opportunity ... management. , The demand for supplemental training related to pain management has ...
Breaking Medicine News(10 mins):
(Date:12/2/2016)... plc (NYSE: AGN ), a leading global pharmaceutical ... Share Repurchase (ASR) Program. Logo - http://photos.prnewswire.com/prnh/20150612/222796LOGO ... , , ... Company entered into a variable tenor ASR arrangement on  November ... of its ordinary shares. Approximately 40.5 million shares worth $8 ...
(Date:11/30/2016)... -- Research and Markets has announced the ... Neurosurgical and Monitoring Devices 2017 - MedView" report to ... , ... report suite on the U.S. market for neurological devices includes ... monitoring devices, detachable coils, liquid embolics, catheters, guidewires, balloon occlusion ...
(Date:11/30/2016)... Varian Medical Systems (NYSE: VAR ... Company in the Healthcare Equipment and Services industry, according ... "JUST 100 List." The rankings are based on criteria ... on attitudes towards corporate behavior, involving 50,000 Americans over ... companies against their peers within 32 major industries. The ...
Breaking Medicine Technology: