Wednesday, September 12th, 2012
A rare but serious genetic disorder called severe combined immune deficiency syndrome (SCID) has been successfully treated with gene therapy in a brother and sister who are both afflicted with the disease, MSNBC.com is reporting. The disease is most closely associated with 13-year-old David Vetter, who died in the 1970s after spending years in a plastic isolation “bubble.” From MSNBC.com:
Abby and Colton [Ainslie] both had a type called SCID-ADA, which account for about 15 percent of SCID cases. Their bodies produce a faulty version of an enzyme called adenosine deaminase or ADA. Without it, immune cells die. Most patients die by the time they are about 2 from some infection, because their immune systems just can’t fight off germs….
Gene therapy sounds simple. If a patient has a disease caused by a single mutated gene, just replace the bad gene and everything should be all right. But it’s not so simple. For one, it’s hard to get a new gene into the body, to get cells to take it up and use it. Scientists mostly use viruses to get the job done, because viruses infect by invading cells and injecting their own genetic material.
But the viruses can cause trouble, even seemingly harmless ones. In 1999, 18-year-old Jesse Gelsinger died during a gene therapy clinical trial when his immune system overreacted to the virus being used to carry the new gene into his body. And when French and British doctors first tried gene therapy for SCID a few years later, they cured a few infant boys, but five have developed leukemia as a result –although the leukemia was relatively easy to cure.
And the body doesn’t always hang on to the new gene, or sometimes the gene gets inserted into a place where it doesn’t work. And in the cases of kids with SCID-ADA, it wasn’t clear why, but the gene therapy did not seem to be helping. Kohn’s team, led by Dr. Fabio Candotti at the National Institutes of Health, was tweaking the approach. European researchers had treated 10 children with SCID-ADA but U.S. researchers had not succeeded.
Image: DNA lab, via Shutterstock
Wednesday, May 2nd, 2012
Avery Canahuati, the 5-month-old girl who captured the nation’s heart with her family’s embrace of life despite a devastating diagnosis, died Monday of complications from spinal muscular atrophy (SMA). The disease is the number one genetic killer of children under age 2 in the U.S., with 1 in 40 Americans carrying the gene that can lead to the disease.
From ABC News:
The little girl’s lung collapsed and she went into cardiac arrest Monday afternoon, her father, Michael Canahauati wrote in an update on her blog, Avery’s Bucket List. Babies with severe types of SMA have difficulty regulating their breath and are especially vulnerable to respiratory complications.
“Avery’s passing this quickly came as a complete shock to all of us, as she had just been given a thumbs up at her last doctor’s appointment only three days ago,” Mike Canahauati wrote in a blog post today. “While we were aware of the severity of her diagnosis, we never lost hope for Avery.”
Her father wrote that the disease never took away Avery’s smile and he shared a photo of Avery smiling before she was rushed to the hospital Monday.
On April 6, Avery was diagnosed with Type 1 SMA, or the most severe type of spinal muscular atrophy, an incurable, genetic disorder that attacks spinal neurons and progressively debilitates muscle function. Having Type 1, doctors gave Avery 18 months to live.
To cherish every moment with their daughter, the Canahuatis, from Bellaire, Tex., created “Avery’s Bucket List,” a sweet and joyful blog written from Avery’s perspective, where they chronicle her world and track their family adventures, checking things off from the bucket list as they go.
Recently, Avery threw out the first pitch at a minor league baseball game in Houston, got a tattoo, a driver’s license and had her first kiss.
The Canahauti family says they will help raise $365,000 to find a cure for SMA.
Image: Avery Canahauti, via http://averycan.blogspot.com/
Thursday, April 12th, 2012
Could a drug reverse some of the health and behavioral effects of autism spectrum disorders (ASD)? New research involving mice with a genetic condition that leads to autism-like behaviors is suggesting it might be possible, The Boston Globe reports:
A study out Wednesday in the journal Neuron found that medication could correct the health and behavior problems of mice with a genetic condition known to lead to autism in people. The drug, which acts on the synapses, or gaps, between brain cells, reversed a vast range of symptoms often associated with autism — including lack of sociability, physical awkwardness, and hyperactivity.
Most surprising, the drug worked on adolescent mice, showing that these symptoms are reversible even after the critical period of early brain development.
“I was thrilled,” said Mark Bear, the MIT neuroscientist who led the research.
Bear helped found a company, Seaside Therapeutics, which is currently studying a similar drug in people with Fragile X, a genetic condition that often leads to autism. The mice had the same genetic change as the people in the study. Roche and Novartis are also studying similar medications, with effectiveness trials due to be completed in about a year.
“I can’t tell you how exciting it is right now, and how anxiously I am awaiting the impact of these clinical trials,” Bear said. “It seems that in Fragile X and maybe other causes of autism there is essentially a metabolic problem.”
The problem in Fragile X, Bear said, seems to be that there are too many proteins being produced in the junctures between brain cells. Flooded with proteins from one brain cell, the receptors at another don’t know which protein to accept, and, essentially, a traffic jam results.
Bear said he was amazed, several years ago, when he realized that a tie-up between brain cells could cause the full range of symptoms found in autism.
“It truly is extraordinary that this receptor seems to give rise to so many aspects of the disease,” he said.
Image: Prescription pad, via Shutterstock.
Tuesday, March 13th, 2012
A Portland, Oregon couple was awarded nearly $3 million in damages last week after they sued their health care providers for failing to diagnose their daughter with Down syndrome in utero. Ariel and Deborah Levy sued for “wrongful birth” because they said had they known the diagnosis, they would have opted to have an abortion.
The couple underwent a number of screening tests for Down’s syndrome, The Oregonian newspaper reports, including ultrasound screenings and bloodwork–which showed an elevated risk of the fetus having the disorder–and a procedure called chorionic villus sampling, or CVS–which showed that the fetus was did not in fact have Down’s. The Levy’s lawsuit alleged the lab that conducted the CVS mistakenly analyzed Deborah Levy’s tissue, rather than the fetus’.
The Levys learned within a week of their daughter Kalanit’s birth that she did in fact have Down syndrome. The couple, who has two older, healthy sons, sued for the estimated $3 million additional lifetime costs they will incur to care for Kalanit. A jury, voting 12-0 after only 6 hours of deliberation, awarded the family nearly the entire amount.
The Oregonian reports on the broader issue of so-called “wrongful birth” lawsuits:
Experts say so few parents choose to file wrongful birth suits because it forces them to take an awkward position: They must be willing to say on the record that they would have aborted the pregnancy, and that they feel a burden — albeit financial — of raising the child.
The Levys’ attorney, David K. Miller, said his clients deeply love their daughter but worried about being portrayed as heartless. Miller said they sued because they worried about providing all that their daughter would need over her lifetime. Experts testified that she will continue to need speech and physical therapy and face a concerning list of possible medical problems over her lifetime. Professionals have told the Levys that she will likely never be able to live independently, or earn a living.
According to several studies, 89 percent or more of expectant mothers who learned their children would have Down syndrome chose to terminate the pregnancies.
Image: Gavel, via Shutterstock.
Monday, March 12th, 2012
In an unprecedented surgical approach to treating a rare disorder, a 6-year-old Florida girl has received a triple organ transplant–Angela Bushi received a new liver, two kidneys, and a pancreas. MSNBC.com reports that the surgeries, which took place in December, offer hope for a longer, better-quality life for Angela, who is suffering from Wolcott-Rallison Syndrome, a rare, fatal genetic disorder:
Only about 60 cases of the disorder – which causes infant-onset diabetes and liver failure, as well as bone fractures, intellectual impairment and frequent infections — have been reported. Only one of those children lived into young adulthood. It had killed Angela’s younger sister and damaged Angela’s organs.
On December 29, in an unprecedented multiple-organ transplant on a child, Angela received a liver, two kidneys and a pancreas, doctors said.
The operation – the first time a transplant has been used to treat the disorder — “might offer some hope for these children with this rare syndrome, that life can be prolonged, hopefully in a very meaningful way,” Dr. Andreas Tzakis, transplant surgeon, told msnbc.com Thursday. Tzakis is the chief of the liver and digestive tract program at Jackson Memorial Hospital.
