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Antisense oligonucleotides make sense in myotonic dystrophy

Posted: Published on February 28th, 2012

Public release date: 27-Feb-2012 [ | E-mail | Share ] Contact: Graciela Gutierrez ggutierr@bcm.edu 713-798-4710 Baylor College of Medicine HOUSTON (Feb. 27, 2012) ? Antisense oligonucleotides ? short segments of genetic material designed to target specific areas of a gene or chromosome ? that activated an enzyme to "chew up" toxic RNA (ribonucleic acid) could point the way to a treatment for a degenerative muscle disease called myotonic dystrophy, said researchers from Baylor College of Medicine and Isis Pharmaceuticals, Inc., in a report in the journal Proceedings of the National Academy of Sciences. "This is a proof-of-principle therapy that is very effective in cell culture and mice," said Dr. Thomas A. Cooper, professor of pathology and immunology and molecular and cellular biology at BCM and the report's corresponding author. "The treatment will have to be refined to deliver systemically in people with myotonic dystrophy." Myotonic dystrophy is the most common muscular disease in adults, affecting mainly the skeletal muscles, heart and central nervous system. It occurs because of a mutation that causes numerous repeats of three letters of the genetic code (CTG) in a gene called DMPK. RNA is made as a step in the cell's production of the protein … Continue reading

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A Solution for Duchenne Muscular Dystrophy? — In Depth Doctor's Interview

Posted: Published on February 28th, 2012

Talk to us about where we are right now with personalized medicine. Dr. Hoffman: Personalized medicine there's different embodiments or sort of definitions to it. There's some in current use particularly with regards to drugs. So if you take some certain drugs certain people respond very poorly to. Based on how we metabolize them or don't metabolize them, how long the drug stays in the body. So there are now genetic tests that you can make sure you're giving the right amount of drug to the right patients. So that's a from of personalized medicine and that's been around for a couple of years. It's pretty tough it's only a couple of drugs that we really understand enough but it's already underway, particularly in chemotherapy, it's one of the key areas. Personalized medicine more broadly and in terms of drug development you can get more specific that a drug is designed specifically for a patient and even developed specifically for a patient. And that's sort of more a forward thinking definition of drug development is what we're working on here and is now heading in to clinical trials, or in clinical trials. So it is actually advancing quite quickly but … Continue reading

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A Solution for Duchenne Muscular Dystrophy? – Research Summary

Posted: Published on February 28th, 2012

BACKGROUND: Duchenne muscular dystrophy (DMD) is an inherited disorder that involves rapidly worsening muscle weakness. This severe, debilitating and ultimately fatal disease is one of the most frequent genetic conditions affecting approximately 1 in 3500 male births worldwide. Affected boys are usually wheelchair-bound by their teenage years. By their late teens or twenties, the boys usually experience respiratory failure or cardiomyopathy often times resulting in death. SOURCE: (www.ncbi.nlm.nih.gov/pubmedhealth); (www.webmd.com); (www.plosone.org/)   CAUSES: DMD is genetic, but people without a known family history of the disease can get it as well. This fatal degenerative condition is caused by an absence or deficiency of dystrophin in striated muscle. Dystophin is a protein that helps keep muscle cells intact. It is also an integral structural component of skeletal and cardiac muscles and connects the contractile apparatus to the sarcolemma. SOURCE:  (www.plosone.org/) THINGS YOU DIDN'T KNOW: Males are more likely to inherit the disease than are women. The sons of females who are carriers of the disease (women with a defective gene but no symptoms themselves) each have a 50% chance of having the disease. The daughters each have a 50% chance of being carriers. SOURCE: (www.ncbi.nlm.nih.gov/pubmedhealth) DETECTIONS: With DMD, boys begin showing signs of … Continue reading

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Prognostic factors for time to treatment failure and time to 12 months of remission for patients with focal epilepsy …

Posted: Published on February 28th, 2012

Background Epilepsy is a heterogeneous disorder, with outcomes ranging from immediate remission after taking a first antiepileptic drug to frequent unremitting seizures with multiple treatment failures. Few prognostic models enable prediction of outcome; we therefore aimed to use data from the SANAD study to predict outcome overall and for patients receiving specific treatments. Methods The SANAD study was a randomised controlled trial in which standard antiepileptic drugs were compared with new treatments. Arm A included patients for whom carbamazepine was considered the first-line treatment, most of whom were newly diagnosed with focal epilepsy. Patients were randomly assigned to receive carbamazepine, gabapentin, lamotrigine, oxcarbazepine, or topiramate. Outcomes were time to treatment failure overall, because of inadequate seizure control, and because of adverse events, and time to 12 months of remission from seizures. In this post-hoc study we used regression multivariable modelling to investigate how clinical factors affect the probability of treatment failure and the probability of achieving 12 months of remission. Findings For time to treatment failure, we identified several significant risk factors: sex (male vs female, hazard ratio [HR] 0·86, 95% CI 0·75—0·99), treatment history (taking non-SANAD antiepileptic drugs [other than those listed above] vs treatment naive, 1·27, 1·05—1·53), age … Continue reading

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Acevedo family Autism Treatment testimonial – Video

Posted: Published on February 28th, 2012

27-02-2012 11:53 Acevedo family describe their experience at Interacells with the Autism treatment Read the original here: Acevedo family Autism Treatment testimonial - Video … Continue reading

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Possible change in autism definition worries some

Posted: Published on February 28th, 2012

HARTFORD, Conn. — When Caleb Geary was diagnosed with autism at age 3, he had never spoken or eaten solid food. Now 6, the boy speaks and tests at his first-grade level — progress that his parents attribute to insurance-based services at home and intensive behavioral intervention at the boy's school in Hamden, Conn. But they worry what will happen to Caleb's diagnosis — and the services that have come with it — if the American Psychiatry Association's proposal to change the definition of autism is adopted. Lori Geary said she has already fought to get her son the help he needs. Tom Zwicker, Caleb's father and the director of an autism center for the Easter Seals of Coastal Fairfield County, Conn., said he believes insurance companies will start requesting annual diagnostic evaluations if the definition is revised. As a result, his son — and many other children — will lose out on services to treat their conditions. "You have an entire group receiving services that would be left out in the cold," said Zwicker, who lives in Branford, Conn. "We're going to lose a whole generation of children." The autism community has been embroiled in a heated debate for … Continue reading

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'Toolkit' Makes Bedtime Less Stressful for Children with Autism

Posted: Published on February 28th, 2012

Newswise — The Vanderbilt Kennedy Center has created a resource with Autism Speaks to help improve sleep for children and teens affected by autism spectrum disorders. This new toolkit, titled “Sleep Strategies for Children with Autism: A Parent’s Guide,” offers strategies to help families whose children with autism have difficulty falling asleep and staying asleep through the night. Beth Malow, M.D., M.S., Burry Chair in Cognitive Childhood Development and co-developer of the sleep guide, says that sleep is a common struggle for many children with autism. This new sleep guide can help families select ideas that have the best potential to work well with their lifestyle. Developers of the guide say that with consistent routines and persistent effort, families often see changes in their child’s sleep patterns over several weeks. “My colleagues and I are excited about having the opportunity to develop this parent toolkit for sleep and are appreciative to Autism Speaks for disseminating it to families in need of this information,” Malow said. “Sleep problems in children with autism can be overwhelming for families, and we hope that this information makes a difference in their day-to-day lives.” A professor of Neurology and Pediatrics and Vanderbilt Kennedy Center Investigator, … Continue reading

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Autism not diagnosed as early in minority kids

Posted: Published on February 28th, 2012

WASHINGTON — Early diagnosis is considered key for autism, but minority children tend to be diagnosed later than white children. Some new work is beginning to try to uncover why — and to raise awareness of the warning signs so more parents know they can seek help even for a toddler. "The biggest thing I want parents to know is we can do something about it to help your child," says Dr. Rebecca Landa, autism director at Baltimore's Kennedy Krieger Institute, who is exploring the barriers that different populations face in getting that help. Her preliminary research suggests even when diagnosed in toddlerhood, minority youngsters have more severe developmental delays than their white counterparts. She says cultural differences in how parents view developmental milestones, and how they interact with doctors, may play a role. Consider: Tots tend to point before they talk, but pointing is rude in some cultures and may not be missed by a new parent, Landa says. Or maybe mom's worried that her son isn't talking yet but the family matriarch, her grandmother, says don't worry — Cousin Harry spoke late, too, and he's fine. Or maybe the pediatrician dismissed the parents' concern, and they were taught not … Continue reading

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Autism not diagnosed as early in minority children

Posted: Published on February 28th, 2012

WASHINGTON (AP) — Early diagnosis is considered key for autism, but minority children tend to be diagnosed later than white children. Some new work is beginning to try to uncover why — and to raise awareness of the warning signs so more parents know they can seek help even for a toddler. "The biggest thing I want parents to know is we can do something about it to help your child," says Dr. Rebecca Landa, autism director at Baltimore's Kennedy Krieger Institute, who is exploring the barriers that different populations face in getting that help. Her preliminary research suggests even when diagnosed in toddlerhood, minority youngsters have more severe developmental delays than their white counterparts. She says cultural differences in how parents view developmental milestones, and how they interact with doctors, may play a role. Consider: Tots tend to point before they talk, but pointing is rude in some cultures and may not be missed by a new parent, Landa says. Or maybe mom's worried that her son isn't talking yet but the family matriarch, her grandmother, says don't worry — Cousin Harry spoke late, too, and he's fine. Or maybe the pediatrician dismissed the parents' concern, and they were … Continue reading

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FDA approves Thrombotech stroke study

Posted: Published on February 28th, 2012

Thrombotech Ltd. has obtained US Food and Drug Administration (FDA) approval for a Phase IIa clinical trial of THR-18, its treatment for ischemic stroke by destroying blood clots. The trial, to be conducted in the US, will test the safety of the drug. Thrombotech began the clinical trial at Hadassah Medical Center in Jerusalem and Sourasky Medical Center (Ichilov Hospital) in Tel Aviv. The company is waiting to receive regulatory permits for trials in Europe and India. "Global Data" estimates the global market for stroke medication at $2.8 billion in 2008, and that it will grow by 3.4% a year through 2015. Clal Biotechnology Industries Ltd. (TASE: CBI) owns 46% of Thromobotech, Hadasit Bio Holdings Ltd. (TASE:HDST) owns 24%, and Ofer Hi Tech Ltd. owns 29%. Hadasit Bio's share price rose 9.8% in morning trading to NIS 0.56, giving a market cap of NIS 49 million, and Clal Biotech's share price rose 1.6% to NIS 12.95, giving a market cap of NIS 1.3 billion. Published by Globes [online], Israel business news - http://www.globes-online.com - on February 28, 2012 ? Copyright of Globes Publisher Itonut (1983) Ltd. 2012 Excerpt from: FDA approves Thrombotech stroke study … Continue reading

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