[News release] Closer than ever to a personalized treatment solution for intellectual disability — ScienceDaily

Closer than ever to a personalized treatment solution for intellectual disability 

From the press release

JUPITER, FL – January 21, 2015 – Scientists from the Florida campus of The Scripps Research Institute (TSRI) have produced an approach that protects animal models against a type of genetic disruption that causes intellectual disability, including serious memory impairments and altered anxiety levels.

The findings, which focus on treating the effects of mutations to a gene known as Syngap1, have been published online ahead of print by the journal Biological Psychiatry.

“Our hope is that these studies will eventually lead to a therapy specifically designed for patients with psychiatric disorders caused by damagingSyngap1 mutations,” said Gavin Rumbaugh, a TSRI associate professor who led the study. “Our model shows that the early developmental period is the critical time to treat this type of genetic disorder.”

Damaging mutations in Syngap1 that reduce the number of functional proteins are one of the most common causes of sporadic intellectual disability and are associated with schizophrenia and autism spectrum disorder. Early estimates suggest that these non-inherited genetic mutations account for two to eight percent of these intellectual disability cases. Sporadic intellectual disability affects approximately one percent of the worldwide population, suggesting that tens of thousands of individuals with intellectual disability may carry damaging Syngap1 mutations without knowing it.

In the new study, the researchers examined the effect of damagingSyngap1 mutations during development and found that the mutations disrupt a critical period of neuronal growth—a period between the first and third postnatal weeks in mouse models. “We found that a certain type of cortical neuron grows too quickly in early development, which then leads to the premature formation of certain types of neural circuits,” said Research Associate Massimilano Aceti, first author of the study.

The researchers reasoned that this process might cause permanent errors in brain connectivity and that they might be able to head off these effects by enhancing the Syngap1 protein in the newborn mutant mice. Indeed, they found that a subset of neurons were misconnected in the adult mutant mice, suggesting that early growth of neurons can lead to life-long neural circuit connectivity problems. Then, using advanced genetic techniques to raise Syngap1 protein levels in newborn mutant mice, the researchers found this strategy completely protected the mice only when the approach was started before this critical developmental window opened.

As a result of these studies, Rumbaugh and his colleagues are now developing a drug-screening program to look for drug-like compounds that could restore levels of Syngap1 protein in defective neurons. They hope that, as personalized medicine advances, such a therapy could ultimately be tailored to patients based on their genotype.

In addition to Rumbaugh and Aceti, other authors of the study, “Syngap1 Haploinsufficiency Damages a Postnatal Critical Period of Pyramidal Cell Structural Maturation Linked to Cortical Circuit Assembly,” include Thomas K. Creson, Thomas Vaissiere, Camilo Rojas, Wen-Chin Huang, Ya-Xian Wang, Ronald S. Petralia, Damon T. Page and Courtney A. Miller of TSRI. For more information, seehttp://www.biologicalpsychiatryjournal.com/article/S0006-3223%2814%2900593-9/abstract

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[Press release] Living longer, not healthier

Living longer, not healthier 

From the press release

New research by UMass Medical School suggests genes that extend lifespan won’t necessarily improve health in advanced age

By Jim Fessenden, UMass Medical School Communications
January 22, 2015

	Heidi A. Tissenbaum, PhD

A study of long-lived mutant C. elegans by UMass Medical School scientists shows that the genetically altered worms spend a greater portion of their life in a frail state and exhibit less activity as they age then typical nematodes. These findings, published in the Proceedings of the National Academy of Sciences, suggest genes that increase longevity may not significantly increase healthy lifespan and point to the need to measure health as part of aging studies going forward.

“Our study reveals that if we want to find the genes that help us remain physically active as we age, the genes that will allow us to play tennis when we’re 70 similar to when we were 40, we have to look beyond longevity as the sole criteria. We have to start looking at new genes that might play a part in ‘healthspan.’” said Heidi A. Tissenbaum, PhD, professor of molecular, cellular & cancer biology and the program in molecular medicine and principal investigator of the study.

Genomic and technological advances have allowed scientists to identify several groups of genes that control longevity in C. elegans, a nematode used as a model system for genetic studies in the lab, as well as in yeast and flies. These genes, when examined, have analogs in mammals. The underlying assumption by scientists has always been that extending lifespan would also increase the time spent by the organism in a healthy state. However, for various reasons, most studies only closely examine these model animals while they’re still relatively young and neglect to closely examine the latter portion of the animals’ lives.

Challenging the assumption that longevity and health are intrinsically connected, Dr. Tissenbaum and colleagues sought to investigate how healthy long-lived C. elegans mutants were as they aged.

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[Press release] Genetic changes in Ebola virus could impede potential treatments

Thinking of my Liberia FB friends. One I met (he is a nurse) in 2009 while doing service projects in Liberia. He is a dean of a college near the capital (Monrovia)…while school is out, he is working with Doctors Without Borders in Monrovia.
Another is a former student of mine (1980/81…when I was a Peace Corps volunteer. He is now a Methodist deacon, in Ganta, the second largest city in Liberia. Ganta is 10 miles up the road from where I volunteered. Back in 2009, he recognized me in front of the church in Ganta, where we did some volunteer projects!
Third person is a health screener in Kpain, where I was a Peace Corps volunteer. He put in a FB friend request. He is from Nigeria.
These three men are among my heroes. They are doing so much with so little. Reaffirmed my belief that Liberians are resilient and creative.

USAMRIID Logo (Photo credit: Wikipedia)

Genetic changes in Ebola virus could impede potential treatments

 

Ebola Pathenogensis (Photo credit: Wikipedia

 

 

From the US Army Medical Research Institute of Infectious Diseases 20 January 2015 press release

 

Scientists studying the genetic makeup of the Ebola virus currently circulating in West Africa have identified several mutations that could have implications for developing effective drugs to fight the virus.

In today’s online edition of the journal mBio, senior author Gustavo F. Palacios, Ph.D., and colleagues describe the “genomic drift,” or natural evolution of the virus, and how it may interrupt the action of potential therapies designed to target the virus’s genetic sequence.

According to Palacios, who directs the Center for Genome Sciences at the U.S. Army Medical Research Institute of Infectious Diseases (USAMRIID), three types of genetic sequence-based treatments are being evaluated during the current outbreak: monoclonal antibody, small-interfering RNA (siRNA), and phosphorodiamidate morpholino oligomer (PMO) drugs. All were developed using Ebola virus strains from two smaller outbreaks that occurred in 1976 and 1995.

…

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