Category Archives: Transhuman News

FRESNO, Calif. (KFSN) --

Six-year-old Andy Moorhead is learning how to read. But instead of using his eyes, he's using his fingers. Andy told ABC30, "Well, I read the letters with my fingers."

Andy is blind. Andy's Mother, Heather Ingram-Moorhead explained, "He was around nine months, and we started to notice his eyes were twitching."

Andy has leber congenital amaurosis, or LCA. It's the most common type of childhood blindness and is caused by genetic mutations.

"It is just very hard. It's taken us a while to really understand the condition and do everything to help Andy," Heather told ABC30.

Andy's whole family is hands-on. Even his sister Valerie gives him guidance. But despite their efforts, his mom says gene therapy is their only hope.

University of Florida scientist Shannon E. Boye, PhD, is using a $900,000 grant to perfect a gene therapy that could restore vision.

"It's not an attempt just to slow the progression of the disease. It's actually an attempt to halt the progression and make the patient better by delivering them the gene they don't have," Boye told ABC30.

Boye says the therapy has worked in animals. "We're able to show, via what's called an electra retinal gram, that the retinal function has been restored to the mice," she explained.

Gene therapy is still an investigational treatment with risks and only available for those in a clinical trial. Right now there are hundreds of studies underway to treat conditions like LCA, cancer and HIV. It's hope that one day Andy could put down his cane and see his family for the first time.

Link:
Gene therapy: Hope for the blind?

Researchers at the Veterans Affairs San Diego Healthcare System and University of California, San Diego School of Medicine, with colleagues in New York and the United Kingdom, have identified genetic markers, derived from blood samples that are linked to post-traumatic stress disorder (PTSD). The markers are associated with gene networks that regulate innate immune function and interferon signaling.

The findings, published in the March 10 issue of the journal Molecular Psychiatry, offer novel insights into the pathophysiology of PTSD. In clinical terms, researchers say they could lead to new ways to not just improve diagnosis and treatment of persons with the mental health condition, but predict who might be more susceptible.

Previous genomic studies of PTSD have focused upon identifying differences in gene expression between persons with PTSD relative to a control group. The new study takes a broader "systems-level approach," using whole transcriptome RNA sequencing, said first author Michael S. Breen, PhD, at the University of Southampton in England.

"By comparing U.S. Marines who develop PTSD symptoms to those who do not, we can measure differences in genes, but also take into consideration the dynamic relationships between and among them, their connectivity," Breen said. "Because PTSD is thought to be such a complex disorder, measuring these dynamic relationships is crucial to better understanding the PTSD pathology."

The researchers analyzed blood samples from 188 U.S. Marines, taken before and after deployment to conflict zones. They identified modules of co-regulated genes involved in innate immune response - the body's first line of defense against pathogens - and interferon signaling, that were also associated with PTSD. Interferons are proteins released by host cells in response to the presence of pathogens and in this study are also shown to partake in the pathology PTSD.

The results were replicated with a second, completely independent group of 96 U.S. Marines.

"What's interesting is that molecular signatures of innate immunity and interferon signaling were identified both after developing PTSD as well as before developing PTSD," said Dewleen G. Baker, MD, MRS-II principal investigator, research director at the VA Center of Excellence for Stress and Mental Health, and professor in the Department of Psychiatry at UC San Diego.

The work, a sub-study of MRS-II, was co-led by Caroline M. Nievergelt, PhD, associate chief of the Neuroscience Unit at the VA Center of Excellence for Stress and Mental Health and assistant adjunct professor in the Department of Psychiatry at UC San Diego and the late Daniel T. O'Connor MD, departments of Medicine and Pharmacology at UC San Diego.

"The question to ask is what's stimulating an interferon response prior to PTSD development," said Baker. "The answer could be any number of factors, ranging from a simple explanation of increased anticipatory stress prior to deployment or more complex scenarios where individuals may have a higher viral load. It's a question for future studies."

Experts say what makes PTSD different - and more challenging to study - than other psychiatric disorders is the presence or trigger of a traumatic event, such as serving in a combat zone.

Continued here:
Gene networks for innate immunity linked to PTSD risk