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Similarities Unite Three Distinct Gene Mutations Of Treacher Collins Syndrome

Cell death (labeled in red) within the neural crest cell progenitor population results in a reduced population of neural crest cells (labeled in green) in a polr1d mutant zebrafish embryo. Photo Credit: Courtesy of Trainor Lab.

Cell death (labeled in red) within the neural crest cell progenitor population results in a reduced population of neural crest cells (labeled in green) in a polr1d mutant zebrafish embryo.
Photo Credit: Courtesy of Trainor Lab.

Scientists at the Stowers Institute for Medical Research have reported a detailed description of how function-impairing mutations in polr1c and polr1d genes cause Treacher Collins syndrome (TCS), a rare congenital craniofacial development disorder that affects an estimated 1 in 50,000 live births.

Collectively the results of the study, published in the current issue of PLoS Genetics, reveal that a unifying cellular and biochemical mechanism underlies the etiology and pathogenesis of TCS and its possible prevention, irrespective of the causative gene mutation. Read More.

Published by Stowers Institute For Medical Research July 26, 2016

Reopening avenues for attacking ALS

In the murine spleen, lymphoid tissue (purple) is responsible for launching an immune response to blood-born antigens, while red pulp (pink) filters the blood. Mutations in the C9ORF72 gene, the most common mutation found in ALS patients, can inflame lymphoid tissue and contribute to immune system dysfunction. align=

Photo courtesy of Dan Mordes, Eggan lab, Harvard Stem Cell Institute

Harvard Stem Cell Institute (HSCI) researchers at Harvard University and the Broad Institute of Harvard and MIT have found evidence that bone marrow transplantation may one day be beneficial to a subset of patients suffering from amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disorder more commonly known as Lou Gehrig’s disease.

In the photo of the murine spleen shown, lymphoid tissue (purple) is responsible for launching an immune response to blood-born antigens, while red pulp (pink) filters the blood. Mutations in the C9ORF72 gene, the most common mutation found in ALS patients, can inflame lymphoid tissue and contribute to immune system dysfunction.

ALS destroys the neurons connecting the brain and spinal cord to muscles throughout the body. As those neurons die, patients progressively lose the ability to move, speak, eat, and breathe. Read More.

Published by EurekAlert! July, 21 2016

Use it or Lose it: Visual Activity Regenerates Neural Connections Between Eye and Brain


Regenerating mouse retinal ganglion cell axons (magenta and green) extending from site of optic nerve injury (left). Photo courtesy of Andrew D. Huberman.

NIH-funded mouse study is the first to show that visual stimulation helps re-wire the visual system and partially restores sight.

A study in mice funded by the National Institutes of Health (NIH) shows for the first time that high-contrast visual stimulation can help damaged retinal neurons regrow optic nerve fibers, otherwise known as retinal ganglion cell axons. In combination with chemically induced neural stimulation, axons grew further than in strategies tried previously. Treated mice partially regained visual function. The study also demonstrates that adult regenerated central nervous system (CNS) axons are capable of navigating to correct targets in the brain. The research was funded through the National Eye Institute (NEI), a part of NIH. Read More.

Published by National Eye Institute July 16, 2016

Do Politics Trump Chimpanzee Well-being? Questions Raised About Deaths of US Research Chimpanzees at Federally-Funded Sanctuary

Photo Credit: Kathy West

Photo Credit: Kathy West

A number of countries have ended some types of research with chimpanzees over the past decades. For example, the US National Institutes of Health announced in November 2015 that it would no longer support many types of chimpanzee research. In Europe, the fate of former research chimpanzees has depended upon a mix of private wildlife parks and zoos for the animals’ care and management. The outcomes in term of chimpanzee health and survival remain relatively unknown. Read More.

Published by Speaking of Research July 14, 2016

Flies sleep just like us. And they might help give humans a good night’s rest

Fly NewsSleep is a mystery. It’s essential — without enough sleep, we die — and yet scientists still aren’t sure why we need it.But the how of sleep is just as intriguing as the why.

Amita Sehgal, a sleep researcher at the University of Pennsylvania, has discovered some of the key genes that control our 24-hour circadian cycle, making us fall asleep at night and rise again in the morning. Sehgal didn’t find these genes in people, however. She found them in flies. Read More.

Published by Stat News July 3, 2016

Monkey study shows Zika infection prolonged in pregnancy

A vacuum tube holds a blood-fed strain of Aedes aegypti mosquito in place under a microscope in a research lab insectary in the Hanson Biomedical Sciences Building at the University of Wisconsin-Madison on May 17, 2016. Matthew Aliota, assistant scientist in the Department of Pathobiological Sciences in the School of Veterinary Medicine, is studying the insect as part of his research about mosquito-borne pathogens such as the Zika virus, dengue fever and yellow fever infections. (Photo by Jeff Miller/UW-Madison)

Photo Credit by Jeff Miller/UW-Madison

University of Wisconsin–Madison researchers studying monkeys have shown that one infection with Zika virus protects against future infection, though pregnancy may drastically prolong the time the virus stays in the body.

The researchers, led by UW–Madison pathology Professor David O’Connor, published a study today (June 28, 2016) in the journal Nature Communications describing their work establishing rhesus macaque monkeys at the Wisconsin National Primate Research Center as a model for studying the way Zika virus infections may progress in people. Read More 

Published by University of Wisconsin – Madison June 28, 2016

HIV Vaccine Developed Through Primate Centers Collaboration

HIV-1Moving towards human clinical trials

Over the past 6 years, Drs. Peter Barry and Alice Tarantal, California National Primate Research Center (CNPRC) at UC Davis, have been collaborating with Dr. Louis Picker at Oregon Health Science University (OHSU)–Oregon NPRC to develop and test a vaccine and potential cure for HIV. OHSU is now recruiting volunteers to be part of the first human trials for this exciting new development in the prevention and treatment of HIV. Read More.

Published by California National Primate Research Center – UC Davis June 10, 2016

We mightn’t like it, but there are ethical reasons to use animals in medical research

10764885 - white laboratory mice tries to escape from a holding deviceThe media regularly report impressive medical advances. However, in most cases, there is a reluctance by scientists, the universities, or research institutions they work for, and the media to mention animals used in that research, let alone non-human primates. Such omission misleads the public and works against long-term sustainability of a very important means of advancing knowledge about health and disease.

Consider the recent report by Ali Rezai and colleagues, in the journal Nature, of a patient with quadriplegia who was able to use his hands by just thinking about the action. The signals in the brain recorded by implanted electrodes were analysed and fed into the muscles of the arm to activate the hand directly. Read More.

Published on May 25, 2016 by The Conversation

HPV vaccines and cervical cancer – a success in animals is a success for humans

vaccination_art_writA recent article in the journal Pediatrics reported that vaccination against human papilloma virus (HPV) resulted in a 64% reduction in infections in girls aged 14-19.

The vaccine, Gardasil, came onto market in June of 2006 and protects again four different HPV types: the two most prevalent high-risk viruses, HPV16 and HPV18, and the two most common causes of benign genital warts, HPV6 and HPV11. Protection against HPV16 and HPV18 is particularly important to human health given that these viruses are responsible for 70% of cervical cancers in women – a cancer which caused 270,000 deaths in 2012. The effectiveness of the HPV vaccine is excellent news in our quest to reduce the deadly toll of cervical cancer, and received widespread coverage in the mainstream media. Read More.

Published by Speaking of Research February 23, 2016

Pill prevents Type 1 Diabetes from developing in mice


This image shows a mouse’s pancreatic cells, which have produced insulin (stained brown). The mouse, which was engineered to develop type 1 diabetes, was treated with hymecromone for seven weeks. (JCI) Photo courtesy of The Verge

Type 1 diabetes is an autoimmune wikipediadisorder that shuts down the body’s production of insulin. This pill blocks the buildup of a specific acid in the pancreas, which then stops the disorder from taking hold, according to research published this week in the Journal of Clinical Investigation.

Type 1 diabetes is an autoimmune disorder that shuts down the body’s production of insulin. Normally, insulin is made by beta cells in the pancreas; it’s a hormone that’s important for converting the sugars we eat into energy. But for patients with type 1 diabetes, the body’s immune system destroys the pancreatic beta cells, effectively halting insulin production. The condition is different from type 2 diabetes, where the body doesn’t produce enough insulin or the insulin stops working properly. Type 1 diabetes, usually diagnosed during childhood or adolescence, affects more than 1.25 million Americans. Read More.

Published by The Verge September 14, 2015