Foundation to Fight H-ABC, University of Massachusetts Medical School and Yale University Initiate Gene Therapy Study Targeting Cure for Rare Disease

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ROCKVILLE, Md., Oct. 13, 2020 /PRNewswire/ — Foundation to Fight H-ABC, a non-profit organization dedicated to increasing awareness and driving development of a cure for the degenerative children’s disease, H-ABC, today announced a sponsored research agreement with the University of Massachusetts Medical School and Yale University to advance a targeted gene therapy for H-ABC.

“We have high hopes to quickly prove efficacy with this approach to move research forward and find a permanent cure for this devastating disease,” said Michele Sloan, Co-Founder, Foundation to Fight H-ABC.

H-ABC (hypomyelination with atrophy of the basal ganglia and cerebellum) belongs to a group of conditions called leukodystrophies, diseases that affect the white matter of the brain. These diseases disrupt the growth or maintenance of the myelin sheath, a protective layer that insulates nerve cells and allows for the transmission of messages between cells.

Caused by a mutation in the TUBB4A gene, H-ABC is a rare genetic disorder that affects certain parts of the brain—specifically the basal ganglia and the cerebellum, which control movement. H-ABC targets these important structures, reducing both their size and function. As a result, children who suffer from H-ABC often experience motor problems, cannot walk, talk, or sit on their own. Currently, there is no known cure for this disabling and life-threatening condition.

The teams of Dr. Guangping Gao (University of Massachusetts Medical School) and Dr. Karel Liem (Yale School of Medicine) will combine extensive expertise in the fields of Adeno-associated virus (AAV), a platform for gene delivery for the treatment of a variety of human diseases and H-ABC disease models, to develop AAV vectors to silence or outcompete the mutated TUBB4A gene.

“To date, AAV-based gene delivery system is the vector of choice for in vivo gene therapy of many currently untreatable rare diseases including H-ABC,” said Guangping Gao,


Double jeopardy for ecologically rare birds and terrestrial mammals

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endangered species
Credit: Pixabay/CC0 Public Domain

Common assumptions notwithstanding, rare species can play unique and essential ecological roles. After studying two databases that together cover all known terrestrial mammals and birds worldwide, scientists from the CNRS, the Foundation for Biodiversity Research (FRB), Université Grenoble Alpes, and the University of Montpellier have demonstrated that, though these species are found on all continents, they are more threatened by human pressures than ecologically common species and will also be more impacted by future climate change. Thus, they are in double jeopardy. The researchers’ findings, published in Nature Communications (October 8, 2020), show that conservation programs must account for the ecological rarity of species.

It has long been thought that rare species contribute little to the functioning of ecosystems. Yet recent studies have discredited that idea: Rarity is a matter not only of the abundance or geographical range of a species, but also of the distinctiveness of its ecological functions. Because these functionally distinct species are irreplaceable, it is essential we understand their ecological characteristics, map their distributions, and evaluate how vulnerable they are to current and future threats.

Using two databases that collect information on the world’s terrestrial mammals (4,654 species) and birds (9,287 species), scientists from the FRB’s Center de Synthèse et d’Analyse de la Biodiversité (CESAB), CNRS research laboratories, Université Grenoble Alpes, the University of Montpellier, and partner institutes divided the earth’s surface into 50 × 50 km squares and determined the number of ecologically rare species within each. They showed that ecological rarity among mammals is concentrated in the tropics and the southern hemisphere, with peaks on Indonesian islands, in Madagascar, and in Costa Rica. Species concerned are mostly nocturnal frugivores, like bats and lemurs, and insectivores, such as small rodents. Ecologically rare bird species are mainly found in tropical and subtropical


Earth grows large crystals, rare elements in just minutes

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Oct. 7 (UPI) — Scientists have gained new insights into crystal growth rates inside pegmatites, veinlike formations that host some of the planet’s biggest crystals, as well as valuable elements such as tantalum, niobium and lithium.

Magma cooling time typically controls the size of crystals — when magma cools quickly, crystals remain microscopic, and when it cools slowly, crystals have time to grow.

But pegmatite crystals appear to upend this logic, researchers said in a study published this week in the journal Nature Communications.

“Pegmatites cool relatively quickly, sometimes in just a few years, and yet they feature some of the largest crystals on Earth,” Cin-Ty Lee, professor of geology at Rice University, said in a news release. “The big question is really, ‘How can that be?'”

To determine the growth rates of pegmatite crystals, scientists turned to the rare elements that are often found inside pegmatites.

“It was more a question of, ‘Can we figure out how fast they actually grow?'” said Rice graduate student Patrick Phelps. “Can we use trace elements — elements that don’t belong in quartz crystals — to figure out the growth rate?”

After surveying dozens of scientific papers on the chemistry of crystal formation and closely examining a variety of crystals from a pegmatite mine in Southern California, researchers developed a formula for translating chemical profiles into crystal growth rates.

“We examined crystals that were half an inch wide and over an inch long,” Phelps said. “We showed those grew in a matter of hours, and there is nothing to suggest the physics would be different in larger crystals that measure a meter or more in length. Based on what we found, larger crystals like that could grow in a matter of days.”

Pegmatites are formed when pieces of Earth’s crust are pulled down


Kyler Murray has accomplished a rare feat, twice in his career

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At a time when many remain focused on the extent to which the Saints are, or aren’t, throwing the football down the field, a much younger quarterback than Drew Brees has made a strange kind of history early in that quarterback’s career.

Via Scott Kacsmar, Cardinals quarterback Kyler Murray has generated two of the four lowest passing yardage performances with 24 or more completions since 1950.

Murray’s performance against the Panthers, during which he generated 133 yards on 24 completions, ranked No. 1 on the list.

Video: Kyler Murray (Yahoo! Sports)

Murray also lands at No. 4, thanks to a Week 11 performance against the 49ers during which he generated 150 yards on 24 completions.

At No. 2? Shane Matthews from 2001, at 138 yards on 24 completions in a Bears’ loss to Baltimore. Third on the list is J.P. Losman, who had 148 yards on 24 completion in a Bills loss to the Jets.

Not surprisingly, each of the quarterbacks in the top four spots for lowest yardage on 24 or more completions saw their teams lose. After the Cardinals started 2-0, they’ve now lost two in a row. If they don’t start pushing the ball down the field more effectively, there will be more losses than wins over the balance of the season.

Kyler Murray has accomplished a rare feat, twice in his career originally appeared on Pro Football Talk

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Rare shot of a moonbow and auroras from Alberta goes viral

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Rare shot of a moonbow and auroras from Alberta goes viral
Rare shot of a moonbow and auroras from Alberta goes viral
Team tanner - moonbow and auroras
Team tanner – moonbow and auroras

Courtesy: Theresa and Dar Tanner

Sky-watchers in southern Alberta were treated to a spectacle Sunday night, with bright auroras dancing across the sky.

And that’s not all.

One image — featuring an elusive ‘moonbow’ alongside the auroras has gone viral.

“A moonbow is, essentially, a lunar rainbow which is seen at night, as the light from the Moon is backscattered by water droplets or raindrops,” explains Weather Network science writer Scott Sutherland.

“Basically, moonlight is entering one side of a water droplet or raindrop, it is refracted off the inside surface of the opposite side of that droplet or raindrop, so that it exits out of the droplet or raindrop back in the direction from where it came, and then it is picked up by our eyes (or a camera),” he writes.

This particular moonbow was captured around 11:15 p.m. Sunday in Castor, Alberta by Theresa and Dar Tanner.

Here’s another shot, taken on the same night by the Tanners:


According to Theresa and Dar, auroras aren’t common in the area.

“In our eight years chasing the aurora we have never seen a moonbow,” they tell The Weather Network in an email.

“With the equinox, we should start to see more aurora activity, and also the nights are getting darker, making it easier to see them.”

The Tanners are seasoned aurora chasers. Their plans to fly to Yellowknife in September were cancelled due to COVID-19, but last year the pair travelled to Iceland to chase the lights.

Their one tip of advice for aurora watchers?

“Be patient, very patient. It will pay off once you see the lights dancing!”

It also doesn’t hurt to monitor the weather for optimal viewing

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