Gene therapy treats blindness

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For patients with choroideremia a rare form of progressive blindness there are no current treatment options that can help stop their visual degeneration. But now a new innovative procedure may be the key.

In a new study published in The Lancet, researchers used a novel gene therapy technique on choroideremia patients, which helped restore some of the sight they had already lost over the years. Gene therapy involves injecting patients with a vital gene that is either missing or defective in their genetic code.

Gene therapy is exciting; its a new type of medicine, lead author Robert MacLaren, a professor at the University of Oxford, told FoxNews.com. And what were doing is it on a very small scale, because were looking at a very straightforward gene to replace.

Caused by a mutation in the CHM gene on the X chromosome, choroideremia causes progressive blindness due to degeneration of the choroid, retinal pigment epithelium and retina. Patients with this disease can start their lives with perfect vision, but eventually start to experience problems with light sensitivity and peripheral vision as they age.

The condition, which affects 1 in every 50,000 people, ultimately leads to the death of the photoreceptor cells in the retina causing complete blindness in middle age.

Its like looking down through a telescope at a small central island of vision, MacLaren explained of the disorder. And by the time theyre in their 40s and 50s, they lose vision completely.

Because choroideremia is caused by a defect in a single gene, MacLaren believed that gene therapy could hold promise for patients with this form of progressive blindness. Additionally, because the cellular degeneration occurs so slowly, the researchers had a large window of opportunity in which they could test their treatment before complete visual loss occurred.

In order to fix the mutation found in choroideremia patients, MacLaren and his colleagues genetically altered an adeno-associated virus (AAV), so that it carried a corrective copy of the CHM gene.

The virus is a small biological organism, and its very good at getting into cells, MacLaren said. But rather than deliver the viruss DNA, weve taken out most of the viral DNA and instead put in the missing gene. So it releases the DNA into the nucleus its a single stranded DNA with the missing [CHM] gene.

The researchers injected their engineered virus into the retinas of six patients between the ages of 35 and 63, all of whom were experiencing different stages of choroideremia. Four of the patients still had good eyesight, though they had almost no peripheral vision, and the other two patients had already started to experience vision loss.

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Gene therapy treats blindness

Gene Therapy Tested as a Way to Stop Blindness

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By delivering gene therapies to patients before they go blind, doctors may be able to prevent the loss of many important light-detecting cells.

Light preserver: Robert MacLaren performs retinal surgery on a patient participating in a gene therapy experiment at the Oxford University Eye Hospital.

A new kind of gene therapy has reversed some vision loss in people born with a degenerative eye disease for which there is no existing treatment.

In a first for the field, the treatment can be given to some participants who still had 20/20 vision, albeit in a limited field of vision. By delivering gene therapy at an earlier stage, researchers hope to save more light-sensing cells in the retina.

We need to push gene therapy forward, to apply it before vision is gone, says Robert MacLaren, an ophthalmologist at the University of Oxford who led the study. When retinal damage gets to a certain point, its beyond repair.

MacLaren says earlier treatment could also be particularly important for conditions such as retinitis pigmentosa and age-related macular degeneration.

The surgical procedure employed put the precious remaining vision of patients in the trial at risk because it involved detaching delicate retina tissue in one of each participants eyes, but so far no problems have occurred since that surgery, the researchers report. Some participants report that theyre now able to detect more light, read more letters and numbers, and even see the stars at night. One patient, who before his treatment could not read any lines on an eye chart with his most affected eye, was able to read three lines with that eye following his treatment.

The condition addressed in the work is choroideremia, an eye disease that affects an estimated one in every 50,000 people. Because the gene that causes this disease is on the X chromosome, it primarily affects males. Starting in late childhood usually, the condition causes progressive narrowing or tunneling of vision and often ends in blindness. The condition gradually wipes out the light-detecting rods and cones in the retina.

The experimental treatment adds a working copy of the culpable gene to the retinal cells of patients born with a defective copy. The trial also involved an experimental way of delivering gene therapy to the eye. Each patients retina was first lifted, and the gene therapy was injected into the space created under the retina. MacLaren and colleagues report on the condition of six patients in a study published on Wednesday in the Lancet.

Other groups are also developing gene therapies for retinal diseases. This includes a group at Childrens Hospital of Philadelphia, which recently funded a new company to continue human trials of a treatment for Lebers Congenital Amaurosis, another inherited form of retinal degeneration (see New Gene Therapy Company Launches).

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Gene Therapy Tested as a Way to Stop Blindness

Gene therapy improves vision for some with rare disease

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Two adults with a rare disease that causes gradual loss of eyesight had their vision improved after being treated with a new gene therapy, according to preliminary results from a new study.

The study involved six patients ages 35 to 63 with choroideremia, an inherited condition with no cure that causes vision problems early in life, and eventually leads to blindness. Patients have a mutation in a gene called CHM, which causes light-sensitive cells in the eye to slowly stop working.

The goal behind the new gene therapy is to use a safe virus to deliver a working copy of the gene to the right part of the eye to prevent the cells from degenerating. [7 Diseases You Can Learn About From a Genetic Test]

The new study was an early test of the therapy in which the researchers aimed to carry out the treatment without causing damage to the eye. (Patients must have an eye surgery so that the virus can be injected under the retina with a fine needle).

The result showed that the treatment did not cause harm, and in fact, improved vision in a few of the patients.

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Six months after the treatment, four patients recovered the visual acuity (clearness or acuteness of vision) that they had before the surgery, and developed increased sensitivity to light. And two patients had improvements in vision: They were able to read two to four more lines on a sight chart.

"We did not expect to see such dramatic improvements in visual acuity," study researcher Robert MacLaren, of the Nuffield Laboratory of Ophthalmology at the University of Oxford in the U.K., said in a statement. It is still too early to know if the improvements will last, but they have so far been maintained for as long as two years, MacLaren said.

The study is the first to test gene therapy in patients before they'd experienced significant thinning of the retinal cells, MacLaren said.

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Gene therapy improves vision for some with rare disease

Gene therapy has clear results for seeing-impaired

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62-year-old Jonathan Wyatt was diagnosed at age 20 with choroideremia, a rare genetic disorder that causes progressive blindness. In recent years, he was unable to read. He was one of six patients in the gene therapy trial.

Jonathan Wyatt was diagnosed at age 20 with choroideremia, a rare genetic disorder that causes progressive blindness

CBS News

People with the disease lack a gene that helps the eye make a protein needed for normal vision. When scientists injected a copy of that gene into the eye, the retinal cells started producing the protein. All six patients had improved vision and two, including Wyatt, had dramatic results.

Robert Maclaren of Oxford University led the study.

Rather than taking a pill or proteins or tablets, were actually correcting the disease at the genetic level, Maclaren said. In other words, genetically modifying the patients who have the problems to put the gene back thats missing.

"Well, this is a game changer because this is something that's been hypothesized and worked on for almost two decades, Schwartz told CBS News. The eye is the perfect organ into which gene therapy can begin to be successful because it's small, the amount of medication that needs to go into the eye is low, it's relatively safe.

One way this therapy could be useful in patients with macular degeneration is to eliminate the need for monthly injections of drugs into the eye. A single gene treatment could teach the eye to produce the medicine itself, but more testing is needed.

2014 CBS Interactive Inc. All Rights Reserved.

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Gene therapy has clear results for seeing-impaired

Gene therapy breakthrough in blindness research

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Thursday 16 January 2014 19.26

Pioneering gene therapy has restored vision to two men with a rare inherited eye disease who were told to expect to go blind.

Scientists hope early intervention with the surgical treatment will halt progression of the devastating disorder, choroideremia, before patients are robbed of their sight.

It is the first time gene therapy has successfully been applied to the light-sensitive photoreceptors of the retina, the digital camera at the back of the eye.

Preliminary results from the first six patients taking part in a Phase One trial surprised and delighted the Oxford University team.

Although the trial was only designed to test safety and dosages, two men with relatively advanced disease experienced dramatic improvements to their eyesight.

The researchers are now planning a larger Phase II trial that will focus on the therapy's effectiveness.

Professor Robert MacLaren, who led the gene therapy operations at Oxford Eye Hospital, said: "We're absolutely delighted with the results so far.

"It is still too early to know if the gene therapy treatment will last indefinitely, but we can say that the vision improvements have been maintained for as long as we have been following up the patients, which is two years in one case.

"In truth, we did not expect to see such dramatic improvements in visual acuity and so we contacted both patients' home opticians to get current and historical data on their vision in former years, long before the gene therapy trial started.

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Gene therapy breakthrough in blindness research

Futurist: No Chinese democracy

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'Clean'?

Clean. So Lee says, "OK guys, we have nothing, we are going to start now, there is one thing that is important: clean. You have to be clean. You have to brush your teeth, wash your hands, clean your room. Clean. I want the street to be clean. I want the school to be clean, everything to be clean." So that's the core, the center.

Around clean you start getting discipline. Aha! Discipline. So even today people complain, say, "Ah, Singapore is not a democracy. You cannot chew gum. It's illegal to chew gum."

So I did a lot of work over there, and when I study with young people, I tell them when they come in, "In other parts of the world, they say that in Singapore you cannot chew gum." And younger women18, 19they say, "Yes, but at 2 o'clock in the morning we can walk back home and we never have a problem." So the trade-off is do you want to chew gum or to be attacked when you go back home?

Will China live up to its promise 25 years from now?

I'm not sure. I'm not sure, because part of the Chineseyou know, my work is to study the collective unconscious. The way cultures and their conscious shape the future. When you react as a Chinese, you don't react as a Japanese, and you don't react as an Indian or a Brazilian. But China will never be a democracy, I'm convinced of that.

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Futurist: No Chinese democracy

More Four Tet x Terror Danjah Details

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Four Tet has incredible ears.

So, in a way, it was inevitable that Kieran Hebden would be seduced by grime, by its aggressive, heavily-layered futurism. Communicating with fans via Twitter, Four Tet confirmed late last year that a number of collaborations were at the planning stages.

Amongst them was a grime track with Terror Danjah - arguably one of the genre's defining instrumental voices. Since then, fans have been desperate for more details.

Yesterday (January 15th) Kieran Hebden tweeted that the tracks would be titled 'Killer' and 'Nasty' respectively. Four Tet has since deleted the tweet, but since Terror Danjah's long term home Hyperdub has social networked the news Clash presumes that it is legitimate.

Due for release via Hebden's own Text Records imprint, 'Killer' b/w 'Nasty' is set to follow the upcoming reissue of Crazy Bald Heads First Born.

(via FACT)

Fancy some archive Terror Danjah to keep you going? Check out his archive Clash mix - packed full of 140 invention and aimed straight at the floor.

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More Four Tet x Terror Danjah Details

COUNTDOWN: Nelson Mandela’s Legacy and the Unfinished Struggle for Freedom in Africa – Video

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COUNTDOWN: Nelson Mandela #39;s Legacy and the Unfinished Struggle for Freedom in Africa
Dr Gnaka Lagoke, an African scholar and political analyst, founder of the Revival of Panafricanism Forum, discusses the legacy of Nelson Mandela and the unfi...

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COUNTDOWN: Nelson Mandela's Legacy and the Unfinished Struggle for Freedom in Africa - Video

Assassin’s Creed 4 Black Flag: Freedom Cry – Part 6 – Lifting the Veil (PS4) – Video

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Assassin #39;s Creed 4 Black Flag: Freedom Cry - Part 6 - Lifting the Veil (PS4)
Hey everyone, welcome to my play through of the Freedom Cry DLC from the game Assassin #39;s Creed 4 Black Flag. If you would like to keep up with me please be s...

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Assassin's Creed 4 Black Flag: Freedom Cry - Part 6 - Lifting the Veil (PS4) - Video

Freedom fest honors another king

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JONATHAN TAKIFF, Daily News Staff Writer takiffj@phillynews.com, 215-854-5960 Posted: Thursday, January 16, 2014, 12:16 AM

WHO'S OCTAVIUS V. Catto? Why is the Mann Center for the Performing Arts launching the first Philadelphia Freedom Festival in his honor, starting next month and culminating with a big concert in July featuring newly commissioned music by Uri Caine, performances by gospel great Dr. Marvin Sapp, a 300-voice choir and the Philadelphia Orchestra?

Ask the average older guy on the street, and he might remember, painfully, a school in West Philadelphia formerly named for Catto (pronounced "Cat-oh").

"It was a place they sent you if you were a bad kid," shared Daniel Biddle, co-author with Murray Dubin of the 2010 biography Tasting Freedom: Octavius Catto and the Battle for Equality in Civil War America.

"The name was used by parents and teachers as a threat. 'That's where you're going to wind up, at Catto,' " said Biddle, an editor at the Inquirer, which, like the Daily News, is owned by Interstate General Media. (The school was later renamed to honor singer/activist Paul Robeson.)

"We were looking to do something special, community-based, timed to this year's 50th anniversary of the passage of the Civil Rights Act, and Catto's name came up, suggested by someone who'd read Tasting Freedom," said Cahill.

"Catto was truly a Renaissance man," added Williams, citing his accomplishments as an educator, athlete, patriot and activist.

Catto took a leadership role in recruiting the first African-American regiments in the previously all-white Union Army of the Civil War. He integrated trolley cars in Philadelphia; and organized and played in Philadelphia's Negro Baseball League team, which had the balls (bats and gloves) to take on white teams.

Leading a high-profile civil rights march, Catto brought thousands of protesters to Broad Street "right here in front of the Union League," noted Dubin, gazing out the club's windows.

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Freedom fest honors another king

Freedom breaks silence, blames leak on freeze

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Nearly a week after Freedom Industries last spoke publicly, the company broke its silence Thursday evening, proposing a theory that its "Crude MCHM" chemical leak was caused, in part, by a broken water pipe uphill from its property, according to a source close to the company who demanded anonymity.

CHARLESTON, W.Va. -- Nearly a week after Freedom Industries last spoke publicly, the company broke its silence Thursday evening, proposing a theory that its "Crude MCHM" chemical leak was caused, in part, by a broken water pipe uphill from its property, according to a source close to the company who demanded anonymity.

The source said water from the broken pipe flowed under the tank farm, then froze during the recent cold temperatures and expanded, puncturing the tank from below.

"It looks like somebody took a sharp object and stuck it through the bottom," the source said.

He said that even though the tanks were surrounded by a concrete retaining wall, they were sitting on gravel, so the chemical leak seeped through the gravel, into the ground and under the wall.

State officials have described the retaining wall as shoddy and in need of repair. A representative with the Chemical Safety Board, which is inspecting the site, said Thursday that the tank sits on a concrete pad and the soil that surrounds the pad.

West Virginia American Water replaced a leaking water line along Barlow Drive on Tuesday and Wednesday, according to a water company spokeswoman. Barlow Drive is where Freedom's tank farm is located.

The leak of Crude MCHM, a coal-processing chemical, contaminated the Elk River and the drinking water of 300,000 residents of the Kanawha Valley.

The Freedom source also attributed blame to what he called a very old terra cotta culvert that runs beneath Freedom's property and helped provide an avenue for the water to collect beneath the tank.

"No one is saying that this is absolutely how it happened," he said, "but there are photos of the inside of the tank that clearly show the upward puncture."

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Freedom breaks silence, blames leak on freeze

Snowden named to Freedom of the Press Foundation board of directors

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WASHINGTON, Jan. 15 (UPI) -- Edward Snowden, who leaked information on the huge U.S. surveillance programs, will join the Freedom of the Press Foundation board, the organization said.

"I am proud and honored to welcome Edward Snowden to Freedom of the Press Foundation's board of directors. He is the quintessential American whistle-blower, and a personal hero of mine," said foundation co-founder Daniel Ellsberg, who leaked the Pentagon Papers on the U.S. government's decision-making relative to the Vietnam War.

"Leaks are the lifeblood of the republic and, for the first time, the American public has been given the chance to debate democratically the NSA's [National Security Agency] mass surveillance programs," Ellsberg said in a release Tuesday. "Accountability journalism can't be done without the courageous acts exemplified by Snowden, and we need more like him."

The Freedom of the Press Foundation was founded in 2012 to support public-interest journalism dedicated to transparency and accountability.

Snowden, living in Russia after he was granted temporary asylum in August, said it was "tremendously humbling to be called to serve the cause of our free press, and it is the honor of a lifetime to do so alongside extraordinary Americans like Daniel Ellsberg on FPF's board of directors."

"The unconstitutional gathering of the communications records of everyone in America threatens our most basic rights, and the public should have a say in whether or not that continues," Snowden said. "Thanks to the work of our free press, today we do, and if the NSA won't answer to Congress, they'll have to answer to the newspapers, and ultimately, the people."

Snowden will officially join the board of directors in February 2014.

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Snowden named to Freedom of the Press Foundation board of directors

MLK Day Freedom Train hurting for riders

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Monday will mark the 30th time the Freedom Train has carried people up the Peninsula to San Francisco to commemorate Martin Luther King Jr.'s famous civil rights march from Selma to Montgomery, Ala. - but unless it attracts more riders, this may be the last trip.

Only 300 people have bought tickets for Monday's ride, organizers said Thursday. The train has been drawing several hundred fewer passengers in recent years than its 1,600 capacity, but this is the most drastic drop-off yet.

"There won't be a train next year if we can't pack the train on Monday," said Kathleen Flynn, president of the group that organizes the ride, the Dr. Martin Luther King Jr. Association of Santa Clara Valley. "We just can't keep running it with so few people."

Last year the train drew 1,200 passengers. It had been pulling full loads most years until the NAACP chapter in San Jose withdrew its support in 2010 in protest of the train group taking donations from San Jose police officers.

The chapter's president cited media reports alleging misconduct toward minorities by San Jose police, and told The Chronicle at the time, "You don't honor someone just because they give you money."

Some members of the NAACP continued to take the train anyway, but ridership hasn't fully recovered. The NAACP didn't issue any statement actively opposing the train this year, but is continuing to withhold its support - and this time, it is for a different reason.

The Rev. Jethroe Moore II, the chapter's president, said he's now unhappy with the train organization because it is too friendly with San Jose city leaders who are trying to cut public-safety employees' pensions. He'd also like to see it become more active on a wider range of civil rights concerns.

"I would love to see us all get on the page and fight for the citizenry of Santa Clara County," Moore said. "But I'll be very honest - the current board seems to be manipulated."

He added, "I would be sad to see this train end."

Flynn said the NAACP's concerns are misplaced and that she hoped the groups could work out their differences.

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MLK Day Freedom Train hurting for riders