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View Full Version : Mary Ingalls blindness - not caused by Scarlet fever!



Adelaide
02-10-2013, 05:20 PM
What could have caused Mary’s blindness? The possibilities were too overwhelming, from infectious diseases to biological conditions to genetic mutations that physicians at the time could never have considered. So Tarini set aside her research for 10 years. It collected dust in the corner of her office until she unearthed it recently.

Tarini’s graduate student, Sarah Allexan — now a medical student at the University of Colorado — shouldered the challenge of solving the mystery. Allexan rifled through newspapers from the time of Mary’s illness and sifted through the registry at the Iowa School for the Blind that she’d attended. The school’s documents said that Mary had suffered “brain fever,” a common term for encephalitis or meningitis in that era.

With multiple sources casting doubt on the scarlet fever diagnosis, Tarini concluded that the association was simply wrong: perhaps Wilder was misinformed or maybe she’d been pressured by her editor to blame scarlet fever since it was one of the best-known causes of childhood death during that time.

It’s even possible that Wilder was influenced by another classic, Little Women, which was written in the 1860s. In that tome, Beth, one of the sisters, succumbs to scarlet fever.
“It was a very deadly disease of childhood,” says Tarini. “People probably thought if it could kill you, it could make you go blind.”

Ultimately, Tarini decided that either meningitis or encephalitis were the culprits. Not only were they alluded to by the School of the Blind, but they both can result in fever and headache, and they both can inflame facial nerves, which could potentially cause gradual blindness.


Read more: http://healthland.time.com/2013/02/07/what-really-made-mary-on-little-house-on-the-prairie-go-blind/#ixzz2KXNGrilb



I read the books as a kid, and actually had scarlet fever when I was about 8 years old, (and we did worry I would go blind based on these sorts of tales). Turns out, according to research, that Mary Ingalls likely had encephalitis or meningitis! Pretty cool that they were able to figure that out so far after it took place.

waltky
10-09-2017, 11:08 PM
FDA Panel Considers Gene Therapy for Blindness...
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Seeing Hope: FDA Panel Considers Gene Therapy for Blindness
October 09, 2017 - A girl saw her mother's face for the first time. A boy tore through the aisles of Target, marveling at toys he never knew existed. A teen walked onto a stage and watched the stunned expressions of celebrity judges as he wowed America's Got Talent. Caroline, Cole, Christian. All had mere glimmers of vision and were destined to lose even that because of an inherited eye disease with no treatment or cure. Until now.


On Thursday, U.S. Food and Drug Administration advisers will consider whether to recommend approval of a gene therapy that improved vision for these three youths and some others with hereditary blindness. It would be the first gene therapy in the U.S. for an inherited disease, and the first in which a corrective gene is given directly to a patient. Only one gene therapy is sold in the U.S. now, a cancer treatment approved in August that engineers patients' blood cells in the lab.


A hearing like no other


Children, parents, doctors and scientists will tell the FDA panel what it's like to lack and then gain one of our most primal senses. Cole Carper, an 11-year-old boy who got the therapy when he was 8, describes how sight changed what he knew of the world. When he returned to his home in Little Rock, Arkansas, after treatment, "I looked up and said, 'What are those light things?' And my mom said, 'Those are stars."'



https://gdb.voanews.com/A429ED1D-37F6-4012-9ABE-DC86C42A81E6_w650_r0_s.jpg
Beth Guardino, left, and her son, Christian, talk about the 17-year-old's life before and after gene therapy treatment for his hereditary blindness during an interview at their home in Patchogue, N.Y.


His sister, 13-year-old Caroline Carper, treated when she was 10, said that afterward, "I saw snow falling and rain falling. I was completely surprised. I thought of water on the ground or snow on the ground. I never thought of it falling," because the sky was something she couldn't see, along with other things like her mother's smile.



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Dr. Albert Maguire checks the eyes of Misa Kaabali, 8, at the Children’s Hospital of Philadelphia, Oct. 4, 2017. Misa was 4 years old when he received his gene therapy treatment.



The treatment, Luxturna, is made by Philadelphia-based Spark Therapeutics. It does not give 20-20 vision or work for everyone, but a company-funded study found it improved vision for nearly all of those given it and seemed safe. The company's Nasdaq ticker symbol is ONCE, for how often it hopes the therapy is needed. "It's exciting" and in some cases might be a cure, although how long the benefits last isn't known, said Dr. Paul Yang, an eye specialist at Oregon Health & Science University who is testing gene therapies for other companies. "There's nothing else for these kids."


How it works (https://www.voanews.com/a/fda-considers-gene-therapy-blindness/4063107.html)

waltky
12-20-2017, 06:49 AM
New Gene Therapy for Rare Form of Blindness Wins US Approval...
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Gene Therapy for Rare Form of Blindness Wins US Approval
December 19, 2017 | WASHINGTON — U.S. health officials on Tuesday approved the nation's first gene therapy for an inherited, rare form of blindness, marking another major advance for the emerging field of genetic medicine.


The approval for pharmaceutical company Spark Therapeutics offers a life-changing intervention for a small group of patients with a vision-destroying genetic mutation and hope for many more people with other inherited diseases. The drugmaker said it would not disclose the price until next month, delaying debate about the affordability of a treatment that analysts predict will be priced around $1 million. The injection, called Luxturna, is the first gene therapy approved by the Food and Drug Administration in which a corrective gene is given directly to patients. The gene mutation interferes with the production of an enzyme needed for normal vision.



https://gdb.voanews.com/CB0FBAB8-8EE2-4373-A3FC-D31C2A22C935_w1023_r1_s.jpg
Dr. Albert Maguire checks the eyes of Misa Kaabali, 8, at Children's Hospital of Philadelphia, Oct. 4, 2017. Misa was 4 when he received his gene therapy treatment. On Dec. 19, 2017, the Food and Drug Administration approved therapy that improves the vision of patients with a rare form of inherited blindness, another major advance for the burgeoning field of genetic medicine.



Patients who got the treatment have described seeing snow, stars or the moon for the first time. "One of the best things I've ever seen since surgery are the stars. I never knew that they were little dots that twinkled," said Mistie Lovelace of Kentucky, one of several patients who urged the FDA to approve the therapy at a public hearing in October. Patients with the condition generally start losing their sight before 18, almost always progressing to total blindness. The defective gene that causes the disease can be passed down for generations undetected before suddenly appearing when a child inherits a copy from both parents. Only a few thousand people in the U.S. are thought to have the condition.


One injection per eye


Luxturna is delivered via an injection for each eye; they replace the defective gene that prevents the retina — tissue at the back of the eye — from converting light into electronic signals sent to the brain. The FDA has approved three gene therapies since August, as decades of research into the genetic building blocks of life begin translating into marketable treatments. The previous two were custom-made treatments for forms of blood cancer. Novartis' Kymriah is priced at $475,000 for a one-time infusion of genetically enhanced cells. Gilead Sciences' similar treatment, Yescarta, costs $373,000 per treatment. Philadelphia-based Spark Therapeutics said it would announce its price in early January, but suggested its own analysis put the value of the therapy at about $1 million. Key to the company's reasoning is the assumption that Luxturna will be given once, with lasting benefits. To date, the company has tracked patients enrolled in a key study for as long as four years and hasn't seen their vision deteriorate. "All the data we have today suggests it's long-lasting, if not lifelong," said Spark CEO Jeffrey Marrazzo.


Given Luxturna's FDA approval and strong study results, many experts expect U.S. insurers, including both the federal government and private plans, to cover the treatment. The spate of new genetic therapies marks a boom for a field once plagued by safety concerns. Gene therapy research suffered a setback in 1999 with the death of a patient treated for a rare metabolic disorder at the University of Pennsylvania. In another case, patients treated for an immune disorder later developed leukemia. Dr. David Valle said initial excitement about the wide-ranging possibilities for genetic medicine has given way to a more deliberative approach focused on individual diseases. He applauded researchers at the University of Pennsylvania for decades of work that led to the treatment. "The hype for gene therapy has been without many successes and actually a few failures, so chalk this one up in the win column," said Valle, a geneticist and pediatrician at Johns Hopkins University, who was not involved in Luxturna's development.


Development took years (https://www.voanews.com/a/gene-therapy-rare-form-blindness-wins-approval/4170744.html)

waltky
09-09-2018, 12:16 AM
Gene Therapy Breakthrough Wins World's Largest Vision Award...
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Gene Therapy Breakthrough Wins World's Largest Vision Award
September 04, 2018 — Seven scientists in the United States and Britain who have come up with a revolutionary gene therapy cure for a rare genetic form of childhood blindness won a 1 million euro ($1.15 million) prize Tuesday, Portugal's Champalimaud Foundation said.



Established in 2006, the annual award for work related to vision is one of the world's largest science prizes, more than the latest 9 million Swedish crown ($987,000) Nobel Prize in Physiology or Medicine. "This is the first, and still only, example of successful gene therapy in humans that corrects an inherited genetic defect and is therefore a milestone in medical therapeutics," said Alfred Sommer, Dean Emeritus of the Johns Hopkins Bloomberg School of Public Health and chairman of the award jury.



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Jean Bennett, Albert Maguire, Robin Ali, James Bainbridge, Samuel Jacobson, T. Michael Redmond and Portugal's President Marcelo Rebelo de Sousa attend the 2018 Antonio Champalimaud Vision Awards ceremony at Champalimaud Foundation in Lisbon, Portugal



One of those honored, Michael Redmond of the National Eye Institute in Maryland, had traced the cause of the disease, Leber congenital amaurosis (LCA), to a mutated gene. Three cooperating research teams later managed to replace the gene in the eye, restoring vision to treated children and adults with one form of LCA and "enabling the entire field ]of gene therapy for human disease," the foundation said. These teams are comprised of U.S. scientists Jean Bennett and Albert Maguire; Samuel Jacobson and William Hauswirth; and Britons Robin Ali and James Bainbridge.



Their gene augmentation therapy involved the delivery of healthy genes using engineered harmless viruses, described by the foundation as "an elegant solution." The foundation, which focuses on neuroscience and oncology research at its Lisbon base, was set up at the bequest of Portugal's late industrialist Antonio Champalimaud who died in 2004. The first vision prize was awarded in 2006.


https://www.voanews.com/a/gene-therapy-breakthrough-wins-world-llargest-vision-award/4557737.html