In the United States, a disease is considered rare if it affects fewer than 200,000 Americans. Scientists have identified more than 7,000 rare diseases. Some rare diseases affect only a few hundred people. But considered together, rare diseases affect 25 million Americans, which means about 1 in every 10 people has a rare disease.

Inherited gene defects account for 80 percent of rare diseases, many of which affect vision. Recent advances in gene technology are illuminating our understanding of the causes of rare diseases and quickening the translation of discoveries into new treatments.

NEI scientists have successfully used gene therapy to improve vision in people with Leber congenital amaurosis, a rare genetic disorder that causes blindness through the degeneration of photoreceptor cells — the rods and cones in the layer of tissue in the back of the eye called the retina. Gene therapy helps restore gene function by inserting copies of normal, functioning genes into cells. Although vision gains were modest, successful demonstration of the strategy holds promise for treating other degenerative retinal disorders such as retinitis pigmentosa (RP). In January 2012, NEI scientists successfully used gene therapy to treat dogs with a condition similar to RP and are making plans to test the therapy in humans.

People with rare diseases, and their families, have unique challenges beginning with obtaining an accurate diagnosis, which is often delayed due to limited knowledge and awareness in the medical community.

EyeGENE, an NEI-sponsored collaborative network for ophthalmic research, is helping diagnose patients with eye-related genetic diseases while enabling researchers to study and characterize these rare conditions. Through a network of federally certified molecular diagnostic testing labs, patients who participate in eyeGENE gain access to free genetic testing, which is often expensive and not covered by health insurance. EyeGENE currently offers testing, at labs across the country, for more than two dozen rare genetic conditions. In exchange for free genetic testing, participants contribute their clinical and genetic information to the confidential eyeGENE registry. As researchers develop potential treatments, eyeGENE will help facilitate patient recruitment for clinical trials.

To help people living with low vision and blindness maintain or increase their independence, the NEI funds the development of assistive technologies and devices through Small Business Innovation Research awards and other grants. For example, Second Sight, a major recipient of NEI funding, has successfully developed a retinal prosthesis — essentially an externally worn digital camera wirelessly coupled to an electrode grid implanted on the retina inside the eye — that restores limited vision to people with RP.

Rare but Strong Together is the 2012 Rare Disease Day slogan. The NEI stands strong with rare disease patients and their families and is committed to providing research support and leadership for finding new treatments and cures for rare eye-related diseases.

During Rare Disease Day, NIH is holding a daylong symposium about rare disease research. For more information about the symposium, visit http://www.rarediseases.info.nih.gov/RareDiseaseDay.aspx.

For more information about Rare Disease Day, visit the NIH Office of Rare Disease Research at http://rarediseases.info.nih.gov.

The National Eye Institute, part of the National Institutes of Health, leads the federal government’s research on the visual system and eye diseases. NEI supports basic and clinical science programs that result in the development of sight-saving treatments. For more information, visit http://www.nei.nih.gov.

Source: NIH news release

Sam was the king of the Oakville cats. He was a mensch. His presence will animate our lives long after his passing.

I am reminded of the poem “Cat In An Empty Apartment” by  Polish poet Wis?awa Szymborska. After her  death earlier this week, the poem feels hauntingly uncanny to me — heart-stabbing as I turn it inside out:

Cat in an Empty Apartment – Wis?awa Szymborska

Die — You can’t do that to a cat.
Since what can a cat do
in an empty apartment?
Climb the walls?
Rub up against the furniture?
Nothing seems different here,
but nothing is the same.
Nothing has been moved,
but there’s more space.
And at nighttime no lamps are lit.
Footsteps on the staircase,
but they’re new ones.
The hand that puts fish on the saucer
has changed, too.
Something doesn’t start
at its usual time.
Something doesn’t happen
as it should. Someone was always, always here,
then suddenly disappeared
and stubbornly stays disappeared.

Via Ioannakis: “Tom Schiller’s 1975 short documentary (35mins) follows Miller from the microcosmos of his very own shit-hole to a mock-up 1890s New York of his childhood — or “that old shit-hole, New York’” (in fact the set for Hello Dolly, with Barbra Streisand & Walter Matthau, 1969). Schiller describes his documentary this way: ‘A guided tour of the pictures and artefacts of his bathroom’ … though it feels to be very much more than that.”

Jeanette Winterson: writes in the NYT Book Review:

What happens when the unreliable narrator turns out to be the cultural critic?

What we write about fiction is never an objective response to a text; it is always part of a bigger mythmaking — the story we are telling ourselves about ourselves. That story changes. George Orwell, writing in 1940 about Henry Miller, has very different preoccupations from Kate Millett writing about Miller in 1970. Orwell doesn’t notice that Miller-women are semi­human sex objects. In fact, his long essay “Inside the Whale” barely mentions women at all. Millett does notice that half the world has been billeted to the whorehouse, and wonders what this tells us about both Henry Miller and the psyche and sexuality of the American male.

Norman Mailer needed Miller to be like Shakespeare (this is plain wrong, but the need is interesting); Erica Jong wanted to be Athena to Miller’s Zeus — born straight out of his head and saving him from the Feminist Furies in her book “The Devil at Large” (1993).

And now?

It is some 50 years since “Tropic of Cancer” was published in the United States by Grove Press. First published in Paris in 1934 by Obelisk, a soft-porn imprint, it had been banned as obscene in America until a landmark legal victory overturned the ban, allowing Grove to print it legally in 1961. The book became an instant best seller, and Henry Miller stood as the priapic prophet of sexual freedom.

Frederick Turner’s aim in “Renegade” is to explain how “Tropic of Cancer” came to be written, came to be banned and came to be an American Classic.

I wish these clips included documentation about their sources. Any information from readers would be most appreciated.

Henry Miller & Anaïs Nin on Death and Dreams | Anaïs Nin reflections

• Renegade — Henry Miller and the Making of ‘Tropic of Cancer.’ — By Frederick Turner — Book Review – NYTimes.com 012912
  Jeanette Winterson: “It is some 50 years since “Tropic of Cancer” was published in the United States by Grove Press. First published in Paris in 1934 by Obelisk, a soft-porn imprint, it had been banned as obscene in America until a landmark legal victory overturned the ban, allowing Grove to print it legally in 1961. The book became an instant best seller, and Henry Miller stood as the priapic prophet of sexual freedom. Frederick Turner’s aim in “Renegade” is to explain how “Tropic of Cancer” came to be written, came to be banned and came to be an American Classic.”
• Ben Jonson – A Life – By Ian Donaldson – Book Review – NYTimes.com 012312
  The contrasting lives — and posthumous fates — of Jonson and Shakespeare are a minor but recurring theme in the deeply researched but happily readable new biography of Jonson by Ian Donaldson, entitled “Ben Jonson: A Life.” A general editor of the forthcoming seven-volume “Cambridge Edition of the Works of Ben Jonson,” Donaldson has a case to make that, despite the Shakespearean eclipse, Jonson was as central to the development of the British theater as Shakespeare was — in some ways perhaps more so, at least during the years in which their plays were first produced.
• Facebook Timeline Brings The Past Back To The Future | WBUR & NPR 012912
  Facebook’s Timeline — the long-anticipated overhaul of the site — is rolling out across the world this week. Timeline allows friends to surf through all your posts going back to the beginning of Facbeook time. Graphically it can be a beautiful thing. Mark Zuckerberg calls it a chance for users to tell the stories of their lives. And over the next few weeks, users across the world will get it on their profile. But here’s the important part — once you get it, you will have just seven days to clean up all your old posts and make it presentable to the world. The problem with Facebook’s Timeline is that the story you chose to tell about your life back in college in 2004 might be considerably different from the story you would like to tell about your life now. But Timeline will make all those old posts and photos documenting things back in the day easily visible to the world.
• Everyone Should be able to Access the Internet – On The Media 012712
  Brooke asks Harvard Law professor and co-founder of the Berkman Center for Internet and Society Jonathan Zittrain if access to the internet should be considered a human right. He says that according to the Universal Declaration of Human Rights, everyone has the right to receive and impart information through any media, and today’s media of choice is the internet.
• Who Owns Data From Inside Your Body? – On The Media 012012
  If you have an implanted medical device that can collect data in your body, who owns that information? There doesn’t appear to be a clear answer to the question. Brooke speaks to Hugo Campos, a patient advocate and founder of the ICD User Group, about his unsuccessful attempt to obtain the data collected by his own implanted defibrillator.
• A Wild Week for Online Piracy – On The Media 012012
  This week saw more then its share of internet drama. The US Government led a massive operation against the website MegaUpload. And dozens of major websites staged a blackout in protest of two proposed laws – the Stop Online Piracy Act and the Protect IP Act. Bob talks to Techdirt’s Mike Masnick about the implications of the proposed legislation and the foment online.

The Fortunes and Misfortunes of the Famous Moll Flanders, Etc. Who was born in Newgate, and during a life of continu’d Variety for Threescore Years, besides her Childhood, was Twelve Year a Whore, five times a Wife (whereof once to her own brother), Twelve Year a Thief, Eight Year a Transported Felon in Virginia, at last grew Rich, liv’d Honest and died a Penitent. Written from her own Memorandums

I confess,  Moll has kept me up past my bedtime three nights in a row! Where’s Kim Novak when I need her? I’m reading as lively a version produced by the Library of Congress (NLS). Narrated by Barbara Caruso, that audiobook is available only to blind readers, so I can’t share it here. Nonetheless, you can listen to Moll, too, via a LibriVox audio book that is freely available in the public domain, as an MP3 download or a live stream:

To this audio player, LibriVox adds the note: “We are not able to offer a simple piece of HTML to show the playlist along with the player.” For that, see the webpage.

Daniel Defoe sources: Wikipedia | Project Gutenberg | Internet Archive | LibriVox

About the image: Daniel Defoe in the pillory, 1862 line engraving by James Charles Armytage after Eyre Crowe. [Source: Wikipedia]

• An Amazing Trickeration?: Banished Words For 2012 : NPR 010112
  During the 2011 MTV Video Music Awards in Los Angeles on Aug. 28, 2011, singer Beyonce Knowles rubbed her stomach in the middle of the performance to reveal her baby bump. “Baby bump” is one of the words on Lake Superior State University’s list of banished words this year.
• How A Teen’s Coerced Confession Set Her Free : NPR 010212
  In that room, Truong will admit to suffocating her son. She’ll be arrested and she’ll spend almost three years awaiting trial for murder. But a videotape that police made of that interrogation, which NPR member station WBUR fought in court to obtain, will eventually set her free.
• How Fracking Wastewater Is Tied To Quakes : NPR 010512
  Small earthquakes in Ohio and Arkansas associated with hydraulic fracturing for natural gas have taken many people by surprise. Gas industry executives say there’s no hard evidence that their activities are causing these quakes. But some scientists say it’s certainly possible; in fact, people have been causing quakes for years.
• Quakes Jeopardize Ohio City’s Economic Recovery : NPR 010512
  There is a natural gas drilling boom going on in Youngstown, Ohio. But a series of earthquakes there has renewed focus on activities like drilling and mining that are known to cause earthquakes. Now people in the area are weighing safety over economic growth.
• ‘Thin Blue Line’ Piqued Mike Mills Movie Interest : NPR 010312
  Steve Inskeep talks to filmmaker Mike Mills for the latest in the Watch This series about recommended movies and television shows. Mills directed the film Beginners starring Christopher Plummer as an elderly father who comes out of the closet.
• Up Close And Personal: Introducing Intimate Theater : NPR 010212
  Theatergoers are used to being anonymous, hidden in the darkness, part of a crowd. They’re free to fidget, yawn, even tune out; the actors won’t know. But in an innovative kind of theater popping up at fringe festivals and independent venues the spotlight shines on the audience. Intimate theater relies on tight spaces and unconventional stages to collapse the distance between performer and viewer.
• Google Searches Are A Window Into Our Culture : NPR 010212
  Millions of people are searching for things every day on Google. The people at the giant search engine company realized that if they tracked those searches, the patterns can tell us about what’s happening with people’s lives.
• Airlines To Post Fees, Exxon Awarded $900 Million : NPR 010212
  Starting later this month, the Transportation Department is requiring airlines to advertise prices which include all of the non-optional fees. That way passengers know the full amount they’d have to pay for a ticket. And, Exxon Mobil received some disappointing news from an international panel arbitrating a dispute between it and Venezuela. The panel awarded Exxon only about $900 million. It had been seeking $7 billion.

It was a rainy night in Columbus, Ohio on Christmas Eve in 1944. All three of Ona’s sons were fighting overseas in the war. The news was full of stories about the German counter-offensive known as the Battle of the Bulge. Ona knew my dad was somewhere in northern France, and she feared the worst.

Anxious and depressed, Ona walked aimlessly along the streets of her neighborhood that night. She stopped in front of a Salvation Army Hall when she heard people singing. She listened a long time in the rain before mustering the resolve to go in. She stood meekly just inside the door, ready to slip back into the night. When the hymn ended, the Salvation Army Captain at the front of the hall noticed her standing there, wet and frazzled .

“Lady,” he said in a booming, radiant voice, ‘do you know how to play the piano?”

She did.

“Praise the Lord! We’ve been praying for a piano player, and here you are!”

The Salvation Army gave Ona refuge that Christmas Eve, and she made music for them every Wednesday night and Sunday morning for the next 30 years. She played all the stalwart hymns. She wrote several hymns herself, but the scores are lost to the world. What I remember now – I can still hear it – is her jubilation as she marched through the major chords until she made them swing.

I can see Ona now sitting at the piano, a cigarette dangling from her lip, a cold cup of coffee perched somewhere in arm’s reach. Conjure Hoagy Carmichael in a floral print house dress and you get the picture. See the four-year-old boy snuggled next to her on the piano bench? That’s me, mesmerized by her deft hands making such an effortless stream of music. She played it all by ear. Ona and my dad read and wrote music on paper, but they really cut loose when they played without a score. From them I began to learn what it means to listen, remember, and improvise this way. None of us knew then how I would need that knowledge — playing by ear — throughout a life of letting go of sight.

Originally posted December 24, 2007.

The title here comes from Walter Lowenfels, the poet and labor organizer whom Henry Miller immortalized as Jabberwhorl Cronstadt in Black Spring. “One reader is a miracle,” Walter said. “Two readers are a movement.”

[Photo by Ms. Modigliani]

I remember the book I held in my hands that day. I remember the feel of its time-warped, water-stained pages. I remember its murky, moldy river smell, call it the book’s bouquet, suggesting years of storage on the banks of the Seine. Had I bought it then, I could feel and smell it now and know it from a thousand other books in my studio. Its touch and bouquet would transport me into the midst of its terroir, several blocks of the Latin Quarter only a stone’s throw from the river, where it was printed and published, sold and re-sold, read and debated, discarded and read again in other hands — for three centuries. Like the fish that got away, it looms ever larger and more mysterious just below the surface of my memory.

It was a 1745 edition of Voltaire. The price was 45 euros. I had as much cash in my pocket, but that seemed exorbitant for a book slowly composting like leaf-mold. Voltaire never meant that much to me. I was hoping to stumble upon an affordable antiquarian volume of Rabelais. Still, 1745 was 1745, and I liked the smell of leaf-mold…

“You don’t need to buy books,” Ms. Modigliani said after snapping the photo. “You don’t need to read them. Just touching books is what you really want.”

She was right. Until then, she’d always been a little dubious about my passion for collecting books. Charitably, she overlooked the impracticality, the apparent futility of a blind man acquiring (and housing) countless printed volumes he could never read. Patiently and generously, she read to me more than a few obscure books over the years. As we made our way through the bookstalls along the Seine, she gamely surveyed the titles for me, translating snippets of this text or that. She almost succumbed to the passion herself as she haggled with bouquinistes on my behalf. Nonetheless, she couldn’t ignore the incongruity that I might pay more for a musty old book than she would spend for chic new shoes. It seemed, well, profligate.

So it was a moment of deep insight and acceptance when Ms. Modigliani said, “Just touching books is what you really want.” I felt understood then, and loved. How could buying any mere physical object compare with that?

I didn’t buy the book. We walked down Quai des Grands-Augustins to the Institut de France, then turned left onto Rue de Seine. There was Voltaire! Chancing upon his statue unexpectedly must have been an omen. I took a picture as if to prove to myself that I truly was a free agent in this situation. Then I heard a cold marble voice mocking me. Maybe it was an oracle from the terroir. “You should have bought the book.”

[Photo by a blind flaneur]