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Midsummer Updates at DNA Science

Sonn and grandson (4)Summer is half over, so I thought I’d update a few posts.

EMAN IN LIBERIA
A year ago, I frantically wrote about my young friend in Liberia, Emmanuel Gokpolu, and his pleas to help stop Ebola. Emmanuel and his loved ones survived the epidemic. When Eman’s medical education stopped when schools shut and several instructors died, he and his friends took to the streets to spread the word about how to avoid infection. The people of Liberia were saving themselves before the US began to take things seriously, only when the first case happened here.

Medical school in Monrovia has started up again for Eman, but only part time due to loss of people and resources. So he’s looking to continue his education, perhaps in Ghana, South Africa, or Nigeria. Even though Ebola has ebbed to a few cases, infectious disease is a way of life in Liberia. Eman spent his birthday last week recovering from malaria and typhoid fever. He says hi!

Great news! An article in The Lancet just announced a very promising Ebola vaccine!

1000 genomeADULT POLYGLUCOSAN BODY DISEASE
On January 1, DNA Science covered an inherited disorder called adult polyglucosan body disease. It’s often misdiagnosed, because the symptoms are common. Dragging feet = ALS. Numb extremities = peripheral neuropathy. Numbness + fatigue = MS.

Researchers at Rabin Medical Center in Israel report in the current Journal of Neurology on 30 individuals with APBD, all initially misdiagnosed. Nearly a third had undergone futile, incorrect treatment. More than half of the men were told their urinary frequency was due to an enlarged prostate – some even had the organ removed!

The investigators blame the errors on “physicians’ unfamiliarity with the typical clinical and imaging features of APBD.” To remedy that, the Adult Polyglucosan Body Disease Research Foundation has developed a checklist of symptoms to help neurologists identify the zebras among the horses. And Ruth Kornreich, MD, associate professor of Genetics and Genomic Sciences at the Icahn School of Medicine at Mt. Sinai and colleagues recently determined that the carrier rate for APBD in the Ashkenazi Jewish population is a whopping 1 in 68, and have added it to their genetic screening panel.

(NHGRI)
(NHGRI)

Back at the beginning of the year, I wrote that “The APBD story offers a powerful example of the evolution of classifying disease by phenotype to the precision of classifying by genotype.” Perhaps because of President Obama mention of “precision medicine” in his state of the union address a few weeks later, an Israeli company has offered to support development of treatments for APBD. I don’t know any details, but the much-needed funding depends upon establishing a patient registry of 200 individuals, and APBDRF.org needs more people to sign up.

So … if you have numbness, cramps, stiffness, or a heavy feeling in your hands, feet, arms, and/or legs; muscles that are twitchy or sore; fatigue; foot drag; stumbling; and urinary frequency, please check out the foundation and talk to your health care provider about the possibility that you may have this condition. Sign up for the registry at APBDRF.org!

THE ENDING OF WAYWARD PINES
Wayward_Pines,_a.k.a_Agassiz,_BCLast week’s post concerned the ending of the Fox TV series Wayward Pines, in which the remnants of humanity are catapulted (via freezing) 2,000 years in the future, to battle the aberrant creatures that our species will become.

The ending didn’t disappoint. The “first generation,” the high school crowd being groomed to be the future, had more or less stayed in the background, but then they amassed and emerged to get rid of the elders. Rather than the peaceful, willing drifting off to Carousel of over-30s depicted in the dystopia of Logan’s Run, the older folk of Wayward Pines were murdered. The very last scene shows a few mangled characters displayed on light poles for all to see, like the final scene of the film Spartacus with bodies splayed on crosses.

I found the ending of offing the elders disturbingly relatable. Try looking for a job if you’re over 55. Check out the photos on LinkedIn. For a variation on this theme and a great summer read, try The Knockoff. A 40-something executive editor at a Vogue-like magazine returns to work after time off for cancer treatment to discover that her 25-year-old former assistant has gone off to Harvard Business School and is back, in charge, and has turned the magazine into an app.

Knowing what I do about the textbook industry (I just did a podcast on this, On the Difference Between Writing About Science and Science Writing/), the death of magazines and books made from dead trees is more likely than Homo sapiens evolving into the ghouls of Wayward Pines in just 2,000 years.

Eliza and Beckham O'Neill, the cutest kids ever.
Eliza and Beckham O’Neill

GENE THERAPY KIDS
I often write about families whose kids have had gene therapy or that have made gene therapy possible for others. Here are a few updates.

Eliza and Beckham O’Neill are still staying at home to avoid contracting any nasty viruses that could keep Eliza out of a gene therapy trial for her  Sanfilippo syndrome type A.

Yesterday I received an invitation to the 17th Annual Canavan Charity Ball, sponsored by Canavan Research Illinois, which means that Max Randell will be turning 18. I can hardly believe it!

Max had gene therapy at 11 months of age for Canavan disease and again a few years later, and will have survived about a decade longer than expected. Sadly, this year’s ball is in memory of Isaac Michael Levin, who died of the disease at just 18 months of age.

Max Randell
Max Randell

“Max and Isaac shared an immediate bond and were able to communicate with each other. It was beautiful and amazing to watch,” wrote Ilyce, Max’s mom, in the invitation. And it’s true. Although Max can only blink, he can communicate – I’ve seen it.

Corey Haas
Corey Haas

Corey Haas, about to turn 15, is doing what kids around my neck of the woods do midsummer – swimming, fishing, hiking. He’s doing great. Without the gene therapy that he had a few years ago, he’d be nearly completely blind, from Leber congenital amaurosis, RPE65 type. The phase 3 clinical trial for that gene therapy is well underway at the University of Pennsylvania and at various stages in several other projects.

Hannah Sames awaits her turn for the gene therapy for giant axonal neuropathy that got underway at the University of North Carolina a few months ago. Although her family is largely responsible for the clinical trial, Hannah’s immune system must be suppressed before she can participate. But the trial for GAN is paving the way for a trial for infantile Batten disease. Dr. Steven Gray is heading up both projects at UNC.

Taylor King
Taylor King

DNA Science has profiled Taylor King, a beautiful young woman who was diagnosed with Batten disease in 2006, at age 7. Her family’s organization Taylor’s Tale has been instrumental in funding gene therapy research at UNC. And thanks to the efforts of Taylor’s mom Sharon and many others, on July 28, the North Carolina General Assembly unanimously voted to establish the state’s Advisory Council on Rare Diseases. Now other states are calling to ask how they did it.

Taylor turns 17 on August 19. Happy birthday Taylor!

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