Posts Tagged ‘Ohio’


A one-time intravenous infusion of the high dose of gene therapy at Nationwide Children’s Hospital in Ohio extended the survival of patients with spinal muscular atrophy type 1 (SMA1) in a Phase 1 clinical trial, according to a study.

A one-time intravenous infusion of the high dose of gene therapy extended the survival of patients with spinal muscular atrophy type 1 (SMA1) in a Phase 1 clinical trial, according to a study published in the New England Journal of Medicine. The study was conducted by Researchers from Nationwide Children’s Hospital in collaboration with AveXis, Inc. and The Ohio State University College of Medicine.

“My team at Nationwide Children’s has worked with commitment and dedication to develop a therapy that may subsequently be shown through future clinical trials to potentially alter the course of this unforgiving condition and provide a therapeutic option for the families and infants with SMA1,” says Jerry Mendell, MD, principal investigator in the Center for Gene Therapy at Nationwide Children’s.

SMA1 is a progressive, childhood, neuromuscular disease caused by a mutation in a single gene. Children with SMA1 fail to meet motor milestones and typically die or require permanent mechanical ventilation by 2 years of age. The phase 1 clinical trial is the first to test the functional replacement of the mutated gene responsible for SMA1.

A one-time intravenous injection of modified adeno-associated virus serotype 9 (AAV9) delivered the SMN gene to 15 patients. Three patients received a low dose, while 12 patients received a high dose. In the Phase 1 trial, patients in the high dose group demonstrated improvement in motor function and they had a decreased need for supportive care compared to the natural history of the disease.

Specifically, at the end of the study period, all 15 patients appeared to have a favorable safety profile and to be generally well tolerated. Of the 12 patients treated with the high dose, 92 percent of patients have achieved head control, 75 percent of patients can roll over and 92 percent of patients can sit with assistance. Seventy-five percent of these patients are now sitting for 30 seconds or longer. Two patients can crawl, pull to stand and stand and walk independently.

According to natural history of the disease, patients require nutritional and respiratory support by 12 months of age, and are not able to swallow or speak effectively. Of the patients who received the high dose in study, 11 patients are able to speak, 11 patients are fed orally and seven do not require bi-level positive airway pressure as of the data cut-off (August 7, 2017).

“In this first phase of clinical trials, we have observed preliminary results that appear to be promising compared to the natural history of SMA Type 1,” says Dr. Mendell, also a faculty member at The Ohio State University College of Medicine.

This study builds on nearly three decades of foundational research led by teams at Nationwide Children’s and Ohio State’s Wexner Medical Center and exemplifies the strong basic science and clinical bonds between the two institutions. Arthur Burghes, PhD, of Ohio State created a ground-breaking SMA mouse model that remains the standard by which all therapies, including AVXS-101, are initially tested. Senior author of the study, Brian Kaspar, PhD, during his appointment at Nationwide Children’s discovered that the AAV9 vector was capable of crossing the blood brain barrier when injected into the vascular system to deliver genes directly to motor neurons. The two laboratories then collaborated to show that scAAV9-SMN, when delivered to SMA mice shortly after birth, completely prevented their neuromuscular disorder. The laboratories also collaborated to successfully prove that reversing a protein deficiency through gene therapy is effective in improving and stabilizing SMA in a large animal model. “In neurological disease, it is rare to go from gene defect to therapy so directly, and the fact that this has happened here in one place is perhaps even rarer,” said John Kissel, MD, chair of Neurology at Ohio State and director of the SMA Clinic at Nationwide Children’s.

AveXis, Inc., a clinical-stage gene therapy company developing treatments for patients suffering from rare and life-threatening neurological genetic diseases, announced in July 2016 that the U.S. Food and Drug Administration (FDA) granted Breakthrough Therapy Designation for the treatment based on preliminary clinical results from the trial of AVXS-101.

“At AveXis, we are enormously pleased to see that all children who received AVXS-101 are alive and free of permanent ventilatory support at 20 months of age and older — an age where, sadly, only eight percent of untreated children with SMA Type 1 are expected to survive without permanent breathing support,” said Dr. Kaspar, now serving as Chief Scientific Officer at AveXis. “The New England Journal of Medicine publication marks an exciting milestone in the development of AVXS-101.”

Journal Reference:

Jerry R. Mendell, Samiah Al-Zaidy, Richard Shell, W. Dave Arnold, Louise R. Rodino-Klapac, Thomas W. Prior, Linda Lowes, Lindsay Alfano, Katherine Berry, Kathleen Church, John T. Kissel, Sukumar Nagendran, James L’Italien, Douglas M. Sproule, Courtney Wells, Jessica A. Cardenas, Marjet D. Heitzer, Allan Kaspar, Sarah Corcoran, Lyndsey Braun, Shibi Likhite, Carlos Miranda, Kathrin Meyer, K.D. Foust, Arthur H.M. Burghes, Brian K. Kaspar. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. New England Journal of Medicine, 2017; 377 (18): 1713 DOI: 10.1056/NEJMoa1706198

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If you unwittingly pass through this Midwestern town on the first weekend in August, you might think you’ve stumbled into a mirrored funhouse.

Everywhere you look there are identical twins, all of them wearing matching outfits. Here, two stout gray-haired men dressed as pilgrims. Over there, a pair of bearded dudes in lederhosen, hoisting trays stacked with mugs of beer. Even the baby girls in the two-seat stroller, sporting Steelers onesies, are spitting images.

This double-vision spectacle is Twins Days, an annual festival that brings thousands of twins from around the globe to northeastern Ohio to celebrate their twin-ness. The festival bills itself as the largest annual gathering of twins in the world.

It’s also one big petri dish for scientists, who flock to the festival every summer to study twins’ genetics and behavioral differences.

“It’s a club you can’t buy your way into,” says Katie Barry, 32, of New York City, who has been coming to Twins Days with her twin sister Kristy every year since they were 7. She gazes around at the carnival of costumed couples with a smile, searching for the right words.

“It’s this oasis of twin love.”

‘Where’s your twin?’

It’s almost too perfect that Twins Days is held in Twinsburg. The Cleveland suburb is named for identical twin brothers who helped settle the town and died of the same ailment in 1827, within hours of each other.

The festival got off to a quiet start in 1976, when 36 sets of twins showed up. It grew fast. This year, the event attracted more than 1,900 sets of twins, along with a smattering of triplets and at least one set of quadruplets. They come from almost every US state and from as far away as Australia.

The event has a county fair feel and includes a parade, look-alike contests, a talent show and an enormous group photo — a human blanket of twins — taken in a field from atop a crane.

Twin humor is abundant. Siblings stroll the grounds in T-shirts that say, “Thing 1” and “Thing 2,” “The Good Twin” and “The Evil Twin,” or “I’m not Steven” and “I’m not David.”

More than a few have rhyming names, like Bernice and Vernice, Carolyn and Sharolyn and Jeynaeha and Jeyvaeha.

It may be the only place in America where you can stroll into a hotel and be asked by a staffer, “Where’s your twin?”

For many identical twins, who spend the rest of the year drawing stares and enduring stupid questions — actual example: “Do you have the same birthday?” — it’s a rare chance not to stand out.

Twins say they enjoy profound bonds that few “singletons” — as non-twins are called here — fully understand.

“Some people bring spouses or boyfriends, and it’s a terrible mistake,” says Barry, “because they feel isolated.”


Katie and Kristy Barry, 32, of New York City, in homemade costumes inspired by “Wonder Woman.”

An exclusive club

About 33 in every 1,000 human births in the US are twins, a rate that has climbed in recent decades as more women marry later and take fertility drugs or employ in vitro fertilization. Identical twins are an even more exclusive club — roughly 4 in every 1,000 births.

They are formed when a single fertilized egg splits in two after conception, creating two embryos with the same genetic makeup and DNA.

Scientists love to study them because they help answer the age-old question about nature vs. nurture. Because identical twins share the same genes, any differences between them — say, more wrinkled versus less wrinkled skin — must be the result of their environment.

Take Laura and Linda Seber, 41, from Sheffield, Ohio.

The pair tied for 8th in their high school class of 404 students, attended the same grad school — “It was great to buy one set of books,” Linda says — and now share a home while working as physical therapists.

“If we’re genetically identical, I should be able to do everything that she does,” says Linda. “But sometimes it’s difficult being compared to each other. Because if I can’t achieve what she achieves, it’s like … why? Why can’t I do that?”

Indeed, it is hard to underestimate the mysterious psychic forces that bind one twin to another.

Don and Dave Wolf, 59, have identical graying beards that hang halfway down their chests. The identical twins live in Fenton, Michigan, and do long-haul trucking, sharing turns at the wheel during marathon cross-country drives.

The pair recall waking up one morning as boys, age 11 or 12, to discover they had just had the same dream. A few years later, Dave suddenly became overwhelmed with concern for his brother only to learn from their dad that Dave had just broken his collarbone in a motorbike crash.

“I can’t explain it. I didn’t feel any pain,” Dave says. “But I just knew something had happened.”


Don and Dave Wolf, 59, share a home in Michigan and drive a tractor-trailer together.

In the name of science

In a long white tent on the festival grounds, a long row of twins sit at tables before trays of color-coded food flavors: milk, potato chips, artificial sweeteners. Wearing nose clips to mask aromas, they uncap each sample, take a taste and then spit into a plastic cup before taking a swig of water and tasting the next. They record their opinions on an iPad.

These twins are serving as volunteer subjects for the Monell Chemical Senses Center, a nonprofit research institute in Philadelphia whose sponsors include such food giants as Coca-Cola and General Mills.

“Our question is whether some people are taste-blind and if so, to what? Our interest is whether this is a genetically determined trait,” says Danielle Reed, a Monell behavioral geneticist. “We like to compare genetically identical twins to twins that are no more similar than ordinary siblings.”

This can help food scientists understand which traits — say, an affinity for bitter flavors — are most strongly determined by genetics.


Tara Louis tastes different types of milk as part of genetic research into food preferences.

“You can imagine if we look subjectively at their DNA we could predict what will taste better or worse to people,” Reed says. “So you can tailor dietary advice to people’s actual ability to taste and smell.”

Monell is just one of a handful of research groups that attend Twins Days. A few feet away at Procter & Gamble’s Olay tent, scientists are studying twins to better understand the aging process and its effect on skin. Nearby, a forensics expert from the Los Angeles Police Department is collecting latent fingerprints from identical twins — yes, twins’ prints are slightly different — to improve fingerprint-identification tools.

And at West Virginia University’s tent, biometric researchers take hi-res photos of twins and record them speaking to help computer scientists create better facial and voice recognition systems. The FBI has funded similar research here as well.

“If you can build a system that can differentiate between identical twins,” says Jeremy Dawson, a WVU associate professor of computer science, “then it’s a lot easier to tell the difference between (regular) people.”
Gregarious identical twins Doug and Phil Malm grew up in Idaho. Identical twins Jill and Jenna Lassen, both introverts, grew up in Michigan. Their father would address them as “sisters” because he was too proud to admit he couldn’t tell the girls apart.
All four were visiting the Twinsburg festival in 1991 when they met and sparks flew. Luckily, there was never a question over who would be with who.
“It was instant,” says Phil, who chose Jenna. “We knew right away which one we were with.”


Patrick M. Ketter and Paul R. Ketter Jr. sport patriotic outfits. One twin is liberal, the other more conservative.

Doug and Jill and Phil and Jenna

Twins Days is also about the science of attraction.

New kings and queens are crowned here each summer. But the closest thing to perennial festival royalty are the Malms.


Phil, Jenna, Jill and Doug Malm. The foursome met at Twins Days in 1991 and were married here two years later.

The foursome now live in Moscow, Idaho, as members of a tiny subset — identical twins married to identical twins. Doug and Phil, 60, are retired carpenters, while Jill and Jenna, 50, work in day care.

All four share one home. Separate houses, even side by side, wasn’t an option.

“It never would have worked,” Doug says.

But the couples have had to learn to solve domestic disputes as a foursome.

“When we fight, we can’t work it out as just two of us. We have to work it out as four,” Phil says.
And yes, sometimes household confusion reigns.

“When I look at my wife and her sister, there are days when I cannot tell them apart,” Doug says.

He has been known to come up behind Jill and give her a playful bite on the neck, only to realize he’s nuzzling Jenna. “And then,” he says, “we get teased for a while.”


Lauren and Allison Knight wear matching tops celebrating their Canadian heritage.

A year’s worth of data

Back at the research tents, the twins line up, sometimes for an hour or more, to participate. It’s a mutually beneficial arrangement.

The twins enjoy it because they get money or free samples. Many say they feel good knowing they are contributing to science.

The scientists like it because it’s an efficient way to gather data from a hard-to-find group of people.

The Monell Chemical Senses Center expects to collect research on some 450 twins over the course of the weekend.

“We collect a year’s worth of data in four hours,” Reed says.


Braeden and Aaron Chulskiy, 2 1/2, are pulled in a wagon by their dad.

The saddest man at Twins Days

Amid the procession of coupled siblings, one man wanders alone.

Shawn Riggins, 45, wears a T-shirt with images of his twin brother Shane’s face and a festival badge bearing both their names. And he wears his heart on his sleeve.

Shane is not here. He died last September of colorectal cancer.

“There’s a sense of emptiness that no words can describe,” Shawn says. “There is a pain that’s so deep you can’t cry it out. You can’t scream it out. You just need to walk through.

“He’s not here in the physical, but I see him every day when I walk past a mirror.”

The two brothers had been coming to Twins Days together for 20 years. They thought they were fraternal twins until 2002, when they took DNA tests at the festival and learned they were identical.


Shawn Riggins, center, talks with friends at his first Twins Days without his twin brother Shane, who died last year.

“We looked exactly alike,” says Shawn, who is a kindergarten teacher in Columbus, Ohio, and remains cancer free. “We did everything together. We had the same eyeglasses. We had the same facial hair. If we went to an event, we always had to walk in at the same time.”

Shawn agonized for months about whether to come to Twins Days this year. But in the end, he decided the support of his fellow twins, many of whom knew Shane, made it worth the trip.

“I came back here because no one else but a twin can understand the enormity of what I’m feeling,” he says.
The scientists, focused on sets of twins, no longer want to study Shawn. They can measure twins’ DNA, but they can’t fathom the depths of their grief.

But twins here, many of whom remember his brother, take him in their arms for tearful embraces.
Just then, as if on cue, a woman approaches Shawn and gives him a long hug. He thanks her.

For now, he says, “the energy in this place has given me the strength to stay.”

Riggins takes a deep breath, pulls himself together and shuffles toward a passing throng of festivalgoers. He’s ready for more hugs, two at a time.

http://www.cnn.com/interactive/2017/08/health/twins-festival-cnnphotos-trnd/index.html

thief

An Ohio man chose to wear a sign proclaiming he’s a thief rather than go to jail after trying to steal a 52-inch television.

Greg Davenport, of Liberty Township, pleaded no contest this month to a theft charge for stealing from a Wal-Mart in the township in December.

A judge in Girard gave Davenport, 44, the sentencing option of 30 days in jail or wearing a sign saying, “I am a thief. I stole from WalMart.”

Davenport has to wear the sign in front of the store eight hours a day for 10 days of his choosing.

A “zombie nativity” that spurred complaints and zoning violation notices last year is on display again in a suburban Cincinnati yard, with a change to avoid fines.

Officials have concluded Jasen Dixon’s display complies with local zoning laws because he has removed its roof. Sycamore Township zoning administrator Harry Holbert says the issue was always about the structure and zoning rules, not the zombie figures.

The scene includes a sharp-toothed, grayish figure with black-ringed eyes sitting in the manger where the baby Jesus would be in traditional Christmas nativities

Dixon was threatened with fines last year when officials said the display violated rules on size and placement of yard structures. WCPO-TV (http://bit.ly/1Q06PxD ) reports he removed it before being cited and didn’t have to pay fines.

A 73-year-old man has taken his 12,000th ride on his favorite roller coaster at King’s Island amusement park in Ohio.

The park says Gary Coleman of Monfort Heights took the milestone ride in the front row of the Diamondback roller coaster on Monday.

The retired minister has made 493 trips to the theme park outside of Cincinnati since 2009, when the 230-foot steel roller coaster opened. It’s the tallest and fastest roller coaster at Kings Island and reaches speeds of 80 mph.

Coleman says he’s loved coasters since childhood. He says he plans to continue increasing his ride count as long as he remains healthy enough to do so.

http://bigstory.ap.org/urn:publicid:ap.org:30bce0dc44ca406bad2e5e0cb1781eac

A charity calendar featuring women in their 80s and 90s from an Ohio assisted living facility is opening more than a few eyes.

The residents of the Pleasant Pointe Assisted Living near Akron decided to show a little skin in calendar. The centerfolds are two women in their 90s appearing to play poker with strategically placed oversize cards.

The 87-year-old Miss February is soaking in a bubble bath and flower petals while another resident in the calendar is covered only by a large exercise ball.

Administrator Teresa Morris said that the residents were giggling and acting like 20-year-olds when the photos were taken.

Money from the $12 calendars goes toward providing shoes for children in the city of Barberton.

http://news.yahoo.com/grandma-centerfold-rest-home-bares-calendar-143349098.html