International Rett Syndrome Foundation chief science officer receives ... - EurekAlert (press release)

Public release date: 7-Aug-2013
[ | E-mail | Share ]

Contact: Janice Ascano, Ph.D.
jascano@rettsyndrome.org
International Rett Syndrome Foundation

Steven G. Kaminsky, Ph.D., receives prestigious Uniformed Services 'University Medal' and the 'Order of Military Medical Merit' awards

CINCINNATI, OH: August 7, 2013 The International Rett Syndrome Foundation (IRSF), the world's largest and most comprehensive not-for-profit organization that funds novel research for treatments and a cure for Rett syndrome, has announced that Steven G. Kaminsky, Ph.D., received two incredibly prestigious awards at the 2013 Annual Family Conference in Midway, Utah this past June.

Dr. Steven Kaminsky leads the aggressive scientific research agenda at the International Rett Syndrome Foundation as the Chief Science Officer. Dr. Kaminsky, former Vice President for Research at the Uniformed Services University in Bethesda, Maryland, has a long distinguished career serving at a senior level for several universities and as a program officer at the National Institutes of Health (NIH).

The first award of the evening was The Order of Military Medical Merit, which was presented to Dr. Kaminsky by Brigadier General (Retired) Bill Bester. Dr. Kaminsky was recognized for his dedicated application of talent, effort and spirit which made a significant exemplary contribution to the United States Army Medical Department. This award grants the recipient membership to a unique, private organization founded by the Commanding General of U.S. Army Health Services Command in 1982 to recognize excellence and promote fellowship and esprit de corps among Army Medical Department personnel. Membership recognizes those individuals who have clearly demonstrated the highest standards of integrity and moral character, displayed an outstanding degree of professional competence, served in the Army Medical Department (for a minimum of 10 years) with selflessness, and have made a sustained contribution to the betterment of Army Medicine. This award is rarely given to a civilian.< /p>

The second award given to Dr. Kaminsky was the Uniformed Services University Medal which was presented by Dr. Larry Laughlin, MD, PhD. Dr. Kaminsky was recognized for his 11 years of outstanding service as Uniformed Services University Vice President for Research. He has advanced the frontiers of the scientific research at USU through passionate mentoring and educating junior faculty and by building trusting relationships with the National Institutes of Health and all research elements of the Military Services.

###

About Rett syndrome

Rett syndrome (RTT), a postnatal neurological disorder, occurs almost exclusively in females. RTT results in severe movement and communication problems following apparently normal development for the first six to 18 months of life. Characteristic features of the disease include loss of speech and purposeful hand use, repetitive hand movements, abnormal walking, abnormal breathing, slowing in the rate of head growth and increased risk of seizures. Current treatment for girls with RTT includes physical and occupational therapy, speech therapy, and medication for seizures. There is no known cure for RTT. In 1999 the gene associated with Rett syndrome was identified by the laboratories of Drs. Huda Zoghbi and Uta Franke and this advance has brought Rett syndrome to the forefront of research in neurology. In 2007, researchers heralded a major breakthrough by reversing RTT symptoms in mouse models. RTT is considered a "Rosetta Stone" that is helping scientists understand mul tiple developmental neurological disorders, and shares genetic links with other conditions such as autism and schizophrenia.

About Steven G. Kaminsky, Ph.D.

Author of numerous publications and abstracts, Dr. Kaminsky earned his bachelor of science in biology from Hobart College, received a masters degree in biology from Northern Michigan University and earned his doctorate degree in pathology at the State University of New York at Buffalo. He is a member of several advisory boards including StrongSTAR Consortia for Psychological Health and the Congressionally Directed Medical Research Program.

Dr. Kaminsky lives with his wife and two daughters in Frederick, Maryland. Kaminsky enjoys biking, hunting, golfing and dancing.

About IRSF and Rett syndrome

The International Rett Syndrome Foundation (IRSF) is the largest and most comprehensive not-for-profit 501c3 organization for parents, scientists, interested professionals and others concerned with Rett syndrome. The mission of IRSF is to fund research for treatments and a cure for Rett syndrome while enhancing the overall quality of life for those living with Rett syndrome by providing information, programs and services. IRSF is a proud recipient of the 4-Star rating from Charity Navigator. For more information, please visit IRSF's website at: http://www.rettsyndrome.org.

Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 female births. Symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there begins stagnation of skills, followed by a regression. Soon, stereotyped hand movements such as handwashing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns. Currently, there is no cure or significant treatment for Rett syndrome.

---

[ | E-mail | Share ]

AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert! system.

Rett Syndrome Conference held in Utah - ABC 4

MIDWAY, Utah (ABC4 News) - It's a disorder so rare there are only 40 cases reported in Utah. Most of them are girls. It's called Rett Syndrome.

This weekend, people from all over the world are coming Utah to lean on each other for support.

Lucy Heimburger smiles like any happy girl, but her smile is only one of very few ways Lucy can communicate.

"They want to be a part of the world, but their body and their mind don't coordinate that well," said Matthew Heimburger, Lucy's dad.

Lucy is one of Utah's cases of Rett Syndrome, a genetic disorder on the X chromosome affecting mostly girls.

"I call it a devastating disorder because the girls are born quite normal and somewhere around 9-12 months they start to essentially crumble in their parent's arms," said Steve Kaminsky, International Rett Syndrome Foundation.

That crumble, Lucy's dad saw with his own eyes.

"They're learning to walk, talk, they're singing and dancing and ev erything is great then this thing that was always there kicks-in and everything gets taken away," he said. "Within a short amount of time she was on the floor just looking at us with her eyes blinking, trying to figure out what's gone wrong."

At five years-old now, Lucy can't walk or talk. Even though there is no cure therapy at the National Abilities Center is helping.

"Physical therapy is very good for the girls, the more you can move the girls the better off they'll be in the long run," said Kaminsky.

But so much about Rett's remains a mystery, just like Lucy's future, but her family says they'll never give up hope.

"We believe that she is going to walk, we won't give you a time table because we don't know, but we believe she's going to walk," said Heimburger.

Reeds Lake Run: Dad runs in memory of daughter, promotes Rett Syndrome ... - MLive.com

EAST GRAND RAPIDS, Mich. — Jeff Jauch enjoyed nothing more than running road races with his daughter, Chelsea, who suffered from Rett Syndrome.

The last race the two ran together — Jauch would push Chelsea in a cart while he ran — was the Fifth Third River Bank Run on May 11. Five days later, Chelsea died at the age of 16.

Jauch, who ran in both the 5K and the 10K at the 35th annual Huntington Reeds Lake Run on Saturday, June 29, at East Grand Rapids High School, has started a charity called Running with Chelsea. The charity's objective is to raise awareness and money for families dealing with Rett Syndrome.

"No. 1 (objective) is raising awareness," Jauch said. "Some girls can walk, some girls can't walk. It affects the body differently, but it affects the whole body."

Rett Syndrome, which occurs almost exclusively in girls, is a nervous system disorder which prohibited Chelsea from walking, talking or eating normally. She also suffered from multiple seizures per day.

Jauch, 40, said he hopes the charity will help families "think outside the box" when it comes to doing activities with their children who are suffering from Rett Syndrome.

"The one thing with Chelsea, she could have 20 seizures in the day," Jauch said, "but whenever she was in the (cart), she never had any seizures. That's something that is pretty special to me and encourages families to think outside the box.

"You never know what the outcome of getting a kid out there (can do)."

Joshua McAlary, of East Lansing, won the 5K at the Reeds Lake Run in 14:57 and Geoffrey Kiprotich, of Toledo, Ohio, won the 10K in 30:54. Chemtai Rionotukei, of Lansing, was the fastest woman finisher in the 5K (16:45) and the 10K (35:09).

The first race Jauch and Chelsea did together was the Reeds Lake Run six years ago.

"It was a big deal for me just because this was our first race together," Jauch said of running in the event. "It was a plan that (Jauch and Chelsea) had this summer to do this race again."

Kirk Bierens and Josh Neumann, friends of Jauch's, ran with Jauch to support his charity.

"It was an inspiring story," Neumann said. "How inspiring it was for his daughter, who had severe disabilities, respiratory situation, but yet she could run with him and not have any of those."

Jauch said he currently is working on getting nonprofit tax exempt status with his charity. He said it could take anywhere from six months to a year to get, but it doesn't mean he can't start accepting funds for the International Rett Syndrome Foundation (IRSF) and the Epilepsy Foundation.

"We are hoping over the next year get to start reaching out to other schools if they have any needs with carts," Jauch said. "Just trying to help people not be so trapped in the normal thinking. It's way too scary. Even functioning people with epilepsy have a hard time doing stuff.

"Encouraging people to do stuff is what we want to do."

Jauch competed in the Grand Rapids Triathalon on June 9 without Chelsea. Even though Chelsea wasn't physically present, he knows Chelsea is with him while he runs.

"My whole goal is to carry out the plans we had this for year," Jauch said of running in the Reeds Lake run. "Not stop, even though I'm not pushing her in any races. I know she is running alongside me.

"Now she is able to run, and I know it."

For more information on Jauch's charity, you can visit the Running with Chelsea website.

Running with the pack

New to the Reeds Lake Run this year was a 5K Shaggy Pines Doggie Dash. Participants were allowed to walk or run with their dogs as long as the dogs were on a leash.

Craig Alguire, of Grand Rapids, won the event in 18:42 out of 54 participants.

Kyle Reamer, who finished second (20:21), said this is the second time he has done a race with his dog, Indy, an Australian Shepherd.

"Usually, I just run the race," Reamer, a recent graduate of Greenville said, "but today, since it was the first Doggie Dash, I figured that would be kind of cool to run with your dog."

Reamer said Indy ran well with him, but it was a bit congested near the 2-mile marker, where there were people still running from the 5K that started earlier.

Connor Couch, 8, ran in his first 5K with his dog, Siobhan, and mother, Lisa Couch.

"She did really good," Connor Couch said of Siobhan. "She could have ran faster."

Email Tom Mitsos: tmitsos@mlive.com or follow him on Twitter: twitter.com/tom_mitsos.

Living with Rett Syndrome: Eye gaze is a game-changer, except it's not a game - The Independent (blog)

My husband is the technical mind in our house. He will happily mooch around Maplin or Currys for hours, become childishly excited over new apps, and find therapy in sorting through boxes of cables which, to me, appear entirely identical. I suspect this is not peculiar to our household alone.

I know several women who, like me, are bemused by their husband's ability not only to be utterly absorbed by domestic cabling solutions, but to become truly animated when given the chance to discuss said cables with another human being. Only last week, my undisguised disinterest in the new system of complex technical connections in our house, was lamented as 'boring'.

Yet, whilst I struggle to feign sincere excitement about the process, I have realised and concede that I am increasingly dependent on the outcome. Our reliance on technology seems to increase almost daily; every new thing we can do very quickly becomes a must do, a necessity, a 'how did we live without this?'. And sometimes, before you know it, it's even become a 'been done'. The technical equivalent of the T-shirt: been there, done that, got the gizmo. What's next?

Take the iPad for example: an innovative and liberating piece of technology with which doors were opened. We applied for and received funding for Hannah to use the iPad as a communication tool. Inevitably, her brothers were adept within weeks (one morning I was forced to ask the two-year-old how to do something. I swear, as he deftly swept the screen and then expertly navigated his way to the requested icon, he actually rolled his eyes).

Hannah's deteriorating hand function and resulting frustration at not being able to make precise choices, made it less useful than we had hoped as a communication aid. But it remained invaluable as a mobile entertainment system, a tool in the 'peaceful cup of tea' work box. And then the iPhone arrived. Everything the iPad could do, but, as the two-year-old would say, a 'tiny one'. The possibilities start growing.

Of course, my husband being the geek he is, several highly efficient technical devices operating individually in our household is not enough. No, they must all be connected wirelessly and operate as some kind of telepathic technical team. Since he knows how to do this, he does it, and though I yawn and roll my eyes as he talks me excitedly through the process, it is hard to deny how clever the result is.

The iPhone is connected to the iPad is connected to the TV is connected to some other crucial component I only ever refer to as 'that black thing' and suddenly, Hannah's favourite music video is playing widescreen on the TV.  Suddenly, the music she loves comes instantly with moving images, familiar faces, hilarious dance moves. Suddenly, Hannah is off the sofa and dancing too. Technology triumphs. And if she can learn to recognize the symbol which belongs to the sound, what then? Well, then it gets really interesting…

Then comes eye gaze. For the uninitiated, eye gaze is exactly the same as a touch screen computer, with the minor exception that instead of touching the images on the screen, you look at them. It's astonishing. After two brief and unfortunately timed trials previously, we began another two week trial with a device last week.

For two years, Hannah has been choosing, with her hands, one photo out of three, for basic decisions such as her breakfast cereal,  what book she would like to read, which activity to do next. She invariably pulls down one photo, but we have never progressed beyond three options, and since hand function is limited and random, the consciousness of the choice has been hard to ascertain.

Eye gaze trial, day one: within five minutes, Hannah has been promoted to a six icon screen. Six. And are her choices conscious? Yes. Yes, they are. I can't even type it without crying. Hannah gets it. Of course (because this is Rett Syndrome, and there is no such thing as a single-edged sword) the tears are not only of joy and relief.

They are also of sadness, fear, guilt. What have we missed in not giving her access to this technology before now? Have we always underestimated her understanding? How much more is locked in? Does she know she's trapped? The old paradox: longing for her to understand; fearing how much she might.

Both my husband and I cried those double-edged tears watching Hannah command the screen last week: choosing her favourite pop song, giggling when it played, staring down the 'stop' button when she'd heard enough. Hannah understands; it is our job, our challenge, to provide  the tools which allow us to understand her.

The challenge is only just beginning: we must convince others involved (those clutching defensively to the shoelaces of those clutching defiantly to the purse strings) that this is worth funding; we must ensure that Hannah's teachers are willing and able to absorb the new technology into school life; we must learn the technology ourselves, crafting it to maximize its, and Hannah's, potential; we must teach two small boys that this is not their toy!

We can do all those things, we will. The iPad, the iPhone, the networks, these things are not essential. Brilliant, useful, entertaining, but not essential. Eye gaze is a game changer. Except it's not a game, it's a life. As far as I'm concerned, it's not optional. If Hannah couldn't see, but some hugely expensive specs would bring her vision, it wouldn't be questioned. If she couldn't hear, but a rather pricey hearing aid would bring her sound, no one would quibble. Those decisions would be, as they say in the movies, slam dunks. So many of Hannah's problems, frustrations, disabilities, relate to her inability to communicate. Eye gaze gives her a voice, a say in her own world; it gives her the chance to be Hannah. Slam dunk.

For more information about Rett Syndrome visit www.reverserett.org.uk

Tagged in: eye gaze, Rett Syndrome

Mum's Teddy Bears' Picnic raises awareness of rare Rett Syndrome Mum's ... - Reading Post

24 Jun 2013 12:25

Helen Simmonds' daughter suffers from the rare neurological disorder

A Teddy Bears' Picnic raised funds for a mother's bid to spread awareness of a life-limiting illness suffered by her daughter.

Helen Simmonds said she was delighted with the £102.60 raised by the Bluebird Nursery in Finchampstead on Wednesday, June 12 for her Fabulous 40 – Fighting to Reverse Rett fund.

Mrs Simmonds launched her campaign on her 40th birthday in February to make more people aware of Rett Syndrome, which affects her daughter Lauren.

She said: "I was thrilled with the money. It was really generous of the parents and the children who made a donation to take their teddy to the picnic."

Rett Syndrome is a neurological disorder caused by a genetic mutation. The condition, which affects mainly girls, targets nearly every aspect of a child's life, leaving them unable to walk, talk or use their hands.

Services for Children with Rett Syndrome is Topic of Associate Professor ... - Seton Hall University News & Events

A speech-language pathologist with more than 30 years of experience, Theresa Bartolotta, PhD, CCC-SLP, shared her knowledge of Rett syndrome with a wide audience through her guest blog post on the website "PrAACtical AAC: Supports for Language Learning." (AAC stands for augmentative-alternative communication, an area of speech-language pathology that teaches compensatory strategies to individuals with severe communication disorders in order to enhance their natural speech abilities and functional communication skills.)

Dr. Bartolotta, an associate professor in the School of Health and Medical Sciences' Department of Speech-Language Pathology and director of assessment for academic affairs in the University's Office of the Provost, specializes in communication disorders i n children with significant disabilities with a special interest in autism and Rett syndrome.

"I began working with individuals with Rett syndrome (RTT) about 15 years ago, and at that time, there was very little information available for clinicians, teachers and families regarding best practices in working with this population," she writes. In her blog post, she discusses the genetic causes, characteristics, assessment of communication, and intervention for individuals with Rett syndrome.

To read the full blog post, visit practialaac.org. Click here to learn more about the Master of Science in Speech-Language Pathology Program at the School of Health and Medical Sciences.

For more information please contact:
Theresa Bartolotta
(973) 275-2916
theresa.bartolotta@shu.edu

The Rett Syndrome protein surrenders some of its secrets - Biology News Net (press release)

Discovery of a mutant gene responsible for a disease is a milestone, but for most conditions, it may be only a first step towards a treatment or cure. Understanding Rett Syndrome, an autism spectrum disorder, is further complicated by the fact that the implicated gene controls a suite of other genes. Two papers, published in today's Nature Neuroscience and Nature, reveal key steps in how mutations in the gene for methyl CpG-binding protein (MECP2) cause the condition. The Rett Syndrome Research Trust (RSRT) funded this work with generous support from partners Rett Syndrome Research Trust UK and Rett Syndrome Research & Treatment Foundation.

Rett Syndrome is a single-gene neurological disorder that affects girls. Development slows during the first year of life, then regresses, as toddlers lose speech, mobility, and hand use. Many girls have seizures, orthopedic and severe digestive problems, as well as breathing and other autonomic impairments. Most live into adulthood and require total, round-the-clock care. Rett Syndrome affects about 1 in 10,000 girls born each year.

The papers result from a collaboration between the labs of Adrian Bird, Ph.D., Buchanan Professor of Genetics at the Wellcome Trust Centre for Cell Biology at the University of Edinburgh, and Michael Greenberg, Ph.D., Department Chair and Nathan Marsh Pusey Professor of Neurobiology at Harvard Medical School.

The Bird and Greenberg labs have been working together since 2011 as members of the MECP2 Consortium along with Gail Mandel, a Howard Hughes Investigator at Oregon Health and Sciences University. The Consortium, launched by RSRT with a $1 million lead gift by RSRT Trustee Tony Schoener and his wife Kathy, fosters novel alliances among leading scientists to interrogate the molecules at the root of the syndrome.

Professor Bird discovered the MeCP2 protein in 1992. In 2007, he showed that affected brain cells in a mouse model of Rett Syndrome can regain function, even in late stages of the disease, suggesting that the disorder is curable. Despite this unexpected breakthrough the function of the Rett protein remains elusive.

In search of the function, the Bird lab set out to identify the key domains of the protein. Mutations found in individuals suffering from Rett led them to their answer. By focusing only on "missense" mutations, which alter a single amino acid, the researchers were able to hone in on two key domains where the mutations aggregated. The first was the well-known methyl binding domain (MBD) which is the site where MeCP2 binds to methylated DNA, thereby modulating the expression of downstream genes. The second key domain is where MeCP2 binds to a molecule called NCoR/SMRT, a large multi-protein machine that shuts down genes. The Bird lab coined this domain the NCoR/SMRT Interaction Domain (NID).

"Further proof of the importance of the MBD and the NID came from mining the genomes of 6503 healthy people. The result was the exact mirror image of the situation seen in Rett. All along the MECP2 gene normal people have non-disease causing alterations, known as polymorphisms. However, no alterations of any kind could be found in the MBD and the NID, indicating that these domains are prized real estate that cannot be tampered with," said Matthew Lyst, postdoctoral researcher and lead author on the Nature Neuroscience paper.

The most frequent Rett mutation in the NID is at amino acid # 306. When the researchers recapitulated the mutation in mice, the animals suffered symptoms similar to girls with Rett. At fault: loss of the interaction between the MeCP2 and NCoR/SMRT proteins and further evidence of the importance of the NID.

"We knew that MeCP2 binds to the genome at methylated sites, but nothing more than that. We now know that its function depends on the ability to bring NCoR/SMRT co-repressors to the DNA," Prof. Bird summed up.

The Nature paper continues the story through another amino acid location, 308, which is very near the 306 mutation in the human version of the gene. Sensory input leads to the addition of a phosphate group at the 308 site and this alters the ability of the MeCP2 protein to interact with the NCoR/SMRT co-repressor, thereby affecting the expression of downstream proteins. The Greenberg lab created mice with a mutation at 308 that are unable to attach a phosphate group. As a result, genes that MeCP2 normally controls are mis-regulated.

"The MeCP2 308 mice have reduced brain weight, motor system abnormalities, and lower seizure thresholds that correspond to the deceleration of head growth, motor system impairments and seizure disorders found in Rett. This suggests that the modification of 308 is critical for the normal function of MeCP2 and its disruption might contribute to Rett," said Daniel Ebert, postdoctoral researcher and lead author on the Nature paper.

Whether the phosphates are added to MeCP2 depends on activity of the neuron. The Greenberg lab has found that in early life, sensory input leads to modification of MeCP2 at multiple sites, including 308. These changes appear to be critical for proper brain development, and their absence in Rett Syndrome may begin to explain what goes wrong in the brains of girls with this devastating disorder.

Each step deciphered in the genetic choreography behind Rett Syndrome is a step towards treatment. "To design an effective small molecule therapy, one needs to understand the underlying mechanisms of how MeCP2 functions and how mutations in MeCP2 lead to disease. Both papers published today make significant progress by providing compelling evidence for dysregulation of the MeCP2-NCoR interaction underlying key aspects of Rett Syndrome," said Prof. Greenberg.

What still isn't known is which genes the co-repressors target. And that will be the next leap in traveling the road from a mutant gene to a little girl who wrings her hands, has seizures and can't talk or walk. Discovering the other molecular events might reveal intersecting or redundant genetic pathways that drug developers can tweak in the search for treatments.

"I am very pleased with the collaborative effort that has resulted thus far from the Consortium. To achieve this amount of progress over such a relatively short period of time attests to the abilities of the Consortium members to freely exchange ideas, and to encourage one another while at the same time providing critical evaluation of the work as it progresses. I look forward with great anticipation to future discoveries," said Monica Coenraads, co-founder and Executive Director of RSRT and mother to a teenaged daughter with the disorder.

Source : monica@rsrt.org