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We're Not Gone. We've Moved! Usher Syndrome Blog by Mark DunningJennifer and I are still writing for the Usher Syndrome Blog. We've just integrated the blog in tothe Coalition for Usher Syndrome Research web site. You can continue to follow us here. Mon, Nov 19 2012 A Brief Guide to Teenagers and Usher Syndrome Usher Syndrome Blog by Mark Dunning, IdiotMy daughter turned 14 last month, so she has been officially a teenager for a little over a year. During that time, I have gotten an education on teenagers, an experience cast by the prism of Usher syndrome. Bella has Usher syndrome type 1b. I know that the combination of Usher syndrome and teenagers gives most parents hives, so I thought I... Sun, Nov 04 2012 Interpreting the data on Usher syndrome and Psychosis: Is... Usher Syndrome Blog by Jennifer Phillips, Ph.D.Since my return to blogging with an analysis of recent peer-reviewed literature on Usher research, another paper that will probably have relevance to a lot of our blog readers has come to my attention. In contrast to those first two papers on new Usher genes, however, this one isn’t exactly a cause for celebration. The article, just pub... Thu, Oct 18 2012 Adding to the list: Recent Publications Describing Two New... Usher Syndrome Blog by Jennifer Phillips, Ph.D.As you may have noticed, I’ve been on a blogging hiatus for the past several months, but I’m back in the groove now with high hopes for more regular contributions. In the past couple of months, two papers have come across my desk that I immediately filed under “blog fodderâ€â€”reports of two new human genes that are linked to cases o... Mon, Oct 08 2012 Don’t worry about it Usher Syndrome Blog By Mark DunningIt is not easy for a professional to deliver bad news to a family. Doctors and genetic counselors are people, too. They have parents. They have children. They understand the impact of a diagnosis like hearing loss or Usher syndrome. They don’t want to hurt or upset the family. It is human nature to try to soften the blow. Reading the blog... Wed, Sep 19 2012 Failure is Not an Option Usher Syndrome Blog by Mark DunningI was reading the last post from our guest blogger, Elise, and I was struck by one sentence in particular. Referring to about her son’s diagnosis, she wrote “Two weeks later, he failed the hearing test again.â€Â To explain why that particular phrase stuck with me, let me tell you three quick stories involving some other well-meaning, kind heart... Wed, Sep 12 2012 Hunter's Story Usher Syndrome Blog By Elise FaucheauxEditor's Note: From time to time we invite guest bloggers to share their Usher syndrome stories and insights. Elise Faucheaux is 28 years old and currently lives in Youngsville, Louisiana with her husband Blair and their son 18 month old son Hunter.When I was a little girl, I remember playing with all of my cousins at my Maw Maw’s house. I rem... Fri, Sep 07 2012 Anxiety and Usher Syndrome Usher Syndrome Blog by Mark DunningThis is your day.You wake with fright. Did you oversleep? It’s been gnawing at you all night. You knew you had to get up early because the car service is coming to pick you up at 8:00 AM and you don’t want to miss it. You slept poorly because you knew you had to get up. Every hour through the night you’d pop up and ask your wife if it was time to ... Tue, Jun 19 2012 The Fourth Symptom Usher Syndrome Blog By Mark DunningWhen someone is diagnosed with Usher syndrome, there are a lot of services offered to address the physical symptoms associated with the disorder. There are hearing aids and cochlear implants, speech therapy and ASL, FMs and loops and closed captioning for hearing loss. There is mobility training and tactile sign and braille and canes and guide dogs for ... Fri, May 18 2012 ARVO Day 4: Miles to go before we sleep Usher Syndrome Blog by Jennifer Phillips, Ph.D.The bulk of the presentations I took in today were reports from clinicians treating Usher patients. I don’t get to interact with clinicians on a regular basis, so it is hugely instructive for me to get their perspective on diagnosis and monitoring of the progressive retinal degeneration seen in Usher syndrome. I’m keenly interested heari... Mon, May 14 2012 Dispatches from ARVO Day 3: Making a Difference Usher Syndrome Blog by Jennifer Phillips, Ph.D."Something must be done beyond giving them a dog, a cane, or a Braille book. We must give those who need it the hope that science is actively probing the affliction robbing them of their sight."—Mildred WeisenfeldHere at ARVO the last events of the day are the award lectures. Each year, several of the most impacting clinicians and scientis... Thu, May 10 2012 Dispatches from ARVO, day 2. Usher Syndrome Blog by Jennifer Phillips, Ph.D.Today was an 11-hour maelstrom* of really good science. Of all the great research stories I heard, there are several that will likely be of interest to our readers: 1. There were two posters there with updated information on the UshStat story. First, from the authors of the mouse studies I reported on previously, the continuation of the anim... Tue, May 08 2012 Dispatches from (pre-)ARVO, Day 1 Usher Syndrome Blog by Jennifer Phillips, Ph.D.Hello once again from sunny Ft. Lauderdale, host of the 2012 ARVO meeting. Ft. Lauderdale sunrise on Friday 5/4/12The ARVO meeting started on Sunday, but I’ve actually been here since last Thursday to attend a pre-ARVO meeting on the topic of Retina Ciliopathies. That was an intensely focused two days, indeed. I have talked about the conne... Tue, May 08 2012 Are we there yet? A clinical trial to test a potential gene... Usher Syndrome Blog by Jennifer Phillips, Ph.D.In my last post, I summarized over a decade of research on the putative functions of the USH1B protein, MYO7A, in retinal cells. I did this in hopes that the forthcoming descriptions of the preclinical and clinical trials for this therapy would have a bit more relevance, so do let me know how that works out for you. Here goes: At last yearâ€... Thu, May 03 2012 Prelude to a Gene Therapy Report: Everything you ever... Usher Syndrome Blog by Jennifer Phillips, Ph.D.One of the many nice things about living in Oregon is the referred prestige of sharing a State with the Casey Eye Institute at Oregon Health Sciences University. Casey is the premier facility in the state for visual problems of all kinds and the clinicians there serve the majority of Usher patients in Oregon. Beyond the excellent clinical ca... Thu, Apr 05 2012 The Bella Chronicles Part VI: The Conclusion Usher Syndrome Blog by Mark DunningFor the past several posts, I’ve been writing about my daughter Bella and her difficulties in school. To summarize, Bella has always been a good student who loved school. This year she entered seventh grade and something changed. Suddenly she was very reluctant to go to school and was extremely stressed. Ultimately the problem was that she wasn’t ad... Wed, Mar 28 2012 Coalition for Usher Syndrome Research now on Facebook! Usher Syndrome Blog Some of you have already noticed the little Facebook widget on the right-hand side of this page, but for those of you who haven’t, please join us in the colossal time vacuum that is social media! We’re planning to use this page to link to blog posts and other articles of interest to our community, but we’d love to host any and all community interaction there as ... Wed, Mar 14 2012 The Bella Chronicles, Part V: Reasons to Advocate Usher Syndrome Blog by Mark Dunning My daughter Bella is thirteen years old. She is in the first year of middle school and has had a very hard time. With her permission, I have been writing about her experiences and what we did as a family to address the issues. You can read the previous posts here (Part I, Part II, Part III, Part IV)Ultimately the biggest factor in Bella’s diffi... Fri, Mar 09 2012 “Stem Cell Treatment Cures Blindness?†No, not... Usher Syndrome Blog by Jennifer Phillips, Ph.D.I spend an average of 15-20 hours a week reading scientific literature. Most of this is extremely specialized stuff, pertaining either to my specific area of research or to some detailed experimental method I want to learn more about. However, I’m always on alert for a science story that will have broader appeal to our Usher Blog audience,... Fri, Feb 24 2012 The Bella Chronicles, Part IV: Middle Age Usher Syndrome Blog by Mark DunningI’m 43 years old and smack dab in the middle of middle age. I can tell you from experience that middle age stinks. I don’t see as well as I once did. I had the eyes of a hawk when I was younger. Now I need glasses. When I take Bella to one of her frequent ophthalmologist appointments, I have to squint just to read the same lines on the eye chart tha... Tue, Feb 14 2012 The Bella Chronicles Part III: A Necessary Evil? Usher Syndrome Blog by Mark DunningFor Usher treatments to be found, someone is going to have to take a risk. Someone with Usher syndrome is going to have to be part of a clinical trial. Someone is going to have to be the first human being ever to try a particular treatment. Oh, it will be tested on animals and the researchers will have vigorously studied it. They would never try it unle... Wed, Feb 08 2012 Usher syndrome part IV: Clinical management and research... Usher Syndrome Blog by Jennifer Phillips, Ph.D.Editor's Note: This is part four in a series. Here are the links to parts one, two, and three. We will return to the story of Bella's struggles in school in the next post.The current standard of pediatric care mandating that all newborns undergo hearing screenings has been applied successfully throughout the industrialized world.... Mon, Jan 30 2012 The Bella Chronicles, Part II: The Search for the Source Usher Syndrome Blog By Mark and Bella DunningMy daughter, Bella, is thirteen years old and a good student. She has always loved going to school and was one of those kids that teachers described as a joy to have in class. She is even tempered and rarely gets upset.So why was she crying every day before school?In the first part of this series I wrote about Bella’s history in detail and w... Fri, Jan 13 2012 The Bella Chronicles, Part I Usher Syndrome Blog by Mark DunningI haven’t been very active in writing for this blog recently. There are a lot of reasons involved, but the biggest has been my daughter, Bella. She’s been having a tough time. I have spent a good amount of time trying to help her, which is part of the reason I have not written lately. But her problems have also shaken my confidence considerably. It Thu, Jan 05 2012 The Anxiety of Deliverance Usher Syndrome Blog A Poem by Mani G. IyerEditor's Note: Jennifer and Mark will be back after the holidays. Mani G. Iyer was born and raised in Bombay, India and has lived in the United States since 1985. He is deaf-blind due to Usher Syndrome. He became deaf by the age of 4, night-blind by the age of 12, and now has very little usable visionA whole fifteen minute... Tue, Dec 20 2011 The Cane Usher Syndrome Blog by Mark Dunning“The only thing we have to fear is fear itself.” – Franklin Delano RooseveltIt’s hard to believe that I am afraid of a white folding piece of aluminum, especially when there’s a little rubber ball on the end of it or maybe a tennis ball. Yet the cane scares me and it should scare you, but not for the reasons you think. I was walking with a fri... Wed, Oct 19 2011 Usher syndrome, part III: The Plot Thickens Usher Syndrome Blog by Jennifer Phillips, Ph.D.The time has come to delve into the retinal component of Usher syndrome. In Part II, I briefly described the results of protein localization studies, in which most members of the Usher cohort were found at the connecting cilium of the photoreceptor and at the photoreceptor synapse. The following diagram summarizes these findings: Adapted fro... Thu, Oct 06 2011 Where Have I Been? Usher Syndrome Blog by Mark DunningMy apologies for not posting recently, but I have excuses (yes, not a single excuse, but multiple excuses).Excuse #1: The Usher Syndrome RegistryBack in January, I wrote about the need for an Usher syndrome registry and what it might look like. The gauntlet was picked up by a gentleman with Usher syndrome who was also a programmer. He and a few oth... Thu, Sep 29 2011 Usher syndrome, Part II: a complex molecular picture Usher Syndrome Blog by Jennifer Phillips, Ph.D.In Part I I gave a rough overview of Usher syndrome and went over a bit of cell physiology of auditory and visual sensory cells. In this post, I’ll introduce the molecules known to be affected in Usher patients, and begin to describe what is known about their function.As mentioned previously, variations in the clinical presentation of Usher ... Fri, Aug 12 2011 The Only Certainty Usher Syndrome Blog by Mark DunningForever is composed of nows. ~Emily DickinsonI have a friend with Usher syndrome. She worries about it. I know she does. I can see it in the way her eyes brighten when we talk about potential treatments. I can feel it in her enthusiasm for knowledge about the disease. Yet she does not live like someone who worries about Usher syndrome. She stubbornly re... Mon, Aug 01 2011 Usher syndrome Part I, 2011 edition: An introduction to... Usher Syndrome Blog by Jennifer Phillips, Ph.D.Note: this is the first of a four-part installment on the science of Usher syndrome. This series was posted on the Usher Syndrome Coalition Website and the ScienceBlogs network a few years ago, but given the amount of specific Usher science we discuss here on our blog, it may be helpful to readers to have these resources ‘in house’. Part I g... Mon, Jul 25 2011 The Cure? Usher Syndrome Blog by Mark DunningWhat if Usher syndrome no longer existed? What if it went the way of Polio and Small Pox? But as with the Polio and Small Pox vaccines, this treatment would not change the fate of those of us who already have Usher syndrome. In short, we’d be the last, a people destined to be a footnote in the history books. How would you feel if no one was ever born wi... Mon, Jul 18 2011 Science, Truth, and Choices Usher Syndrome Blog by Jennifer Phillips, Ph.D.Here’s my somewhat belated follow up to Mark’s last post regarding the unanswered questions about Vitamin A as a potential treatment for Usher syndrome. I regret that in doing so, I may be igniting another Summer Debate conflagration, but I would be remiss if I didn’t attempt some response to Mark’s complaints that the ‘scientific community’... Tue, Jun 14 2011 Third Annual Usher Syndrome Family Conference Usher Syndrome Blog by Mark DunningThe Coalition for Usher Syndrome Research in conjunction with the Usher Syndrome Foundation and the Decibels Foundation will be holding a third annual Usher Syndrome Family Conference this July 8th in at the Host Hotel in Sturbridge Massachusetts. The conference is an excellent opportunity to meet other Usher families and to network with some of the lea... Wed, Jun 08 2011 The Snake Oil Salesman’s Guide to Vitamin A Usher Syndrome Blog by Mark DunningYou should take vitamin A. You should give it to your children. You should take it, of course, in a dose that is safe and prescribed by a physician, but you should take it. My daughter takes vitamin A and her vision has not changed perceptibly in the last four years. I have a friend who has two daughters that take vitamin A. Their vision has not changed... Mon, May 16 2011 Dispatches from ARVO: Day 5 Usher Syndrome Blog By Jennifer Phillips, Ph.D. The last day of the ARVO meeting was short and sweet, and the very last presentation I saw before heading to the Ft. Lauderdale airport was the one I’m choosing to recap here. The talk was by Hari Jayaram of the University College London’s Institute of Ophthalmology , who described a collaborative research project in which cultur... Fri, May 06 2011 Dispatches from ARVO: Day 3 Usher Syndrome Blog By Jennifer Phillips, Ph.D.Today’s cool Usher science story comes from Kate McCaffrey and colleagues at Rosalind Franklin University, who are making some interesting discoveries about a new potential therapy for Usher type 1C. In the past when we’ve talked about gene replacement therapy, the focus has been to find ways of replacing a gene product that is absent or fau... Tue, May 03 2011 Dispatches from ARVO: Day 2 Usher Syndrome Blog by Jennifer Phillips, Ph.D.Today was a 12-hour juggernaut of talks, poster presentations (mine included) and really good scientific and social conversations. While many of these situations would make great blog fodder, one series of talks really had the wow factor. This session was entitled “Optogenetics, Visual Function and Restoration”. I’ll skip over the highly tec... Tue, May 03 2011 Dispatches from the ARVO Annual Meeting: Day 1 Usher Syndrome Blog By Jennifer Phillips, Ph.D.Hello readers! I’m here in sunny Ft. Lauderdale attending the Association for Vision Research and Ophthalmology meeting—that’s right the teeming nerd hordes are at it again. But rather than waiting until the end for a long, post-hoc recap as we’ve done with past scientific meetings, this time I thought I’d try to mix it up with some short, p... Mon, May 02 2011 My Fault Usher Syndrome Blog by Mark Dunning“Those who dare fail miserably can achieve greatly.” – John F. KennedyMy daughter has Usher syndrome because of me. She has my genes. I gave them to her. I gave her the mutation that causes a certain protein to be produced incorrectly. I am the reason she was born deaf. I am the reason she can’t walk a balance beam. I am the reason her vision is getting... Wed, Apr 13 2011 Valproic Acid and Retinitis Pigmentosa: Testing a new use... Usher Syndrome Blog by Jennifer Phillips, Ph.D.In the summer of 2010, a small observational study of the effects of Valproic Acid was published online in the British Journal of Ophthalmology1. This study reported on seven patients with autosomal dominant retinitis pigmentosa (ADRP) who were given daily doses of a drug called (in its generic form) Valproic Acid, or VPA. According to the a... Mon, Apr 04 2011 What You Should Tell Your Child About Usher Syndrome Usher Syndrome Blog by Mark DunningIn the last post we discussed when to tell your child that he or she has Usher syndrome. The conclusion of that post, in short, was when you are emotionally ready to discuss it, discuss it. I don’t care if your child is 15 months or 15 years. Talk about it as soon as you, the parent, can handle it because your child is already able to handle it. You jus... Tue, Mar 15 2011 When Should You Tell Your Child That He Or She Has Usher... Usher Syndrome Blog by Mark Dunning Thanks to genetic testing, we are now able to identify children with all types of Usher syndrome at a much younger age. This is a good thing for a lot of reasons (which you can read here, here, and here). It also presents an unexpected challenge for parents. When should you tell your child that he/she has Usher syndrome and what, exactly, should you te... Fri, Mar 04 2011 New Horizons: Modeling Usher gene therapy treatments in... Usher Syndrome Blog by Jennifer Phillips, Ph.D.A study published in the journal Investigative Ophthalmology and Vision Science this month reports on a study that could lay the groundwork for a clinical trial at some point in the future. The laboratory of Jun Yang, at the Moran Eye Center in Salt Lake City, uses mouse models of Usher syndrome to study the molecular basis of the disease. L... Tue, Feb 01 2011 Follow-up On The Need for an Usher Registry Usher Syndrome Blog by Mark DunningThe registry idea is clearly a hit. We’ve gotten more comments on this posting than any other. Rather than respond to each individual comment (and since I clearly forgot some important details), I figured I would do another post with answers to the most common questions.Who would administer the registry?The intention right now is to have the Coalition f... Mon, Jan 24 2011 Why We Need an Usher Syndrome Registry Usher Syndrome Blog by Mark DunningLet’s start with some good news. There are a number of treatments nearing clinical trial that could potentially help people with Usher syndrome. There are an even greater number of areas of interest that researchers think might be the source of future treatments but which are as of yet fairly unexplored. In other words, there’s a lot of hope for the fut... Fri, Jan 21 2011 How to Be a Bad Parent Usher Syndrome Blog by Mark DunningIt’s winter here in Boston and that means runny noses, Nor’easters, and home skating rinks. For those of you in warmer climes, the concept of a home rink is probably foreign so I’ll explain how it works.1) Pick out a spot in your yard which is open and grassy for your home rink. This spot will soon be open and not so grassy.2) Put up a veritable shanty ... Tue, Jan 11 2011 Should Auld Acquaintance Be Forgot? Usher Syndrome Blog by Jennifer Phillips, Ph.D. It’s New Year’s Eve as I write this. The end of a week of feasting, hilarity, family bonding and general merry-making is nigh, and we have just one final celebration in to get through before we start reinstating regular bedtimes, diets, and schedules again. I haven’t been completely out of touch with the world of science, however, as I’ve b... Wed, Jan 05 2011 The Gift Usher Syndrome Blog by Mark DunningI spend a lot of time in this blog writing about the desperation of Usher syndrome. I write about the fear that we all feel, the fear of what the disease might one day take from us. But it’s the holiday season s and for today, I’d like to talk about the flip side of that fear. I want to talk about the gift of Usher syndrome. First a quick story:I met a ... Tue, Dec 21 2010 Mentor torment
Usher Syndrome Blog by Jennifer Phillips, Ph.D.Time passes in the research lab marked by scientific conferences, submission deadlines, and project completion. There’s not much awareness of the academic calendar for those of us who don’t teach regularly, but from time to time we host a new graduate student for a 12-week stint that corresponds to our academic quarter system, which tends to... Tue, Dec 07 2010 |
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