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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. ItThu, 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 Living With Ushers Syndrome
Usher Syndrome Blog by Molly WattEditor's Note: Molly has been a guest blogger on this site in the past and wishes to share more of her experiences. Her past posts have been among the best received on the site. It's no wonder. She was recently named 'Young DeafBlind Person of the Year' by SENSE in the United Kingdom. As always, we're thrilled to welcome her ...Mon, Nov 29 2010 All you need to know about the Usher Syndrome and Related...
Usher Syndrome Blog by Mark DunningWell, it’s November and we are still summarizing the International Symposium on Usher Syndrome and Related Diseases that took place in May. That should be heartening for our readers. Obviously a lot happened at the conference.A lot is happening in the real world, too, especially when it comes to diagnosing Usher syndrome and understanding the genetics. ...Thu, Oct 28 2010 Usher Syndrome Working Group in Aalborg Denmark
Usher Syndrome Blog by Mark DunningThanks to Jennifer for carrying the blog while I procrastinated. I do have a partial excuse. I was in Denmark for a few days at the Usher Syndrome Working Group put on by Sense in conjunction with the Acquired Deaf Blindness Network conference. This was my first trip to Denmark. In fact, if I were to list the places I never expected to visit Denmar...Wed, Oct 20 2010 All you need to know about the Usher Syndrome and Related...
Usher Syndrome Blog by Jennifer Phillips, Ph.D.Here I am again to do some of the heavy scientific lifting required for a subset of the talks presented at the Valencia meeting. Last time (link to Part III) I covered the presentations dealing with the molecular and cellular activity of Usher proteins--the factors known to cause clinical Usher syndrome in humans when altered by changes in g...Thu, Oct 07 2010 All you need to know about the Usher Syndrome and Related...
Usher Syndrome Blog by Jennifer Phillips, Ph.D.We’re slowly progressing through the wealth of interesting talks at the Conference last May, and even though I didn’t actually attend the Valencia meeting, I have enough familiarity with the dense molecular topics therein to give an adequate summary and their relevance to the Usher community. My plan is to cover the Usher gene overviews alon...Wed, Sep 15 2010 A Low Cost Solution to a Difficult Problem
Usher Syndrome Blog by Mark DunningJennifer wrote about vitamin A in her last post and gave her opinion on whether or not the studies done to date were enough to warrant prescribing vitamin A in supplement form to patients. My first thought on reading her post was ‘Hmm. I respectfully disagree with her.’ I know the studies and came to a different conclusion. My daughter takes vitamin A s...Thu, Sep 02 2010 Vacation Photos
Usher Syndrome Blog by Mark DunningI need a vacation.Somewhere on Cape CodWe spent last week on Cape Cod. We stay at the same rickety little cabin with the rock hard beds and the 1970 décor. It’s just a half a mile walk from the town beach. It’s a nice beach. It’s not really well maintained and more rocky than sandy, but it’s walking distance and because it’s not a premier location it’s ...Wed, Aug 25 2010 Examining the Science Behind Dietary Supplements for...
Usher Syndrome Blog by Jennifer Phillips, Ph.D.We’ve filled a lot of blog space over the past year discussing ongoing and eminently promising research efforts to find a cure for Usher syndrome. This is a target-rich topic, as you may have observed, with hundreds of researchers all over the globe working toward future treatments. This wealth of potential stands in stark contrast to the pa...Tue, Aug 10 2010 All You Need to Know About the Usher Syndrome and Related...
Usher Syndrome Blog by Mark DunningYikes. I’m way behind on posts. I will respond to Jennifer’s last post soon. First, a quick update on the Usher Syndrome Family Conference held last weekend in Seattle Washington. In a word: Awesome. Some of the leading experts in the world spoke and they all did so at a level that was possible to follow even for the recently diagnosed. They were great....Fri, Jul 16 2010 My First Deafblind Party
Usher Syndrome Blog by Mark DunningWe're heading in to summer so the posts will be more spaced out. Here’s a quick one for you. Julia and I recently attended our first deafblind party and I thought I’d tell you about it.Let me stop there and put this in a larger context. First, I’m a little embarrassed that this is a big deal. I don’t want it to sound like I went to the zoo. These were r...Wed, Jun 30 2010 Solutions, Part I
Usher Syndrome Blog by Mark DunningEditor’s note: This is a planned public debate between Mark Dunning and Jennifer Phillips, the two primary contributors to this blog. The ideas expressed in the posts during this debate will be purposely provocative and unfinished to invite a response from the other party. We hope you find the discussion valuable.It seems like this is a good time to sta...Mon, Jun 14 2010 The Debate Goes Thermonuclear
Usher Syndrome Blog by Jennifer Phillips, Ph.D.Editor’s note: This is a planned public debate between Mark Dunning and Jennifer Phillips, the two primary contributors to this blog. The ideas expressed in the posts during this debate will be purposely provocative and unfinished to invite a response from the other party. We hope you find the discussion valuable.So the good news here is tha...Thu, Jun 10 2010 Usher syndrome Family Conference, July 10, 2010
Usher Syndrome Blog by Mark Dunning (biographical sketches by Karmen Trzupek)Jennifer and I have been debating the difficulty in establishing and maintaining relationships and open communication between researchers, professionals, and families. The family conference in Seattle on July 10th is a great opportunity for families not only to connect with other families, but also to meet and t...Wed, Jun 09 2010 All You Need to Know About the Usher Syndrome and Related...
Usher Syndrome Blog by Mark DunningValencia, Spain is beautiful. I have to confess with my America centric view of the world I knew nothing about Valencia, outside of their football club. Incredible architecture, parks, beaches, and food. Wonderful place. The conference was held in La Ciudad de las Artes y las Ciencias (The city of arts and sciences) in the auditorium of the Science buil...Mon, Jun 07 2010 More Gas for the Fire
Usher Syndrome Blog by Mark DunningEditor’s note: This is a planned public debate between Mark Dunning and Jennifer Phillips, the two primary contributors to this blog. The ideas expressed in the posts during this debate will be purposely provocative and unfinished to invite a response from the other party. We hope you find the discussion valuable.“You Can’t Handle the Truth!” – Jack Nic...Thu, Jun 03 2010 Friendly Fire
Usher Syndrome Blog Editor’s note: This is a planned public debate between Mark Dunning and Jennifer Phillips, the two primary contributors to this blog. The ideas expressed in the posts during this debate will be purposely provocative and unfinished to invite a response from the other party. We hope you find the discussion valuable."Each of us is entitled to his own opinion, but not to ...Fri, May 14 2010 The Experiences of Molly Watt and Her Mum
Usher Syndrome Blog by Molly WattNovember 06 I got diagnosed with Usher Syndrome Type 2 at the age of 12. Just before I finished year6 at primary school (nearly 4 years ago) I was experiencing a lot of daily migraines and headaches. We didn’t think much of it, but it started affecting my daily routine. After mentioning it to various people, they all suggested that I should get an eye che...Fri, May 07 2010 The Fact About Facts
Usher Syndrome Blog by Mark DunningEditor’s note: This is the first salvo in a planned public debate between Mark Dunning and Jennifer Phillips, the two primary contributors to this blog. The ideas expressed in the posts during this debate will be purposely provocative and unfinished to invite a response from the other party. We hope you find the discussion valuable.“Facts all come with ...Thu, Apr 29 2010 The Experiences of Diane Gutierrez
Usher Syndrome Blog by Diane GutierrezEditor's Note: This is the first of several posts featuring guest writers. All have Usher syndrome. They are of various ages and their vision loss is progressing at differing rates. We’ve asked them to tell their stories as a demonstration of the variability of their symptoms and to give a sense of how these symptoms impact their lives.Us...Tue, Apr 13 2010 Introduction of Some Special Guests
Usher Syndrome Blog by Mark DunningAfter writing in parallel for a while about either the science or the personal impact of Usher syndrome, Jennifer and I find ourselves at the interface of these two points of view. Behind the scenes we have been holding a spirited and good-natured debate about communicating Usher syndrome information to patients, the boundaries between hope and false ho...Mon, Apr 12 2010 |
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