All Archived Science News
Researchers from the National Institute on Deafness and Other Communication Disorders (NIDCD) and Johns Hopkins University School of Medicine showed that gene therapy was able to restore balance and hearing in genetically modified mice that mimic Usher Syndrome.
Kevin Isgrig, Jack W. Shteamer, Inna A. Belyantseva, Meghan C. Drummond, Tracy S. Fitzgerald, Sarath Vijayakumar, Sherri M. Jones, Andrew J. Griffith, Thomas B. Friedman, Lisa L. Cunningham, Wade W. Chien
For more information on this study: http://www.cell.com/molecular-therapy-family/molecular-therapy/fulltext/S1525-0016(17)30013-8
Foundation Fighting Blindness Press Release (Columbia, MD) - A Cautionary Tale About the Need to Educate Patients and Advance Research to Produce Treatments with Proven Efficacy, Says Foundation Fighting Blindness
Harvard Stem Cell Institute (HSCI) researchers at Brigham and Women’s Hospital (BWH) and Massachusetts Eye and Ear Infirmary and colleagues from Massachusetts Institute of Technology (MIT) have developed an approach to replace damaged sound-sensing hair cells, which eventually may lead to therapies for people who live with disabling hearing loss.
Allergan and Editas Medicine have made an alliance to work with the gene-editing CRISPR to help prevent vision deterioration.
In this study, researchers introduced CRISPR into retinal cells, tested this genome tool to remove the Nrl gene in mice and three different mouse models of retinal degeneration. By measuring gene expression and examining the retinal cells, the researchers confirmed that rods became more cone-like, as predicted which allowed for rod degeneration to be prevented or slowed.
Yu W, Mookherjee S, Chaitankar V, Hiriyanna S, Kim JW, Brooks M, Ataeijiannati Y, Sun X, Dong L, Li T, Swaroop A, Wu Z
For more information on this study: http://www.nature.com/articles/ncomms14716
Scientists have developed a retinal implant that can restore lost vision in rats, and are planning to trial the procedure in humans later this year. The implant, which converts light into an electrical signal that stimulates retinal neurons, could give hope to millions who experience retinal degeneration – including retinitis pigmentosa – in which photoreceptor cells in the eye begin to break down, leading to blindness.
Researchers are working to find how fish can regenerate their eyes after they have been injured and if there is a way to make this happen the same way in a human eye.
Scientists from Brigham and Women’s Hospital (BWH), MIT, and Massachusetts Eye and Ear believe they may have found a way to treat hearing loss by regenerating hair cells in the inner ear and hope to begin clinical trials in 18 months.
The prestigious Institute of Ocular Microsurgery in Barcelona implanted the first patient in Spain with IRIS® II, a bionic vision system equipped with a bio-inspired camera and a 150-electrode epi-retinal implant that is designed to be explantable.
Not just Star Trek fiction, a new visor from eSight is a lightweight, high-contrast vision system for legally blind people.
Chimeras are incredibly useful for understanding how animals grow and develop. They might one day be used to grow life-saving organs that can be transplanted into humans.
Lukas D Landegger, Bifeng Pan, Charles Askew, Sarah J Wassmer, Sarah D Gluck, Alice Galvin, Ruth Taylor, Andrew Forge, Konstantina M Stankovic, Jeffrey R Holt & Luk H Vandenberghe.
Two back-to-back papers in Nature Biotechnology describe how a team at Boston Children's Hospital and Harvard Medical School developed a new vector for gene delivery and restored hearing and balance in a mouse model with the Ush1c mutation.
Bifeng Pan, Charles Askew, Alice Galvin, Selena Heman-Ackah, Yukako Asai, Artur A Indzhykulian, Francine M Jodelka, Michelle L Hastings, Jennifer J Lentz, Luk H Vandenberghe, Jeffrey R Holt& Gwenaëlle S Géléoc.
Working with a mouse model of a human mutation, Dr. Gwen Géléoc and colleagues delivered a normal copy of the USH1C gene to the inner ear soon after the mice were born, which led to robust improvements enabling profoundly deaf and dizzy mice to hear sounds at the level of whispers and recover proper balance function.
The FDA has granted GenSight’s developing drug, GS030, Orphan Drug Disease Designation for the treatment of retinitis pigmentosa.
Researchers have discovered a holy grail of gene editing -- the ability to, for the first time, insert DNA at a target location into the non-dividing cells that make up the majority of adult organs and tissues. The technique, which the team showed was able to partially restore visual responses in blind rodents, will open new avenues for basic research and a variety of treatments, such as for retinal, heart and neurological diseases.
Frederic F. Depreux, Lingyan Wang, Han Jiang, Francine M. Jodelka, Robert F. Rosencrans, Frank Rigo, Jennifer J. Lentz, John V. Brigande and Michelle L. Hastings.
ASO delivery to the intra-amniotic cavity modulates neonatal gene expression and may serve as a therapeutic intervention in itself or when paired with a suitable postnatal therapeutic strategy. Further optimization of the method will broaden the potential impact and applicability of this approach.
Qing Fu, Mingchu Xu, Xue Chen, Xunlun Sheng, Zhisheng Yuan, Yani Liu, Huajin Li, Zixi Sun, Huiping Li, Lizhu Yang, Keqing Wang, Fangxia Zhang ,Yumei Li, Chen Zhao, Ruifang Sui, Rui Chen.
This study aimed to identify the novel disease-causing gene of a distinct subtype of Usher syndrome.
Zong, Chen, Wu, Liu, Jiang.
Identification of novel mutation in compound heterozygosity in MYO7A gene revealed the genetic origin of Usher syndrome type 2 in this Han family.
Tongchao Li, Nikolaos Giagtzoglou, Dan Eberl, Sonal Nagarkar-Jaiswal, Tiantian Cai, Dorothea Godt, Andrew K Groves, Hugo J Bellen.
Myosins play essential roles in the development and function of auditory organs and multiple myosin genes are associated with hereditary forms of deafness. Our work reveals a novel mechanism that regulates protein complexes affected in two forms of syndromic deafness and suggests a molecular function for Myosin IIa in auditory organs.
João Carlos Ribeiro, Bárbara Oliveiros, Paulo Pereira, Natália António, Thomas Hummel, António Paiva & Eduardo D. Silva
Study aimed at identifying and characterizing putative differences in olfactory capacity between patients with USH and controls, as well as among the subtypes of USH.
Kumar N Alagramam, Suhasini R Gopal, Ruishuang Geng, Daniel H-C Chen, Ina Nemet, Richard Lee, Guilian Tian, Masaru Miyagi, Karine F Malagu, Christopher J Lock, William R K Esmieu, Andrew P Owens, Nicola A Lindsay, Krista Ouwehand, Faywell Albertus, David F Fischer, Roland W Bürli, Angus M MacLeod, William E Harte, Krzysztof Palczewski & Yoshikazu Imanishi.
A new study published in Nature Chemical Biology reports the first small molecule targeted therapy for progressive hearing loss in a mouse model of USH3, an USH classified by progressive loss of hearing and vision starting in the first few decades of life along with variable balance disorder.
Guilian Tian, Richard Lee, Philip Ropelewski, and Yoshikazu Imanishi
The purpose of this study was to obtain an Usher syndrome type III mouse model with retinal phenotype.
Researchers study genotype–phenotype correlations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP.
In the next month, scientists from RetroSense Therapeutics will inject a virus deep into the retina of legally blind human volunteers. If this works, it means that optogenetics — a revolutionary neuroscience technique using channelrhodopsin-2 and other light-activated proteins — is feasible in humans as therapy.
Astra Dinculescu , Rachel M. Stupay , Wen-Tao Deng, Frank M. Dyka, Seok-Hong Min, Sanford L. Boye, Vince A. Chiodo, Carolina E. Abrahan, Ping Zhu, Qiuhong Li, Enrica Strettoi, Elena Novelli, Kerstin Nagel-Wolfrum, Uwe Wolfrum, W. Clay Smith, William W. Hauswirth.
The ongoing challenge to develop an animal model mimicking the effects of Usher III (in particular, the loss of vision) makes it impossible for researchers to test therapies in development using conventional means. This study has important implications for designing gene therapy studies in a rational manner, to produce Clarin-1 in the correct cell type and at levels that mimic its natural production.
Hidekane Yoshimura, Maiko Miyagawa, Kozo Kumakawa, Shin-ya Nishio, and Shin-ichi Usami.
This first report describing the frequency (1.3–2.2%) of USH1 among non-syndromic deaf children highlights the importance of comprehensive genetic testing for early disease diagnosis.
Maha S. Zaki, Raoul Heller, Michaela Thoenes, Gudrun Nürnberg, Gabi Stern-Schneider, Peter Nürnberg, Srikanth Karnati, Daniel Swan, Ekram Fateen, Kerstin Nagel-Wolfrum, Mostafa I. Mostafa, Holger Thiele, Uwe Wolfrum, Eveline Baumgart-Vogt, Hanno J. Bolz.
This paper found that a family with severe enamel dysplasia that was initially diagnosed with Usher syndrome didn’t have Usher syndrome but instead had mutations in the PEX6 gene.
Lichun Jiang, Xiaofang Liang, Yumei Li, Jing Wang, Jacques Eric Zaneveld, Hui Wang, Shan Xu, Keqing Wang, Binbin Wang, Rui Chen and Ruifang Sui.
Researchers applied next generation sequencing to characterize the mutation spectrum in 67 independent Chinese families with at least one member diagnosed with USH.
Zhai, Jin, Gong, Qu, Zhao, Li
Ophthalmic examinations and audiometric tests were performed to identify the pathogenic mutations in a Chinese pedigree affected with Usher syndrome type II (USH2), which revealed distinguished clinical phenotypes associated with MYO7A and expanded the spectrum of clinical phenotypes of the MYO7A mutations.
Massachusetts researchers have made a significant advancement toward a gene therapy treatment that would reverse deafness.
Researchers investigated the proportion of exon deletions and duplications in PCDH15 and USH2A in 20 USH1 and 30 USH2 patients from Denmark.
Debra A. Thompson, Robin R. Ali, Eyal Banin, Kari E. Branham, John G. Flannery, David M. Gamm, William W. Hauswirth, John R. Heckenlively, Alessandro Iannaccone, K. Thiran Jayasundera, Naheed W. Khan, Robert S. Molday, Mark E. Pennesi, Thomas A. Reh,Richard G. Weleber, David N. Zacks, and for the Monaciano Consortium.
The present position paper outlines recent progress in gene therapy and cell therapy for this group of disorders [retinal dystrophies], and presents a set of recommendations for addressing the challenges remaining for the coming decade.
Rajarshi Ghosh, Wang Likun, Eric S. Wang, B. Gayani K. Perera, Aeid Igbaria, Shuhei Morita, Kris Prado, Maike Thamsen, Deborah Caswell, Hector Macias, Kurt F. Weiberth, Micah J. Gliedt, Marcel V. Alavi, Sanjay B. Hari, Arinjay K. Mitra, Barun Bhhatarai, Stephan C. Schürer, Erik L. Snapp, Douglas B. Gould, Michael S. German, Bradley J. Backes, Dustin J. Maly, Scott A. Oakes, and Feroz R. Papa.
Allosteric inhibition of the IRE1α RNase preserves cell viability and function during endoplasmic reticulum stress.
New research shows that modifying a particular protein, IRE1, can put off cell death.
Ben Shaberman provides an overview of emerging therapies for Usher syndrome in the article "Saving Vision for People with Usher Syndrome" in the July/August 2014 edition of Hearing Loss Magazine.
"A highly potent synthetic form of THC, the substance in marijuana that produces a high for users, has shown strong vision-preserving effects in rats with a form of autosomal dominant retinitis pigmentosa (adRP). ”
Dr Liz Ellis and Dr Liz Hodges.
This research report, funded by Sense, presents the lives of people with Usher syndrome, showing the impact of the diagnosis on their experiences; education, communication, employment, friends and family, mobility – across all areas of their lives. This report aimed to explore the questions: What do people with Usher think about having Usher syndrome? What is the effect of change on the lives of people with Usher? What do people with Usher remember of their diagnosis and what impact did it have on them?
Foundation Fighting Blindness' deputy chief research officer, Dr. Brian Mansfield, explains how retinal researchers are working with induced pluripotent stem cells (iPSC), a patient's own skin cells, to gain a better understanding of the RP caused by defects in the gene USH2A. This basic research provides critical information for developing future treatments.
Steele-Stallard, Le Quesne Stabej P, Lenassi E, Luxon LM, Claustres M, Roux AF, Webster AR, Bitner-Glindzicz M..
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing. An overview of a study to improve the molecular diagnosis in families with USH2A by screening USH2A for duplications.
Berth Danermark, Claes Moller, Kerstin Moller, Moa Wahlqvist.
The objectives of the study reported here were to describe the physical and psychological health of persons with Usher syndrome Type II (USH2) and to explore any differences in terms of gender.
Researchers at the University of Wisconsin-Madison developed an innovative process to transform skin cells into retinal cells — cells that hold great promise for restoring vision.
Danish research by Ph.D. Jesper Dammeyer, in cooperation with educational consultant Bente Ramsing, shows that more than half of all children with Usher Syndrome develop symptoms of psychosocial dissatisfaction before the age of 18.
Jennifer J Lentz, Francine M Jodelka, Anthony J Hinrich, Kate E McCaffrey, Hamilton E Farris, Matthew J Spalitta, Nicolas G Bazan, Dominik M Duelli, Frank Rigo & Michelle L Hastings
New research shows that hearing and vestibular function can be rescued in a mouse model of Usher 1c using an antisense oligonucleotide.
A new study questions whether gene therapy to treat Leber congenital amaurosis type 2 (LCA2) actually saves the rods and cones, the photoreceptor cells that provide vision.
According to scientists at Washington University School of Medicine in St. Louis, "Doctors may one day treat some forms of blindness by altering the genetic program of the light-sensing cells of the eye."
"Ray of hope for human Usher syndrome patients": Uwe Wolfrum and his colleagues at Johannes Gutenberg University Mainz are increasing our understanding of Usher syndrome.
Three patients have been treated so far with no serious adverse events after six months. They have been allowed to proceed to delivering a larger dose to the next group of patients.
A team of researchers from multiple institutions reported a novel type of gene (CIB2) associated with Usher syndrome in the November 2012 issue of Nature Genetics.
BioDiem has strengthened the preclinical case for its BDM-E eye disease drug with further positive results from formal studies that will help progress out-licensing opportunities for the drug. BDM-E has received Orphan Drug designation from the United States Food and Drug Administration for the treatment of the inherited degenerative eye disorder, retinitis pigmentosa.
ReNeuron, a stem cell development company in the United Kingdom, is planning to file for regulatory approval in late 2013 to launch a clinical trial of a stem cell treatment for people with retinitis pigmentosa
Researchers conducting a genetic study of Old Order Amish and Mennonite populations have identified five new genes in which defects cause congenital diseases, including a previously unidentified type of Usher syndrome, type 3B.
There have been studies done on the mental health of adults with Usher, but few on children with Usher. This study looked at 26 children in Denmark and investigated the frequency of mental and behavioral issues among the group. Published 27 March 2012.
"Gene therapy 'gave me sight back'" An article from the BBC about the impact of gene therapy on patients with LCA. Similar gene therapies are planned for people with Usher.
"Researchers from the National Institute on Deafness and Other Communication Disorders and the National Eye Institute have now found that an alteration of an Usher gene that causes only deafness can preserve sight and balance when in combination with another alteration of the same gene that causes Usher syndrome, or deaf-blindness. This research has important implications for genetic counselors and may open new prospects for future therapies for vision loss."
This study, conducted in mice modelling the human disease retinitis pigmentosa, showed that the drug norgestrel could "rescue" light-detecting retinal cells. The synthetic progestin hormone, an active component of the contraceptive "mini-Pill," allowed mice which should have gone blind to retain their sight. A new study is now planned for next year to see if humans experience the same protective effects.
The US Food and Drug Administration (FDA) has approved Oxford BioMedica's Investigational New Drug (IND) application for the Phase I/IIa clinical development of UshStat to treat Usher syndrome type 1B. Oxford Biometica will enroll 18 patients with Usher type 1b at the Casey Eye Institute in Portland, Oregon. The study will be lead by Dr. Richard Weleber.
New treatment for nonsense mutations may soon be ready for use in Usher syndrome patients. A molecule known as PTC124 appears to cause the stop signal in a mutated USH1C to be ignored, allowing the protein to be formed normally in cell cultures.
The artificial retina is the first device of its kind to move from the laboratory to the clinic, after a trial of 30 patients has shown that it can safely restore some vision to people who have lost their sight to a genetic disease.
Neurotech announced in Investigative Ophthalmology and Visual Science that their NT-501 implant slowed the loss of photoreceptors in three patients, including one with Usher syndrome type 2.
Researchers in Japan have discovered a way to coax mouse embryonic stem cells into forming an eyelike structure.
Jennifer Phillips, Ph.D., reviewed and put together a 'FAQ' on a small observational study of the effects of Valproic Acid, which was published in the summer of 2010 online in the British Journal of Ophthalmology.
QLT091001 is an orally administered synthetic retinoid replacement for 11-cis-retinal, which is a key biochemical component of the visual retinoid cycle, and is under investigation for the treatment of LCA and RP.
For only the second time, the Food and Drug Administration approved a company’s request to test an embryonic stem cell-based therapy on human patients. Advanced Cell Technology (ACT), based in Marlborough, Mass., will begin testing its retinal cell treatment this year in a dozen patients with Stargardt’s macular dystrophy, an inherited degenerative eye disease that leads to blindness in children.
Some unexpected effects of lead exposure that may one day help prevent and reverse blindness have been uncovered.
A new stem cell therapy is now available to eye patients using subretinal placement of adult stem cells. Initial patients included an individual with Stargardts Disease and a patient with Age Related Macular Degeneration.
EU-funded scientists have succeeded in awakening dormant vision cones, an achievement that may lead to saving millions of people from going blind.
Dr Hanno Bolz says that his team's research challenges the traditional view that USH was inherited as a single gene disorder, and shows that it may result from at least two different genetic mutations.
UC Irvine researchers have created a retina from human embryonic stem cells, the first time they've been used to create a three-dimensional tissue structure. The eight-layer, early stage retina could be the first step towards the development of transplant-ready retinas to treat eye disorders, such as retinitis pigmentosa and macular degeneration.
BOSTON—Providing retinitis pigmentosa patients with lutein plus vitamin A palmitate slowed the loss of midperipheral vision, according to a study out of the Massachusetts Eye and Ear Infirmary, Harvard Medical School (Arch Ophthalmol. 2010;128(4):403-11)
University of California, Berkeley professor of neurobiology, John Flannery, is developing ways to cure genetic diseases of the retina.
A research team funded by the Foundation Fighting Blindness has used cell transplantation to restore vision in a mouse model of Usher syndrome type 2A. . Never before has a cell-based treatment been used to save vision in an Usher syndrome study, in large part because no other Usher syndrome animal models have exhibited vision loss or retinal degeneration. The advancement is a critical step forward in developing a vision treatment for humans with the condition.
This article describes and compares two retinal implants, one being developed in Israel to the one in clinical trials in the U.S. by Second Sight. While they are both implants, they are also very different. Users of the Israeli one would wear just a special pair of glasses, whereas the Second Sight one includes glasses, a camera, and a processor. In addition, surgery for the Israeli one takes much less time and is less invasive. The Israeli inventors also promise much better vision. It is expected to begin clinical trials in 2013.
An international research team led by Columbia Univ. Medical Center successfully used mouse embryonic stem cells to replace diseased retinal cells and restore sight in a mouse model of retinitis pigmentosa.
Researchers have developed an implant that clears out the scar tissue of diseased retinas and seeds new ones. This quickly evolving procedure holds hope for millions of persons with retinitis pigmentosa (RP) and age-related macular degeneration (ARMD).
Researchers at Tufts University School of Medicine and the Sackler School of Graduate Biomedical Sciences at Tufts have developed a new tool for gene therapy that significantly increases gene delivery to cells in the retina.
ScienceDaily — Researchers trying to restore vision damaged by disease have found promise in a tiny implant that sows seeds of new cells in the eye.
Oxford BioMedica, a U.K. partner of the Foundation Fighting Blindness, has received orphan drug designation from the European Medicines Agency (EMEA) for their emerging Usher syndrome gene therapy known as UshStat. The company is planning to launch a clinical trial for UshStat in 2011. The EMEA is the European Union’s regulatory agency for medicinal products. It functions similarly to the FDA in the U.S.
EU-funded scientists have succeeded in awakening dormant vision cones, an achievement that may lead to saving millions of people from going blind. The dormant cones, which normally remain in the eye even after blindness has occurred, were successfully reactivated by an international team of scientists led by the Friedrich Miescher Institute in Switzerland and the Institut de la vision in France.
Less than a month ago, at the 2009 International Electron Devices Meeting (IEDM), researchers from Stanford University presented their solution for a retinal implant that has the potential to restore vision in those who lose sight due to age-related macular degeneration (AMD), retinitis pigmentosa (RP), and certain other retinal disorders. The implant is composed of solar cells embedded in a bed of flexible silicon electrodes that transfer visual images to the brain.
The man had Limbal Stem Cell Deficiency, which is not genetic, but the technology may be applicable to Usher patients in the future.
Gene delivery to mitotic and postmitotic photoreceptors via compacted DNA nanoparticles results in improved phenotype in a mouse model of retinitis pigmentosa.
Unrelated to Usher syndrome, but the successful treatment of two children with ALD, a rare genetic disease, could impact gene therapy as an RP treatment. From NPR: "This marks a high point for the field of gene therapy."
A 9-year-old boy who received gene therapy for Leber congenital amaurosis (LCA) is interviewed on CBS Morning News with his parents and Dr. Stephen Rose of the Foundation Fighting Blindness. The segment includes a before and after video of him navigating a maze.
Pennsylvania researchers using gene therapy have made significant improvements in vision in 12 patients with Leber congenital amaurosis (LCA). The findings may offer hope for those with macular degeneration and retinitis pigmentosa.
Researchers at Trinity College Dublin have reported the development of a new drug delivery system which has the potential to treat degenerative diseases of the retina, including retinitis pigmentosa.
New York Times article outlining a number of experimental treatments being tested to help restore vision. An intensive three-year research project involving electrodes surgically implanted in the eye, a camera on the bridge of the nose and a video processor strapped to the waist is part of a burst of recent research.
Led by electrical engineering professor John Wyatt, team develops retinal implant that could help restore useful level of vision to certain groups of blind people. Inspired by the success of cochlear implants that can restore hearing to some deaf people, researchers at MIT are working on a retinal implant that could one day help blind people regain a useful level of vision.
Report on efforts of a team in Germany to develop an electronic retinal prosthesis.
A new clinical test called the OtoChipTM Test for Hearing Loss and Usher Syndrome was launched by the Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine on June 22, 2009. This test sequences ~70,000 bases of DNA across 19 genes involved in hearing loss and Usher syndrome.
Neurotech Pharmaceuticals, Inc., today announced that the Company's product candidate, NT-501 demonstrated a strong biologic effect in two Phase 2 clinical trials for retinitis pigmentosa (RP)
Very little research-based information exists about the benefits and challenges of cochlear implants for children who are deaf or hard of hearing, who also have a vision impairment. A new study aims to remedy that. This multi-year project will address a number of objectives to begin to provide a research base for more informed decision-making by families and service providers, in relation to cochlear implants for children who are deaf-blind.
The transplantation of stem cells that are capable of producing functional cell types might be a promising treatment for hearing impairment.
It has been discovered that a myosin protein connected to Usher syndrome works differently from many other myosins.
This handbook on stem cell therapies was published in 2008 but is still very relevant today.
According to Reuters, stem cells from tiny embryos can be used to restore lost hearing and vision in animals. This research holds promise for humans.
Aminoglycocides have shown promising effects in cell cultures and may someday be used to suppress mutations involved in Usher syndrome.
By Ilene Miner, CSW and Joe Cioffi, M. Ed. Published by Helen Keller National Center, this study looks at early intervention or involvement of the person with the disability in the process of problem solving, introducing role models, and encouraging the student to take care of him or herself and make independent decisions, which is rarely implemented in work with children, youth, and young adults with Usher syndrome.
Stephen E. Zrada, Kevin Braat, Richard L. Doty, Alan M. Laties
Olfactory testing should be included as a part of test batteries used for comprehensive evaluation of patients with USH1 and USH2, this may aid in the classification of specific genotypic and phenotypic forms, and in the identification of the subset of patients with significant smell deficits, thereby providing the clinician with an opportunity to counsel individuals with USH-related olfactory dysfunction.