This page compiles a list of active doctors, researchers, and research centers worldwide who are treating USH individuals and/or conducting USH research work from 2020 onwards. The information listed includes:
- Their country
- Sub-type focus (e.g., USH1B, USH2A, USH3B, general Usher syndrome, or related retinitis pigmentosa)
- Contact information (research center, institutional email, or webpage link)
- Whether or not they directly treat patients, and the location of the clinic
- Links to their Usher-related research or lab pages
INDEX
- North America
- Europe
- Asia
- Africa
- Australia
NORTH AMERICA
Edwin M. Stone, MD PhD (USA)
- Professor of Ophthalmology at University of Iowa. University of Iowa Institute of Vision Research
- His lab works on inherited retinal diseases (including all Usher subtypes) and he leads efforts toward stem cell-based therapies, personalized gene therapies, etc.
- Contact: edwin-stone@uiowa.edu
- He sees patients at his University of Iowa clinic. Many Usher Syndrome Coalition members go to his clinic.
- Sources:
- https://ivr.uiowa.edu/
- https://eye.medicine.uiowa.edu/profile/edwin-stone
- members of the Usher Syndrome Coalition
University of Iowa Institute of Vision Research (USA)
- Hospital and research center
- Website: http://ivr.uiowa.edu/
- Project Usher -- "a philanthropically supported program that allows individuals with Usher syndrome who cannot afford commercial genetic testing to obtain a state of the art genetic test"
- IVR Usher Challenge -- a fund-raising "campaign to develop treatments for all forms of Usher Syndrome"
Jennifer J. Lentz, PhD (USA)
- Location: New Orleans, Louisiana, USA
- Associate Professor of Otolaryngology, LSU Health Sciences Center, New Orleans.
- Leads an interdisciplinary Usher research program targeting USH1C (a.k.a Acadian Usher) with antisense, gene-replacement, nanoparticle and CRISPR/Cas9 approaches
- Lab: https://medschool.lsuhsc.edu/
- Contact: jlentz@lsuhsc.edu
- Source: https://medschool.lsuhsc.edu/
- Dr. Lentz is a frequent speaker at the Usher Syndrome Coalition Conferences
Monte Westerfield, PhD (USA)
- Professor of Neuroscience, University of Oregon.
- Uses zebrafish models to screen candidate drugs and test therapies for all Usher subtypes (USH1A-G, USH2A-C, USH3A). He directs the Zebrafish International Resource Center and works on ASO therapies for USH2A and USH1B
- Sources: ushersyndromesociety.org, usher-syndrome.org
Victoria Sui, MD PhD (Canada)
- Expert in USH3B / HARS gene
- Sources:
- USH3B members of the Usher Syndrome Coalition
- https://www.researchgate.net/profile/Victoria-Siu
Timothy Yu, MD PhD (USA) and Gwenaëlle (Gwen) Géléoc, PhD (USA)
- Staff scientists at Boston Children’s Hospital (Harvard Medical School).
- This team develops patient-customized antisense oligonucleotide (ASO) and gene therapies for USH2A (targeting specific exons/pseudoexons) and founder USH1B mutations
- Source: ushersyndromesociety.org
David P. Corey, PhD (USA)
- Professor of Molecular Physiology & Biophysics, Harvard Medical School.
- Leads gene therapy development for USH1F (PCDH15-related) hearing loss
- Contact: dcorey@hms.harvard.edu
- Source: usher-syndrome.org
Maryna V. Ivanchenko, PhD MD (USA)
- HMS Instructor/Harvard Medical School.
- Works with David Corey on USH1F gene therapies; also an ophthalmologist.
- Contact: maryna_ivanchenko@hms.harvard.edu.
Xue Zhong Liu, MD PhD (USA)
- Hotchkiss Chair, Otolaryngology, University of Miami.
- Surgeon–scientist studying genetic hearing loss (including Usher syndrome) and developing gene-/cell-/drug-based therapies (using NGS and genome editing)
- Source: med.miami.edu
Zheng‐Yi Chen, DPhil (USA)
- Associate Professor of Otolaryngology, Mass Eye and Ear.
- His lab focuses on gene therapy and genome editing for inherited hearing loss (e.g. creating CRISPR treatments and animal models)
- Contact: zheng-yi_chen@meei.harvard.edu.)
- Source: brain.harvard.edu
Mass Eye and Ear (USA)
- Location: Boston, Massachusetts, USA
- Hospital and international research center for diseases of the eyes, ears, head and neck. A teaching hospital of Harvard Medical School. Founded in 1824.
- Website: https://masseyeandear.org
- Source: many USH members go there for USH treatment
EUROPE
Christine Petit, PhD (France)
- CNRS Distinguished Scientist at Collège de France/Pasteur Institute (Paris).
- Pioneered molecular genetics of deafness; discovered the first Usher gene (USH1C/harmonin). Focuses on genetic basis of hearing and Usher syndrome (primarily USH1)
- Source: pasteur.fr
Vasiliki (Vaso) Kalatzis, PhD (France)
- Vision Team, Institut des Neurosciences de Montpellier.
- Developing gene‐delivery vehicles for USH2A, the largest Usher gene, using patient-derived retinal “mini-organoids”. Her work targets therapies for USH2A-related retinitis pigmentosa.
- Source: ushersyndromesociety.org
.
Prof. Dr. Uwe Wolfrum (Germany)
- Johannes Gutenberg University Mainz.
- Cell biologist studying photoreceptor cell biology in Usher. His group generated a USH1B/1C pig model and studies USH1B (MYO7A) and USH1C (harmonin) retinal defects.
- Contact: wolfrum@uni-mainz.de
- Source:
Dr. Kerstin Nagel-Wolfrum (Germany)
- JGU Mainz, Usher therapy team.
- Developing gene therapy strategies for Usher; works on USH1B and USH1C models (pig and cell).
- Contact: nagelwol@uni-mainz.de
Suzanne Kohl, PhD (Germany)
- University of Münster.
- Investigates a deep-intronic USH2A mutation and non-coding RNA elements in Usher; leads genome-editing (EDCas9) projects targeting USH2A
- Source: ushersyndromesociety.org
Erwin van Wijk, PhD (Netherlands)
- Radboud University Nijmegen. Director of the Ear and Hearing Research Unit.
- Mentoring Merel Stemerdink’s USH2C (ADGRV1) retinal-organoid project and works on zebrafish models for Usher therapy development
- Source: ushersyndromesociety.org
Merel Stemerdink, MSc/PhD (Netherlands)
- RadboudUMC Nijmegen, group of Dr. van Wijk.
- Focusing on USH2C (ADGRV1) by creating patient-derived retinal organoids and preclinical therapy testing
- Source: ushersyndromesociety.org
ASIA
Hidekane Yoshimura, MD; Maiko Miyagawa, PhD; Shin-ya Nishio, PhD; Shin-ichi Usami, MD PhD (Japan)
- Shinshu University, Matsumoto. Collaborative genetics team.
- Yoshimura/Miyagawa/Nishio (Otolaryngology/Hearing Implants) and Usami (Hearing Implant Science) systematically screen Japanese patients for Usher mutations (USH1A–J, USH2A–D, USH3A) by next-generation sequencing
- Source: nature.com
Subhadra Jalali, MD (India)
- LV Prasad Eye Institute (LVPEI), Hyderabad.
- Retinal specialist studying Usher-related retinitis pigmentosa in India. Led a large EMR-based study of RP in 401 Indian Usher patients, correlating USH1/2/3 clinical subtypes
- Contact: subhadra@lvpei.org
- Source: journals.lww.com
Dr. Anthony Vipin Das, MD (India)
- Srimati Kanuri Santamma Centre, LV Prasad Eye Institute (LVPEI), Hyderabad.
- Vitreoretinal surgeon who co-authored with Subhadra Jalali an Indian Usher RP study.
- Focus: clinical RP/USH in Indian patients.
- Source: journals.lww.com
AFRICA
Lisa Roberts, PhD (South Africa)
- University of Cape Town, Division of Human Genetics.
- Studies the genetic basis of inherited retinal diseases (including Usher). Her recent work identified MYO7A (USH1B) founder mutations in South African patients
- Source: open.uct.ac.za
Raj Ramesar, MBChB PhD (South Africa)
- Professor Emeritus, UCT and Director of the Rare Diseases Genomics Research Unit.
- Leads molecular genetic studies of inherited deaf-blindness in South African cohorts. He co-authored a USH1B mutation study
- Source: open.uct.ac.za
AUSTRALIA
Samuel McLenachan, PhD (Australia)
- Lions Eye Institute, Perth.
- Ocular bioengineer leading a statewide Usher syndrome collaboration. Developing patient-derived retinal and inner-ear organoids to screen gene and drug therapies for Usher
- Source: lei.org.au
Elaine Wong, PhD (Australia)
- Ear Science Institute Australia, Perth.
- Principal researcher generating USH patient-derived organoids (inner ear and retina) to study disease mechanisms and test therapies
- Source: lei.org.au
Livia Carvalho, PhD (Australia)
- Lions Eye Institute, Head of Retinal Genomics.
- Works on Usher genetics and therapy; emphasizes the many USH gene mutations and the need to test multiple personalized treatments
- Source: lei.org.au
Fred Chen, MBBS PhD (Australia)
- Lions Eye Institute, Assoc. Prof. and clinical geneticist.
- Leads the Western Australian Retinal Disease (WARD) study, providing genetic diagnosis and natural-history data for Usher syndrome patients
- Source: lei.org.au
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