USH Talks

In this USH Talk, Marcia Brooks shares an overview of iCanConnect, the National Deaf-Blind Equipment Distribution Program. iCanConnect provides free equipment and training to people with both significant hearing and vision loss who meet federal disability and income eligibility guidelines. iCanConnect is a national program with local contacts.

Speaker Bio: Marcia Brooks directs Perkins School for the Blind’s implementation of the Federal Communications Commission (FCC)’s iCanConnect/the National Deaf-Blind Equipment Distribution Program in 22 states/U.S. territories. She also directs the program’s national outreach, and Perkins’ provision of services to over a dozen additional state iCanConnect programs. Previously, Marcia worked at the WGBH National Center for Accessible Media (NCAM) on federally funded research grants to improve universal access to media for people with disabilities, and earlier held management positions at the Public Broadcasting Service (PBS). Marcia’s advocacy for solutions for people with disabilities includes service on the FCC’s Disability Advisory Committee; Communications Security, Reliability and Interoperability Council; and the Commercial Mobile Service Alert Advisory Committee. She also served on the Univ. of California/Berkeley School of Public Health’s national advisory board for its CDC-funded Preparedness & Emergency Response Research Center.

How do you cope with living with Usher syndrome? What strategies do you use to overcome challenges? In the first scientific study of its kind, these questions and more were explored in group interviews with 14 people with Usher syndrome type 2, who described their strategies to remain active agents in their own lives.

In this USH Talk, Moa Wahlqvist summarizes the findings from this qualitative study.

Speaker Bio: Moa Wahlqvist has a Ph.D. in disability science and works as a researcher with special interest in health and wellbeing for people with deafblindness, at the Audiological Research center, University hospital in Örebro and is affiliated to the Swedish Institute for Disability Research, Örebro University. She also holds a position as coordinator at the Swedish National Resource Center for Deafblindness and has a professional background within social work.

How do you cope with living with Usher syndrome? What strategies do you use to overcome challenges? In the first scientific study of its kind, these questions and more were explored in group interviews with 14 people with Usher syndrome type 2, who described their strategies to remain active agents in their own lives.

In this USH Talk, Moa Wahlqvist summarizes the findings from this qualitative study.

Speaker Bio: Moa Wahlqvist has a Ph.D. in disability science and works as a researcher with special interest in health and wellbeing for people with deafblindness, at the Audiological Research center, University hospital in Örebro and is affiliated to the Swedish Institute for Disability Research, Örebro University. She also holds a position as coordinator at the Swedish National Resource Center for Deafblindness and has a professional background within social work.

In this USH Talk, Hans Jørgen Wiberg, inventor and founder of Be My Eyes describes the app made up of a global community that connects people who are blind or have low vision with sighted volunteers from around the world through a live video call. Be My Eyes is accessible in more than 150 countries worldwide and in over 180 languages. The app is free and available for both iOS and Android.

In this USH Talk, Dr. Kumar Alagramam summarizes therapies to treat two common mutations in Usher syndrome III (USH3) and demonstrates proof-of-concept using animal models of USH3.

Speaker Bio: Dr. Kumar N. Alagramam earned his Masters in Biotechnology and PhD in Cell and Molecular Biology from the University of Tennessee at Knoxville. He received postdoctoral training in mammalian genetics at the Oak Ridge National Laboratory, Oak Ridge, Tennessee, and Case Western Reserve University. The long-term goal of his lab is to understand the genetic basis of hearing and deafness. He has focused on ear dysfunction associated with Usher syndrome for the past 15 years. The current focus of his lab is on Usher syndrome type III (USH3). He developed various animal models to understand the etiology and develop therapies for USH3.

In this USH talk, Hester van Diepen provides an overview of the Usher development program at ProQR Therapeutics as an approach for possible future treatment of USH2A-associated retinitis pigmentosa.

Speaker Bio: Dr. Hester van Diepen currently leads the Usher syndrome development program at ProQR Therapeutics. ProQR Therapeutics is a young biotech company based in Leiden in the Netherlands focusing on the development of RNA therapies for rare genetic diseases. Hester joined ProQR in 2015 after obtaining her PhD in Ophthalmology and Neurophysiology at the Leiden University Medical Center. Since joining ProQR she entirely focuses on the Usher development programs to develop an RNA therapy as a treatment for retinitis pigmentosa caused by mutations in the USH2A gene.

This presentation summarizes efforts to develop a dual AAV vector-based gene therapy for Myosin7a Usher syndrome (USH1B). The drawbacks of USH1B mouse models and a rationale for testing these vectors in a more clinically relevant species are discussed.

Speaker Bio:

Shannon E. Boye, Ph.D.

The focus of my research is developing viral vector-based gene replacement strategies for the treatment of inherited ocular disease. My current focus areas are 1) to develop dual AAV vector platforms that are capable of delivering large transgenes (> 5kb), 2) to develop AAV-based gene therapy approaches for delivery of genes to the outer retina (notably foveal cones) following intravitreal delivery, 3) to develop an Adeno associated virus (AAV)-based gene therapy for treatment of GUCY2D-Leber congenital amaurosis-1 (LCA1), and 4) to develop gene editing-based treatments (AAV-Crispr/Cas9) for inherited retinal disease. Since 2010, I have given over 45 invited lectures both within and outside the USA, including Distinguished Lecture seminars and symposia presentations at international conferences. I have secured twelve provisional patents on technology emanating from my research program and am actively funded by the NIH, private foundations and pharma. I perform grant review for various national and international foundations, serve on the editorial advisory board for multiple journals and act as an ad hoc peer reviewer for many more. I have published 49 manuscripts related to gene therapy, have participated in the NIH’s Office of Science Policy/Office of Biotechnology Activities “Gene Therapy: Charting a Future Course”, and am the recipient of multiple awards including the ARVO Foundation/Merck Innovative Ophthalmology Research Award in Gene Therapy and Eye Disease Prize, the Foundation Fighting Blindness’s Board of Director’s Award, the MOMS for Sight Visionary Award, and the University of Florida’s Exemplary Teacher Award. Outside of my research, I am actively involved in the teaching mission of my institute’s College of Medicine and am passionate about patient outreach/education outside the classroom. When I’m not in the lab, I enjoy spending time with my husband (who is also my partner in developing gene therapies!) and two young children.

This presentation summarizes efforts to develop a dual AAV vector-based gene therapy for Myosin7a Usher syndrome (USH1B). The drawbacks of USH1B mouse models and a rationale for testing these vectors in a more clinically relevant species are discussed.

Speaker Bio:

Shannon E. Boye, Ph.D.

The focus of my research is developing viral vector-based gene replacement strategies for the treatment of inherited ocular disease. My current focus areas are 1) to develop dual AAV vector platforms that are capable of delivering large transgenes (> 5kb), 2) to develop AAV-based gene therapy approaches for delivery of genes to the outer retina (notably foveal cones) following intravitreal delivery, 3) to develop an Adeno associated virus (AAV)-based gene therapy for treatment of GUCY2D-Leber congenital amaurosis-1 (LCA1), and 4) to develop gene editing-based treatments (AAV-Crispr/Cas9) for inherited retinal disease. Since 2010, I have given over 45 invited lectures both within and outside the USA, including Distinguished Lecture seminars and symposia presentations at international conferences. I have secured twelve provisional patents on technology emanating from my research program and am actively funded by the NIH, private foundations and pharma. I perform grant review for various national and international foundations, serve on the editorial advisory board for multiple journals and act as an ad hoc peer reviewer for many more. I have published 49 manuscripts related to gene therapy, have participated in the NIH’s Office of Science Policy/Office of Biotechnology Activities “Gene Therapy: Charting a Future Course”, and am the recipient of multiple awards including the ARVO Foundation/Merck Innovative Ophthalmology Research Award in Gene Therapy and Eye Disease Prize, the Foundation Fighting Blindness’s Board of Director’s Award, the MOMS for Sight Visionary Award, and the University of Florida’s Exemplary Teacher Award. Outside of my research, I am actively involved in the teaching mission of my institute’s College of Medicine and am passionate about patient outreach/education outside the classroom. When I’m not in the lab, I enjoy spending time with my husband (who is also my partner in developing gene therapies!) and two young children.

Estrategias para el estudio molecular del Síndrome de Usher

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El interés de Gema García-García por la investigación en genética humana surgió ya en sus estudios de Biología en la Universidad de Valencia. Obtuvo su título de Licenciada en Biología en 2008, recibiendo el premio extraordinario de su promoción. En 2009 obtuvo el Master en Biología Molecular, Celular y Genética, en la especialidad de Genética. Ese mismo año empezó sus estudios de doctorado supervisada por el Dr. José María Millán y la Dra. Elena Aller, sobre el análisis molecular del Síndrome de Usher tipo 2 y el desarrollo de nuevas tecnologías de secuenciación masiva. En 2013 obtuvo el título europeo de Doctora en Biotecnología. Inmediatamente después fue contratada como investigadora Postdoctoral en el Laboratorio de Genética Molecular del Hospital Universitario CHU de Montpellier, en el grupo de la Dra. Anne-Françoise Roux, para participar en el proyecto europeo “European young investigators network for Usher syndrome”. Durante su doctorado y posterior experiencia adquirió una gran formación en genética humana, especialmente en enfermedades neurosensoriales como el Síndrome de Usher, Retinosis Pigmentaria e hipoacusias. Desde el 2016 forma parte grupo de investigador del Dr. José María Millán y sus trabajos se centran en la mejora del estudio genético del síndrome de Usher, aplicando y desarrollando nuevas estrategias de análisis.

Dr. Gema García-García shares strategies for the molecular diagnosis of Usher syndrome used at the Health Research Institute Hospital La Fe in Valencia, Spain.

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Speaker Bio: Gema García-García has been interested in genetics and human diseases research since she started the Biology studies at Valencia University, in 2003. She got the B.Sc. Biology in 2008, receiving the Bachelor extraordinary Award of B.Sc. Biology. In 2009, she got the M.Sc. Research in Molecular, Cellular and Genetics Biology, with Specialty in Genetics. The same year, she started her PhD studies supervised by Dr. José María Millán and Dr. Elena Aller about the molecular analysis of the USH2 genes and development of a next-generation sequencing platform. She defended her thesis in July 2013, thus obtaining a European PhD in Biotechnology (Cum Laude). Then, she was recruited as Postdoctoral researcher in the Laboratory of Molecular Genetics, Montpellier University Hospital, supervised by Dr. Anne-Françoise Roux and participating to the project “European young investigators network for Usher syndrome”. Since her PhD and later in the first postdoctoral experience, she has gained a strong background in the field of human molecular and clinical genetics, with a main focus in sensorineural disorders, such as Usher syndrome, Retinitis Pigmentosa and Hearing loss. Currently she is member of José María Millán’s research team and her studies are focused on the improvement of molecular diagnosis of Usher syndrome and development of novel analysis strategies.