Genetic Diagnostics and Therapeutic Approaches for Hereditary Auditory Disorders

medizinischegenetik 2 - 2020
Wissenschaftliche Koordination: Thomas Haaf, Barbara Vona
Kurze Zusammenfassung
Hearing loss (HL) is the most common sensory disorder and, from a human genetic perspective, an extremely heterogeneous and challenging disease. Recent statistics from the World Health Organization estimate that HL affects approximately 466 million individuals globally, which corresponds to roughly 6 % of the world population [1]. Its etiology falls under three umbrellas; namely, acquired, idiopathic, or genetic, with most idiopathic cases suspected to have a genetic cause.
Schwerpunkt Bild
Bildcollage: GfH


Hereditary auditory disorders
Vona Barbara, Haaf Thomas Download PDF

Expert interpretation of genes and variants in hereditary hearing loss
DiStefano Martina, Hughes Madeline Y., Patel Mayher J., Wilcox Emma H., Oza Andrea M. Download PDF

Non-syndromic hearing loss: clinical and diagnostic challenges
Vona Barbara, Doll Julia, Hofrichter Michaela A.H., Haaf Thomas Download PDF

Usher syndrome: diagnostic approach, differential diagnoses and proposal of an updated function-based genetic classification
Bolz Hanno J. Download PDF

Clinical and molecular genetics of Meniere disease
Martinez-Gomez Estrella, Gallego-Martinez Alvaro, Roman-Naranjo Pablo, Lopez-Escamez Jose A. Download PDF

Gene therapy as a possible option to treat hereditary hearing loss
Morgan Michael, Schott Juliane W., Rossi Axel, Landgraf Christian, Warnecke Athanasia, Staecker Hinrich, Lesinski-Schiedat Anke, Schlegelberger Brigitte, Büning Hildegard, Auber Bernd, Schambach Axel Download PDF