Ueffing Lab

Molecular Biology of Retinal Degenerations

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Research Topics

AMD is the leading cause of blindness in the elderly population and efficient therapeutic options to treat the common form, dry AMD, are very limited. AMD is characterized by progressive degeneration of the central region of the retina, the macula. AMD patients lose their central visual field, making it impossible to read, write, drive and recognize faces, which greatly impedes an independent and active life. AMD is a very complex disease, caused by an interplay of diverse risk factors, including genetic predisposition, age and life-style.

Retinal degeneration (RD) is a highly heterogeneous group of diseases leading to blindness. Diverse genetic dispositions as well as the impact of age and individual lifestyle make even monogenetic forms of RD complex and current understanding of RD does not go far enough to offer effective ways for therapy. Our work seeks towards understanding of the root mechanisms of degeneration as well as searching for disease modifiers and mechanisms of protection to develop radically new therapies for retinal degeneration.

Malfunction of cilia can cause ciliopathies, a wide spectrum of syndromic and non-syndromic disorders that affect multi-organ development and organ function. Cilia play essential roles in cellular functions, and the dysfunction of cilia is associated with a wide range of human diseases including skeletal abnormalities, retinal degeneration, renal malformations and developmental brain disorders. Virtually all ciliopathies come along with severe impairment of vision, caused by degeneration of photoreceptors.

Advanced diagnostics is key to informed medical decision making. To analyze the root cause of diseases, a variety of techniques such as -omics, bioinformatics, imaging, and data science are applied. On this basis, we develop new tools and strategies enabling the investigation and diagnosis of retinal diseases, for both experimental research and for the analysis of tissue samples from patients and patient cohorts.