Wednesday, 1st March, 2017, 12:00 - 13.00

Peeking at incomplete penetrance with linkage analysis

Large-scale genetic profiling and clinical sequencing are revealing an increasing number of carriers of disease-causing mutations who do not develop the disease phenotype. This characteristic is clinically reported as a genetic disorder of reduced or incomplete penetrance. Several mechanisms have been proposed to explain incomplete penetrance, such as the molecular context of mutations, patient characteristics, such as age or sex, as well as specific environmental conditions that delay or trigger the disease onset. The phenomenon of incomplete penetrance constitutes a major challenge in the field of genetic diagnosis and counseling because phenotypes no longer unambiguously exhibit underlying genotypes. Nevertheless, its existence also provides new opportunities to learn how genotypes shape phenotypes. In this talk I will discuss our efforts using linkage analysis, to find a genetic modifier that explains the incomplete penetrance of a specific genetic disorder.

Speaker: Pau Puigdevall, Functional Genomics, GRIB (UPF)

Room Aula 473.10 (PRBB, 4th floor)