Page 104 - MemoriaER-Eng

RESEARCH GROUPS

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PROGRAMME:
Group U718
Sensorineural Pathology
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Group Members
Lead Researcher

Gonzlez Duarte, Roser
èASSOCIATED MEMBERS
de Castro Mir, Marta

Marfany Nadal, Gemma
Contact:
Riera Gibernau, Marina

Universitat de Barcelona, Departament de Genètica Sava, Florentina
Departament de Gentica. Facultat de Biologia.

Edifici Prevosti, 2a planta. c/ Avda. Diagonal, 643. 08028 Barcelona
Phone: (+34) 93 402 10 34 · E.mail: [email protected]

Website: http://www.ub.edu/genetica

Main lines of research

• Study of the genetic and molecular basis for retinal dystrophies.

• Direct mutational analysis of the genes responsible for hereditary retinal
dystrophies.

• Construction and optimization of DNA chips for indirect diagnosis of the 13
genes causing hereditary retinal dystrophies in isolated families. Applica- 20
T
tion of the last version of the chip for the genetic diagnosis for 100 genes R
of retinal dystrophies.
PO
E
L R
• Search for new genes causing retinal dystrophies in affected families by A
means of exome/enrichment and massive DNA sequencing.
NU
N
• Functional analysis of CERKL by means of studies in cell lines and of the A
/
animal model created by the team, knockout CERKL-/- mice.
ER
ER
B
CI

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