Page 83 - MemoriaER-Eng

www.ciberer.es

• G-M eM, b FJ, r M, n l, t M, l ue, s t, F-
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Man sl, botella lM, bernabéu c. Vascular injury triggers Kruppel-like factor 6 (KLF6)
scientific mobilization and cooperation with Sp1 to promote endothelial activation through

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upregulation of the Activin Receptor-Like Kinase 1 (ALK1) gene. Circ. Res. (2013)

112: 113-127.

• rossi e, sanz-rodríGuez F, eleno n, düWell a, blanco FJ, lanGa c, botella lM, cabañas c,
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leukocyte adhesion and transmigration. Blood. (2013) 121: 403-415.

• tabruyn sP, hansen s, oJeda-Fernández Ml, boVy n, zarrabeitia r, recio-PoVeda l, ber-
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This unit coordinates several studies at the basic, clinical and translational levels
Highlights
on Hereditary Hemorrhagic Telangiectasia (HHT). HHT is caused by mutations in

endoglin and ALK1 genes. These activities have been funded mainly by two cu-
rrent research projects of the Spanish National Plan (SAF2010-19222 y SAF2011-

23475), as well as by intramural funding from CIBERER. The research activity on
the molecular basis of HHT has allowed us to describe new mutations with large

deletions in the endoglin gene, as well as to demonstrate for the first time that

mutations in the BMP9 gene lead to an HHT-like syndrome. We have also repor-
ted a new function for endoglin in cell adhesion as an integrin ligand. Regarding

the clinic, as a reference group for HHT in Spain, we have carried out screening

protocols, molecular diagnosis, genetic counseling and pharmacological and in-
terventional therapies. We have coordinated a meeting in Zaragoza with a large

number of clinicians, which has allowed the creation of the first national network
for HHT. We have collaborated with different national and international patients

associations for rare diseases, including FEDER and we have contributed with an

active involvement in the organization of the 10th International Hereditary Hemo-
rrhagic Telangiectasia Scientific Conference (Cork, Irlanda). With respect to the

translational activity, and upon reaching the designation for Raloxifene as the first 13
20
orphan drug in HHT, we have carried out studies with Bazedoxifene in HHT post- T
menopausic women with the goal of getting a new designation as orphan drug for OR
P
HHT. Regarding the technology transfer item, we have applied for an international RE
PCT patent on an inhibitor of soluble endoglin and its potential use in pathologies L
A
such as preeclampsia, where soluble endoglin has a pathogenic effect.
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