Page 122 - MemoriaER-Eng

RESEARCH GROUPS

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PROGRAMME:
Group U728
Sensorineural Pathology

Lead Researcher
éGroup Members

STAFF MEMBERS
Moreno Pelayo, Miguel Ángel
Garrido Martnez, Gema

Gmez Rosas, Elena
Contact:
Morn Rodrguez, Matas

Servicio de Gentica. Hospital Ramón y Cajal
Ctra. Colmenar, km 9. 28034 Madrid ASSOCIATED MEMBERS
Borreguero Escribano, Luca
Phone: (+34) 91 336 85 41
E.mail: [email protected]
Charaf Hasbani, Sara Romina
Del Castillo Fdez. del Pino, Fco. Javier

Del Castillo Fdez. del Pino, Ignacio

Domnguez Ruiz, Mara Main lines of research
Gandia Ferri, Marta

Hernndez Chico, Concepcin • Hereditary (syndromic and non-syndromic) hearing loss: identification of new
Hernndez Imaz, Elisabete genes, genetic epidemiology by means of OMIC approaches (NGS and aCGH),

Hernndez Lpez, Alba Marina functional studies and generation of murine models.
Martn Santo Domingo, Yolanda
• Hereditary basis for glaucoma and for the pathology of anterior segment of
Mayo Merino, Fernando
the eye.
Melen Gumiel, Germn
Moreno Herrero, Felipe • Hidradenitis suppurativa: identification of the genes responsible for it, genetic 13
epidemiology and functional studies.
20
Olavarrieta Scappini, Luz Leticia T
Rodrguez Alvarez, Fco. Javier R
• SAPHO syndrome (chronic recurrent multifocal osteomyelitis): identification of PO
Rodrguez Ballesteros, Montserrat the gene responsible for it.
E
Ruiz Palmero, Laura L R
• Neurofibromatosis type 1 and 2 and neuro-cardio-facial-cutaneous syndromes.
A
Santos Serrao de Castro, Luciana NU
N
Villamar Lpez, Manuela
• Spinal muscular atrophy.
A
/
• microRNA cure: Modulation of microRNAs to eliminate latency reservoirs in HIV ER
patients.
ER
B
• Genetic-molecular basis for Chiari syndrome.
CI

122
• Study of primary immunodeficiencies associated with the TCR/CD3 complex
and with DNA repair defects.