Hola,
¿eres nuevo aquí?

Registrate y conecta tu empresa con financiación pública, partners y proyectos.

LSDiASD

Financiado

Leveraging Small Demethylase inhibitors for Autism Spectrum Disorder

Duplication of chromosome region 7q11.23 (7Dup), comprising 26-28 genes, is one of best characterized copy number variations (CNV) causing Autism Spectrum Disorder (ASD), a very prevalent neurodevelopmental condition affecting mor... ver más

31/08/2018

UMIL

145K€

Presupuesto del proyecto: 145K€

Líder del proyecto

UNIVERSITA DEGLI STUDI DI MILANO No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5

Ver 3 Participantes

Financiación concedida El organismo H2020 notifico la concesión del proyecto el día 2018-08-31

Línea de financiación objetivo El proyecto se financió a través de la siguiente ayuda:

ERC-PoC-2015: ERC Proof of Concept Grant

I+D

Cerrada hace 9 años

0% 100% 100%

3 Participantes

UMIL

107.75K€ | Lider

Geovirtual

383.49K€ | Participante

TTF

37.50K€ | Participante

Proyectos interesantes

PID2021-128215OB-I00 ESTUDIO INTEGRATIVO DE ALTERACIONES DEL NEURODESARROLLO TEMP... 230K€ Cerrado

RTI2018-101960-A-I00 MODELADO DE SINDROMES DE ANEUSOMIA EN 7Q11.23 CON NEURONAS D... 121K€ Cerrado

CNS2023-144018 Enfermedades del sistema nervioso 194K€ Cerrado

PCI2022-132938 DECONSTRUCTING GENE REGULATORY NETWORKS FOR IMPROVING SIGHT... 288K€ Cerrado

SAF2015-68341-R GENETICA Y EPIGENETICA DE TRASTORNOS PSIQUIATRICOS: TRASTORN... 218K€ Cerrado

PCI2019-103712 ALTERACION DE LA COMUNICACION ESPACIO-TEMPORAL ENTRE NEURONA... 190K€ Cerrado

Últimas noticias

30-11-2024: Cataluña Gestión For... Se ha cerrado la línea de ayuda pública: Gestión Forestal Sostenible para Inversiones Forestales Productivas para el organismo:

29-11-2024: IDAE En las últimas 48 horas el Organismo IDAE ha otorgado 4 concesiones

29-11-2024: ECE En las últimas 48 horas el Organismo ECE ha otorgado 2 concesiones

Duración del proyecto: 25 meses Fecha Inicio: 2016-07-28
Fecha Fin: 2018-08-31

Líder del proyecto

UNIVERSITA DEGLI STUDI DI MILANO

TRL 4-5

Presupuesto del proyecto 145K€

Descripción del proyecto Duplication of chromosome region 7q11.23 (7Dup), comprising 26-28 genes, is one of best characterized copy number variations (CNV) causing Autism Spectrum Disorder (ASD), a very prevalent neurodevelopmental condition affecting more than 1% individuals worldwide, and for which no effective treatment is available. Despite the remarkable consistency of core ASD symptoms (impairment in language and sociability along with stereotyped behaviours), over 400 causative genetic lesions have been thus far identified for ASD, splitting it de facto into an aggregate of rare and highly penetrant genetic diseases. In turn, the convergence of symptoms grounds the hope that few paradigmatic syndromes may yield generalizable therapeutic inroads across the autistic spectrum. 7Dup is a case in point since it is symmetrically opposite to Williams Syndrome, a condition caused by 7q11.23 hemideletion and featuring symmetrically opposite phenotypes in language and sociability, thus offering unique opportunities to dissect the dosage-vulnerable circuits that affect language competence and sociability. Specifically, convergent evidence points to transcription factor GTF2I as the key gene underlying the cognitive/behavioural traits of 7Dup. Within my ERC-Consolidator project DISEASEAVATARS we discovered that increased GTF2I dosage represses key genes involved in intellectual disability, autism and neuronal function by associating with lysine demethylase 1 (LSD1), a key chromatin modifier, and found that LSD1 inhibition rescues GTF2I-dependent alterations. Therefore, we now wish to establish in vivo proof of concept for the efficacy of novel LSD1 inhibitors in rescuing cognitive-behavioural deficits in relevant ASD mouse models recapitulating GTF2I CNV, developing an adequate business plan and industrial partnerships as prerequisites for advancing the most effective LSD1 inhibitor towards pre-clinical development for 7Dup and ASD more broadly.

Conecta tu I+D

Entra hoy

Financiación

Empresas

CTIs/Universidades

Proyectos

Investigadores