Est. 2023. The Ebrahimi-Fakhari lab is committed to developing novel therapies for rare neurological diseases in children. 馃К馃馃敩 @harvardmed @BostonChildrens
Boston, MA
Joined June 2023
- Tweets182
- Following438
- Followers285
- Likes296
1st meeting led by @LucaSchierbaum @BostonChildrens & @szuchner & @univmiami to align #movementdisorder #hereditaryspasticparaplegia sequencing initiatives. Progress in #raredisease = scaling up & collaborating 馃寧!馃檹馃徑 @SpasticParapleg @SpasticWorld for bringing us together!
This week we @BostonChildrens @FMKirbyNeuro report in @NatureComms a cell-based phenotypic high-throughput assay for AP-4-related #hereditaryspasticparaplegia. Screen of ~29K compounds with @Astellas identified BCH-HSP-C01 馃憠馃徑 #raredisease @CureAP4 @CureSPG50 @SpasticParapleg
Happy holidays from all of us @DEF_Lab_HMS @BostonChildrens @FMKirbyNeuro - really blessed to work with this amazing, dedicated and talented group of people & friends of the lab. A lot achieved in 2023 and excited for 2024! #neurogenetics #raredisease #movementdisorders
Dr. Robert Behne - visiting student with us @BostonChildrens @FMKirbyNeuro 2019-2020 defended his thesis @Uni_WUE! Robert was the first to investigate ATG9A in iPSC-derived neurons from children with AP-4 deficiency. He is now a #childneurology resident @uniklinik_hd
Well done @VicenteQuirozSM presenting on #DBS on genetic childhood-onset #dystonia at Kuna Abroms Forum - wonderful symposium for #childneurologists in New England & 馃實colleagues!馃檹馃徑 @AlcyTorresMD @The_BMC for organizing & inviting our Movement Disorders Program @BostonChildrens
@ScheffoldM representing our lab @DEF_Lab_HMS at the @FMKirbyNeuro Retreat - showing small molecule screening platforms for #HSP in a joint research project between our group @BostonChildrens and @AstellasUS . Preprint is online! Well done Marlene! def-lab.org
1st investigator meeting for the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN) - collaborating across 馃嚭馃嚫 Boston to Seattle to advance research on HSP in children & adults! @szuchner @DavisLabUW @DariusFakhari @DanielGCalame 馃檹 @SpasticParapleg @SpasticWorld
Fantastic seminar @BostonChildrens @SickKidsNews @ChildrensNatl today by Dr. Dan Lumsden @EvelinaLondon on status dystonicus #movementdisorder emergencies! Exciting areas in #DBS & #genomics. A lot of work ahead of us! @LindseyMVogt @KathrynYangMD @VicenteQuirozSM @CarolinaGorod
What an amazing AP-4 hereditary spastic paraplegia conference @BostonChildrens @FMKirbyNeuro! 馃檹 to our speakers, patients, families, advocates, supporters & advisors! This 馃寧 community is pushing #raredisease research 馃敩 馃К forward! The future is bright! @CureAP4 @CureSPG50
