Est. 2023. The Ebrahimi-Fakhari lab is committed to developing novel therapies for rare neurological diseases in children. 🧬🧠🔬 @harvardmed @BostonChildrens
Boston, MA
Joined June 2023
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Hereditary spastic paraplegia: Journey to a treatment - Boston Children's Answers answers.childrenshospital.or…
In honor of #raredisease day: A story on our work @BostonChildrens @FMKirbyNeuro with @AstellasUS and the close collaboration with patients and advocates including the amazing @CureAP4 . The journey to a treatment for hereditary spastic paraplegia
answers.childrenshospital.or…
1st meeting led by @LucaSchierbaum @BostonChildrens & @szuchner & @univmiami to align #movementdisorder #hereditaryspasticparaplegia sequencing initiatives. Progress in #raredisease = scaling up & collaborating 🌎!🙏🏽 @SpasticParapleg @SpasticWorld for bringing us together!
This week we @BostonChildrens @FMKirbyNeuro report in @NatureComms a cell-based phenotypic high-throughout assay for AP-4-related HSP. Screen of ~29K compounds with @Astellas identified BCH-HSP-C01 @CureAP4 @CureSPG50 @SpasticWorld nature.com/articles/s41467-0…
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 👉🏽 #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
Thank you @jmartinrufino for joining us this evening and sharing some of your musical talent with us! We are lucky to have such kind, gifted and well rounded physician-scientist colleagues @BostonChildrens
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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 & 🌍colleagues!🙏🏽 @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
Interested in translational research in #raredisease #movementdisorders #neurogenetics #genetherapy #cellbiology? Our lab @BostonChildrens @harvardmed @FMKirbyNeuro is recruiting - check out our website for more information. def-lab.org/
1st investigator meeting for the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN) - collaborating across 🇺🇸 Boston to Seattle to advance research on HSP in children & adults! @szuchner @DavisLabUW @DariusFakhari @DanielGCalame 🙏 @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! 🙏 to our speakers, patients, families, advocates, supporters & advisors! This 🌎 community is pushing #raredisease research 🔬 🧬 forward! The future is bright! @CureAP4 @CureSPG50
Our lab @FMKirbyNeuro @harvardmed is recruiting Post-Doctoral Fellows👇🏽. Work with us on novel therapies for rare neurological diseases at the intersection of #cellbiology, #neuroscience & #neurogenetics. @harvardbrainsci @SfNtweets @the_asci @ASCBiology @EMBO @FENSorg
Two papers from our group in this month’s issue of @MDJ_Journal @movedisorder describing neurofilament light chain levels in children with AP-4 associated #hereditaryspasticparaplegia and the impact of #DBS on status dystonicus in UBA5-related disorder. tinyurl.com/bp5x93s4
Very, very proud of Hellen Jumo - our group @DariusFakhari’s first research assistant @FMKirbyNeuro, who is now starting her MD/PhD @UCLA @dgsomucla ! Very excited to see you on this journey! The future of #medicine #neuroscience is bright! Upwards and onwards!
Very, very proud of Hellen Jumo - our group @DariusFakhari’s first research assistant @FMKirbyNeuro, who is now starting her MD/PhD @UCLAGeffenSOM! Very excited to see you on this journey! The future of #medicine #neuroscience is bright! Upwards and onwards!
Come & join our team @BostonChildrens @FMKirbyNeuro @harvardmed as a post-doctoral fellow #neuroscience #cellbio & develop novel therapies for #raredisease #movementdisorders #neurogenetics @ASGCTherapy @the_asci @SfNtweets @ASCBiology @ChildNeuroSoc @movedisorder @ncats_nih_gov
Grateful to @PujolLab @CIBERER @idibell_cat @SanofiUS for giving our group @BostonChildrens a special seminar on the role of lipids in #hsp #neurodegeneration #raredisease - and sharing experience with RINT1. Her fascinating work from academia -> industry continues to inspire!
Introduction of the Spastic Paraplegia - Centers of Excellence #hspandpls #hsp #rarediseases #movementdisorders #neurogenetics in 🇺🇸. Thank you @SpasticParapleg @SpasticWorld for trusting us @BostonChildrens @DEF_Lab_HMS to lead this important next step! youtu.be/IMd-H5EK8pw?si=eyEX…