Catherine Jordan

🇩🇪 🇨🇦 Passionate about Research and Medicine 🔬 Doctor of Medical Sciences Candidate

[Catherine Jordan @cathmjordan]

Today is #RareDiseasesDay, a global movement to advocate for healthcare access and equal opportunity for the 300 million people living with a rare disease. 72% of #RareDiseases are #genetic. Our team @BostonChildrens @harvardmed studies a rare #neurological disease called #HSP

[Catherine Jordan @cathmjordan]

Further Together https://t.co/cf9EvYVnyo

[Catherine Jordan @cathmjordan]

Great funding opportunity for #RareDisease #patientadvocacy groups with @GlobalGenes : https://t.co/LDmOT9J0Sv

[Ebrahimi-Fakhari_Lab @DEF_Lab_HMS]

Interested in translational research in #raredisease #movementdisorders #neurogenetics #genetherapy #cellbiology? Our lab @BostonChildrens @harvardmed @FMKirbyNeuro is recruiting - check out our website for more information. https://t.co/AKM9l1ORmc

[Ebrahimi-Fakhari_Lab @DEF_Lab_HMS]

Excited to share our work in @MDJ_Journal @movedisorder evaluating NfL levels using @QuanterixSimoa as a marker for AP-4-related hereditary spastic paraplegia. This is part of our program to establish #clinicaltrialreadiness for @CureAP4 @CureSPG50 https://t.co/eSCVZninD9

[Darius Ebrahimi-Fakhari @DariusFakhari]

Two families, united by a rare disease, push for awareness and a cure https://t.co/67NJAXij19. De Novo SPG4 has been reported in <100 children worldwide but may be under-diagnosed. See our report https://t.co/kT7xiPjn0I. @harvardmed @BostonChildrens @MDJ_Journal @movedisorder

[Catherine Jordan @cathmjordan]

Hard to say goodbye to such an incredible group of people. I am beyond thankful to have had the opportunity to work with this team as well as the patients & families. Thank you also to @DariusFakhari for your mentorship and continuous support. Hope to see you all again very soon

[Catherine Jordan @cathmjordan]

..laboratory and imaging findings as potential disease #biomarker. This will inform the choice of outcome parameters for future natural history studies and therapeutic trials.

[Catherine Jordan @cathmjordan]

Dr. Afshin Saffari presenting our work on another #RareDisease In a large cross-sectional study of 44 individuals with SPG15-associated #HereditarySpasticParaplegia we shed light into the complex clinical and genetic spectrum of this disorder and highlight the value of clinical..

[Catherine Jordan @cathmjordan]

Many of which had previously been diagnosed with cerebral palsy. We find that individuals show a different set of symptoms along with a generally earlier disease onset compared to those with inherited variants. @BostonChildrens

[Catherine Jordan @cathmjordan]

Sharing some of our work for #RareDiseaseDay2023 Based on the notion that de novo occurrence of SPG4-assoiated #HereditarySpasticParaplegia might be associated to a more complex disease course, we investigated 40 patients with de novo #SPG4

[Human Molecular Genetics @hmg_journal]

Recent work on #raredisease #neurogenetics from @BostonChildrens, @FMKirbyNeuro @iddrc_bch & @MGHNeurology, led by @JEAlecu, @cathmjordan et al: De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype–phenotype correlations
https://t.co/CvbuHQluUd

[Epilepsy Genetics Program @BCH_PoduriLab]

We are hiring 3 new Clinical Research Assistants! If you know of any recent or future graduates who are interested in the genetics of epilepsy and want to pursue a career in epilepsy genetics or a related field, please have them apply here!

[Neurology Journal @GreenJournal]

Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy: https://t.co/7RABpkPuao #NeuroTwitter #Neurology #Genetics

[Darius Ebrahimi-Fakhari @DariusFakhari]

Finally absolutely delighted to see current, future & past trainees @BostonChildrens present on SPG3A, SPG4, SPG15, SPG49 & the AP-4 HSPs 👇Could not be more proud of this young group moving the needle for #raredisease research @JEAlecu @helenarose @cathmjordan @B_Brechmann

[Darius Ebrahimi-Fakhari @DariusFakhari]

#MoveDisorder World Movement Disorders Day is coming up! Our new clinical fellowship in Pediatric Movement Disorders & Neurogenetics @BostonChildrens @harvardmed is open for applications. Pls see 👇🏽: @ChildNeuroSoc @movedisorder @Child_Neurology @EPNSnews @icnapedia @flicna

[Catherine Jordan @cathmjordan]

Last Night’s Game @celtics 🍀

[Catherine Jordan @cathmjordan]

Little photo dump of Boston in the Fall 🍂

[Brain @Brain1878]

Saffari et al. present a systematic cross-sectional analysis of clinical, radiographic, and molecular features of 44 patients with SPG15. The analysis delineates early disease manifestations and identifies markers of disease severity. https://t.co/bulLPz50tq

[Boston Children’s Child Neurology & NDD Residency @BCHNeuroRes]

Enjoyed a fantastic Grand Rounds by @BCHNeuroRes Class of 2020 graduate @DariusFakhari on "Childhood-onset Hereditary Spastic Paraplegia: Lessons learned from translational research in ultra-rare diseases" with work from @cathmjordan @JEAlecu and Afshin Saffari #RareDiseases