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Weekly Research Updates! – December 8, 2023

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Weekly Research Updates! - December 8, 2023

  • American Epilepsy Society Conference
    • Kit attended
    • I learned more about epilepsy and seizure research currently going on
    • I also met with researchers and rare disease advocates interested in our disorder
  • Research Roundtable 3
    • This event happened earlier today (December 8)
    • We had about 16 attendees
    • Here, we announced grant for translational science based on Patient Priority Survey
    • We also developed the beginnings of working groups
      • 1 group for patient-facing (like diagnostic and surveillance guidelines), 1 group for harder science
  • Overgrowth Syndrome Alliance (OSA) paper collaboration on seizures
    • We are working on submitting a paper for a Rare Epilepsy Special Collection on seizures and epilepsy in Overgrowth intellectual disability disorders
    • We are using anecdotal data and registry data
  • We’re creating more iPSCs (research tools)
    • IPSCs are a tool for research, like mice but they are human cells
    • We sent out a survey to the Research community on which lines would be most helpful

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Weekly Research Updates! – November 17, 2023

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Weekly Research Updates! - November 17, 2023

  • We are updating the TBRS Community website in major ways!
    • We are currently working on a new website that will have two sections – one for families and one for researchers!
    • There will also be a calendar of events, and more updated information on TBRS!
    • I am hoping to have this completed by the end of the year!
  • We are increasing accessibility for disabled individuals to fill out the Patient Priority Survey
    • It now has a new color scheme, is easier to read, and is available in spanish 
    • We are also planning to conduct one on one interviews with diagnosed individuals that are interested in filling out the Patient Priority Survey to help them!
  • NORD registry 2.0 is in development
    • As I mentioned before, we are including all germline DNMT3A variants 
    • We still have a long road ahead of us, adding in standardized surveys and changing this up, but still a work in progress
    • Again, I will make a post when it is complete!
  • Genomics video
    • Some of you participated in a genomics video for Dr. Kate Tatton Browns team to describe your experience with genetic testing and diagnosis of TBRS
    • This is almost completed and was super impactful! Such a beautiful video!
    • Kate Tatton-Brown still needs to give us feedback, but we will share this video when we are able to
  • Webinar with Virginie McNamar about Ciitizen
    • Monday Nov 27, 1-2pm EST
    • Join to learn more about this tool and what it can offer to TBRS Families.

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TBRS Community Executive Director, Jill Kiernan, Shares Family Experience on “ABCs of Disability Planning” Podcast

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We are excited to announce that Jill Kiernan, the Executive Director of the TBRS Community, was recently featured as a guest on the esteemed podcast, “ABCs of Disability Planning.” In this insightful episode, Jill delved into the patient and family experience of living with Tatton Brown Rahman Syndrome, shedding light on the challenges and triumphs associated with this rare disorder.

Jill Kiernan brought her wealth of knowledge and personal experiences to the conversation, offering invaluable insights into navigating life with TBRS. From discussing the unique medical needs and daily hurdles faced by individuals with TBRS to highlighting the importance of community support and advocacy, Jill provided a comprehensive overview that resonates deeply with patients and families alike.

The “ABCs of Disability Planning” podcast serves as a platform for meaningful discussions surrounding various disabilities and rare conditions, aiming to educate and empower individuals and families. Jill’s participation not only raises awareness about TBRS but also amplifies the voices of those affected by this condition, fostering understanding and solidarity within the community.

To listen to Jill Kiernan’s episode on the “ABCs of Disability Planning” podcast, visit their website  or search your podcast platform for the episode titled Meet.Support.Advance. Raising awareness of another Rare Disease – TBRS Community.

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