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Unraveling the Genetics of a Rare Disease

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Manage episode 367129267 series 3326802
Content provided by Krembil Brain Institute. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Krembil Brain Institute or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://player.fm/legal.

When Brynn Ladley was born, she was a smiling, happy and healthy baby, hitting all of her developmental milestones. Then, at six weeks old, she began having seizures and eventually was diagnosed with CDKL5, a rare and debilitating genetic disorder that has no cure.
Upon Brynn’s diagnosis, her mother Natalie became an advocate and connected with Dr. James Eubanks, a Senior Scientist at the Krembil Brain Institute, who has made it his life’s mission to pioneer advanced research looking at how brain function is altered in specific rare, neurodevelopmental conditions, such as CDKL5 and Rett Syndrome
He is also developing new therapeutic strategies to better treat, or one day even cure, these diseases.
We’ll also hear from Brynn’s mother Natalie and from Richard Logan, Dr. Eubanks’ long-time lab manager, who are optimistic about advances in this research, in the years to come.
Featuring:
Dr. James Eubanks – Senior Scientist and Research Division Head at the Krembil Brain Institute, part of UHN.
Natalie Ladly – President of CDKL5 Canada and mother to seven year-old Brynn Ladly, who is living with CDKL5.
Richard Logan - Lab manager and senior technologist for Dr. Eubanks’ lab at the Krembil Brain Institute.
Additional resources:
CDKL5 Canada
Ontario Rett Syndrome Association
Krembil Brain Institute magazine article featuring Dr. Eubanks
UHN Foundation’s ‘Know Your Heroes’ article featuring Dr. Eubanks
Collingwood Today article about Bryn Ladley & her family
Canadian Organization for Rare Disorders

The Your Complex Brain production team is Heather Sherman, Jessica Schmidt, Dr. Amy Ma, Kim Perry, Sara Yuan, Meagan Anderi, Liz Chapman, and Lorna Gilfedder.
The Krembil Brain Institute, part of University Health Network, in Toronto, is home to one of the world's largest and most comprehensive teams of physicians and scientists uniquely working hand-in-hand to prevent and confront problems of the brain and spine, such as Parkinson's, Alzheimer's, epilepsy, stroke, spinal cord injury, chronic pain, brain cancer or concussion, in their lifetime. Through state-of-the-art patient care and advanced research, we are working relentlessly toward finding new treatments and cures.
Do you want to know more about the Krembil Brain Institute at UHN? Visit us at: uhn.ca/krembil
To get in touch, email us at krembil@uhn.ca or message us on social media:
Instagram - @krembilresearch
Twitter - @KBI_UHN
Facebook - https://www.facebook.com/KrembilBrainInstitute
Thanks for listening!

  continue reading

42 episodes

Artwork
iconShare
 
Manage episode 367129267 series 3326802
Content provided by Krembil Brain Institute. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Krembil Brain Institute or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://player.fm/legal.

When Brynn Ladley was born, she was a smiling, happy and healthy baby, hitting all of her developmental milestones. Then, at six weeks old, she began having seizures and eventually was diagnosed with CDKL5, a rare and debilitating genetic disorder that has no cure.
Upon Brynn’s diagnosis, her mother Natalie became an advocate and connected with Dr. James Eubanks, a Senior Scientist at the Krembil Brain Institute, who has made it his life’s mission to pioneer advanced research looking at how brain function is altered in specific rare, neurodevelopmental conditions, such as CDKL5 and Rett Syndrome
He is also developing new therapeutic strategies to better treat, or one day even cure, these diseases.
We’ll also hear from Brynn’s mother Natalie and from Richard Logan, Dr. Eubanks’ long-time lab manager, who are optimistic about advances in this research, in the years to come.
Featuring:
Dr. James Eubanks – Senior Scientist and Research Division Head at the Krembil Brain Institute, part of UHN.
Natalie Ladly – President of CDKL5 Canada and mother to seven year-old Brynn Ladly, who is living with CDKL5.
Richard Logan - Lab manager and senior technologist for Dr. Eubanks’ lab at the Krembil Brain Institute.
Additional resources:
CDKL5 Canada
Ontario Rett Syndrome Association
Krembil Brain Institute magazine article featuring Dr. Eubanks
UHN Foundation’s ‘Know Your Heroes’ article featuring Dr. Eubanks
Collingwood Today article about Bryn Ladley & her family
Canadian Organization for Rare Disorders

The Your Complex Brain production team is Heather Sherman, Jessica Schmidt, Dr. Amy Ma, Kim Perry, Sara Yuan, Meagan Anderi, Liz Chapman, and Lorna Gilfedder.
The Krembil Brain Institute, part of University Health Network, in Toronto, is home to one of the world's largest and most comprehensive teams of physicians and scientists uniquely working hand-in-hand to prevent and confront problems of the brain and spine, such as Parkinson's, Alzheimer's, epilepsy, stroke, spinal cord injury, chronic pain, brain cancer or concussion, in their lifetime. Through state-of-the-art patient care and advanced research, we are working relentlessly toward finding new treatments and cures.
Do you want to know more about the Krembil Brain Institute at UHN? Visit us at: uhn.ca/krembil
To get in touch, email us at krembil@uhn.ca or message us on social media:
Instagram - @krembilresearch
Twitter - @KBI_UHN
Facebook - https://www.facebook.com/KrembilBrainInstitute
Thanks for listening!

  continue reading

42 episodes

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