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Unraveling the Genetics of a Rare Disease

Unraveling the Genetics of a Rare Disease

FromYour Complex Brain


Unraveling the Genetics of a Rare Disease

FromYour Complex Brain

ratings:
Length:
45 minutes
Released:
Jun 27, 2023
Format:
Podcast episode

Description

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 SyndromeHe 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 CanadaOntario Rett Syndrome AssociationKrembil Brain Institute magazine article featuring Dr. EubanksUHN Foundation’s ‘Know Your Heroes’ article featuring Dr. EubanksCollingwood Today article about Bryn Ladley & her familyCanadian Organization for Rare Disorders 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/krembilTo get in touch, email us at krembil@uhnresearch.ca or message us on social media:Instagram - @krembilresearchTwitter - @KBI_UHNFacebook - https://www.facebook.com/KrembilBrainInstituteThanks for listening!
Released:
Jun 27, 2023
Format:
Podcast episode

Titles in the series (38)

Explore the myths, mysteries, and medical breakthroughs of the most complex and powerful organ in your body – your brain. Weaving together expert interviews with heartfelt, inspiring snapshots of the patients and family members in the middle of it all, Heather Sherman dives into the latest science on Alzheimer’s, Parkinson’s, epilepsy, stroke, concussion, spinal cord injury, brain cancer, chronic pain and other brain diseases and disorders. Along the way she uncovers surprising insights, sheds light on the latest research, and shares heroic, real life stories from the people on the front lines. Brought to you by Krembil Brain Institute at UHN, one of the largest and most comprehensive neurological centres in North America. Learn more about our mission at: http://www.uhn.ca/krembil