7 episodes

PMS, it's not what you think. Our PMS is Phelan-McDermid Syndrome (PMS), a rare genetic condition most commonly caused by a deletion (loss) of genetic material on chromosome 22. The specific region of chromosome 22 that is affected is called “22q13”, leading some to call it “22q13 deletion syndrome”. PMS may also be caused by a sequence (spelling) change (also called a disease-causing, or “pathogenic”, variant) in the SHANK3 gene. Because the genetic changes vary, the symptoms of PMS vary too, and can cause a wide range of medical, intellectual, and behavioral challenges. Follow along on our podcast journey as the Phelan McDermid Syndrome Foundation's Family Engagement Specialist, Jackie Jacobs, talks to guests about everything from fundraising to national research efforts to how to identify and monitor seizures. Episodes released on Mondays every three weeks.

PMS Pathways Podcast Jackie Jacobs

    • Health & Fitness

PMS, it's not what you think. Our PMS is Phelan-McDermid Syndrome (PMS), a rare genetic condition most commonly caused by a deletion (loss) of genetic material on chromosome 22. The specific region of chromosome 22 that is affected is called “22q13”, leading some to call it “22q13 deletion syndrome”. PMS may also be caused by a sequence (spelling) change (also called a disease-causing, or “pathogenic”, variant) in the SHANK3 gene. Because the genetic changes vary, the symptoms of PMS vary too, and can cause a wide range of medical, intellectual, and behavioral challenges. Follow along on our podcast journey as the Phelan McDermid Syndrome Foundation's Family Engagement Specialist, Jackie Jacobs, talks to guests about everything from fundraising to national research efforts to how to identify and monitor seizures. Episodes released on Mondays every three weeks.

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