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Our North American Kleefstra Syndrome Family + Scientific Conference is this month!

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Our North American Kleefstra Syndrome Family + Scientific Conference is this month!

Building our Community through the North American Kleefstra syndrome Family + Scientific Conference!

IDefine is a nonprofit organization dedicated to discovering life-changing treatments and cures for those diagnosed with Kleefstra syndrome. Our organizational pillars are built upon supporting the caregiver community, developing and strengthening coordinated clinical care, and propelling research towards a treatment for our loved ones diagnosed with Kleefstra syndrome. Our 3 primary funding objectives of 2024 are:

  1. The 2024 North American Kleefstra Syndrome Family Conference outside of Boston, MA
  2. Funding the Kleefstra Clinic team and efforts at Boston Children's Hospital
  3. Developing Pre-Clinical Research Tools for researchers working on Kleefstra syndrome

What is Kleefstra Syndrome?

Kleefstra syndrome (KS) is a rare genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. The syndrome, eponymously named for Dr. Tjitske Kleefstra, is caused by either a mutation or deletion of a gene called EHMT1 (Euchromatic Histone Methyltransferase 1). Kleefstra syndrome presents with a wide range of symptoms, and the severity of those symptoms vary from mild to severe.

IDefine, Inc. is a GA nonprofit corporation operating through a fiscal sponsorship with Players Philanthropy Fund, a Maryland charitable trust recognized by IRS as a tax-exempt public charity under Section 501(c)(3) of the Internal Revenue Code (Federal Tax ID: 27-6601178, ppf.org/pp). Contributions to IDefine are tax-deductible to the fullest extent of the law.