Building Our Community - Support Today!
Mark your Calendars! September 17th is Kleefstra Syndrome Awareness Day!
Mark your Calendars! September 17th is Kleefstra Syndrome Awareness Day!
Celebrate Kleefstra Syndrome Awareness Day September 17th!
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:
- The 2024 North American Kleefstra Syndrome Family + Scientific Conference (UPDATE: DONE!)
- Funding the Kleefstra Clinic team and efforts at Boston Children's Hospital (2024 ACCOMPLISHED!)
- 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 Texas 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.