Public Release: 

Research Symposium and Family Conference brings 4 rare childhood genetic disorders together

International Rett Syndrome Foundation

CINCINNATI, OHIO, February 24, 2016 -- A landmark national research symposium (June 21-24) and family conference (June 24-26) for Rett syndrome, CDKL5 disorder, FOXG1 disorder and MECP2 Duplication will be held at the Eaglewood Resort in a suburb of Chicago. This first ever effort by related disorders combines meetings to expand research horizons, find hope in unity, and maximize precious foundation resources.

Harnessing the power of collaboration within the rare disease community, inspired by NORD and upcoming worldwide Rare Disease Day February 29th, we commit to set the example of patient-ricity in research and demonstrate that "alone we are rare, together we are strong". We will present our children and the issues they suffer to the research community, and educate the families and allied health professionals supporting those affected by these disorders.

Just a short time ago, each of these Related disorders were characterized as "Atypical Rett syndrome". Today we know differently. They are disorders with their own etiology, but we will not drift into the obscurity of rare disorders or become myopic in research. We are united, we are strong and we are the voice of hope for our children who cannot speak.

These rare syndromes are childhood-onset, life-long and severely disabling. While frequent hospital visits, adapted equipment and environments, special diets, assistive communication, support services and advocacy are the norm, living rich and full lives filled with the hope and promise of research is the goal. We invite all to attend our partner Abilities Expo this same weekend.

The National Institutes of Health (NIH) and the National Center for Translational Research (NCATS) recognizes the importance and value of collaboration and partnership in research efforts, and has awarded this consortium one of only twenty-two U54 grants to study natural history to improve clinical research opportunities. The U54 grant does not sponsor this meeting.

This joint research symposium and family conference will bring together scientists, clinicians, educators, therapists and caregivers from all over the world for a fast-paced and in-depth discussion of the latest advances and current understanding of Rett syndrome, CDKL5 disorder, FOXG1 disorder and MECP2 Duplication. There will also be a Research-Ready Arena, hands-on workshops, and Tribute Awards dinner to set the path forward toward care and cure. Lifelong bonds are borne from this meeting of parents and researchers who are dedicated to the same goals of care and treatments.

To attend or Sponsor, please contact Conference Director Paige Nues

Who is is the leading comprehensive non-profit organization accelerating full spectrum research to cure Rett syndrome while empowering families with knowledge and connectivity that has achieved seven consecutive years of Charity Navigator ranking. To learn more visit or call 1.800.818.RETT (7388).

What is Rett Syndrome? Rett syndrome is a rare non-inherited genetic postnatal neurological disorder that occurs almost exclusively in girls and leads to severe impairments, including seizures, scoliosis, digestion, and affects nearly every aspect of the child's life: their ability to speak, walk, eat, and even breathe easily. The hallmark of Rett syndrome is near constant repetitive hand movements while awake. Cognitive assessment in children with Rett syndrome is complicated, but we know that they understand far more than they can communicate to us, evidenced by their bright and attentive eyes, and their ability to express a wide spectrum of moods and emotions.

Who is the International Foundation for CDKL5 Research (IFCR)? IFCR is a non-profit organization dedicated to funding leading research from around the globe, while empowering families and supporting them with education and resources, and raising awareness of CDKL5 throughout the world. To learn more and show your support visit or contact Katheryn Elibri Frame at 630-926-1189, or email

What is CDKL5? CDKL5 is a gene that every human has on their X Chromosome. The CDKL5 gene provides instructions for making a protein that is essential for normal brain development. People with a CDKL5 Disorder have a deletion, duplication or mutation on the gene causing abnormal protein production. CDKL5 disorder causes severe intractable epilepsy, digestive problems, severe neurological impairment, mobility challenges, autism spectrum disorders, abnormal sleep patterns, movement disorders, vision impairment and many other symptoms. CDKL5 affects mostly females, but many males are known to have this disorder.

Who is the International FoxG1 Foundation (IFF)? IFF is a non-profit organization providing hope and support to individuals with FoxG1 and their families. Our goal is to find treatments and a cure for FoxG1. We hope this Foundation will provide support and inspiration to the many families who have been blessed with a FoxG1 miracle. To learn more visit

What is FOXG1 Disorder? FoxG1 is a rare genetic mutation of the FoxG1 gene that impacts brain development and function. This severe neurological condition is characterized by seizures, inability to control body movements, and lack of speech. While the spectrum of abilities is quite broad depending on the exact genetic mutation, many of our children cannot walk or talk, and they struggle to communicate their most basic daily needs. It is possible for parents to be carriers, but most cases of FoxG1 are non-inherited and have no family history.

What is The 401 Project? The 401 Project raises funds to conduct critical research to cure MECP2 Duplication Syndrome. The 401 Project was established by parents of children affected by MECP2 Duplication Syndrome. Today, the 401 Project is maintained by a group of parent facilitators who guide fundraising programs, scientist interactions, research finding translations, and social media activities. There are very minimal direct costs associated with running the 401 Project, and these costs are covered by the parent facilitators. Every penny donated to the 401 Project goes to research. Visit to learn more and show your support for MECP2 Duplication Syndrome.

What is MECP2 Duplication Syndrome? The genetic abnormality that causes MECP2 duplication syndrome is a double dose or duplication of the MECP2 or Methyl CpG binding protein 2 gene. The protein made by the MECP2 gene, called MECP2, plays a pivotal role in regulating brain function. Too little or too much of the MECP2 protein results in brain dysfunction and physical impairment. Mutations in the MECP2 gene are also commonly associated with Rett syndrome in females. Research into MECP2 duplication syndrome is in its infancy, which means we also do not know the spectrum (mildness to severity). Preliminary studies suggest that prevalence may be 1.8 per 10,000 live male births. 50% of cases do not live beyond 25 years of age.


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