My name is Sarah Forman, and I am a 17-year-old high school student with a goal to become a geneticist. I will be attending The Hun School of Princeton, near Rutgers University where Dr. Mulle is leading research about 3q29 deletion syndrome and 3q29 duplication syndrome. My mom is an attorney and has helped me to launch the 3q29 Foundation, which will be a not-for-profit foundation dedicated to supporting adults and children with 3q29 deletion syndrome and 3q29 duplication syndrome. These syndromes are caused by genetic mutations that result in not enough DNA (3q29 deletion syndrome) or too much DNA (3q29 duplication syndrome) at a specific region on human chromosome 3. Sometimes, changes in the amount of DNA can be harmless. In the case of 3q29 deletion syndrome and 3q29 duplication syndrome, these changes contribute to developmental delays and other genetic issues.

For 3q29 Deletion Syndrome, the chromosomal segment most commonly deleted contains 21 genes. People with the syndrome have only one copy of these genes, and this creates problems for the brain and the body. There are over 300 known cases, according to The 3q29 Project at Rutgers University. 3q29 Deletion Syndrome is very rare (1 in 30,000 people are estimated to have it, or about 10,000 people in the United States alone).

3q29 duplication syndrome is caused by the exact same segment of DNA, but people with this syndrome have three copies of these 21 genes. 3q29 duplication syndrome is less well understood. The 3q29 Project has identified 50 people with this syndrome.

Dr. Jennifer Mulle is an Associate Professor in the Department of Psychiatry at the Robert Wood Johnson School of Medicine at Rutgers University. She earned her PhD in Human Genetics from the Johns Hopkins School of Medicine and also has an MHS in Genetics Epidemiology from the Johns Hopkins School of Public Health. As a Post-doctoral Fellow at Emory University, she began studying the 3q29 deletion and the 3q29 duplication. She is committed to research to understand everything about the deletion and duplication: why they form, what they do to the body and the brain, and most importantly, what are the most effective ways to treat individuals with these syndromes so they have the best possible outcomes.

Dr. Mulle is committed to continuing her research and also seeks to offer other supports for the 3q29 community. As an attorney, my mom has offered to set up the Foundation to support Dr. Mulle’s work and all of the people with 3q29 deletion and duplication syndromes.

A foundation would serve several important goals:

• Launching a Clinic - Dr. Mulle is working very hard to develop a 3q29 specialty clinic at Rutgers. One of the barriers is, clinics like this often lose money, making institutions wary of a commitment. Philanthropy funds from a foundation could provide support for the clinic, and also help with travel expenses for families who otherwise couldn’t afford to attend.

• Supporting Research – Through the Foundation, we can raise money to expedite the research by supplementing funds obtained through grants.

• Legitimizing the Diagnosis – Having a Foundation would continue to legitimize the diagnosis of 3q29 deletion and 3q29 duplication syndrome. Having a formal foundation, with a professional-looking website, would assist families seeking educational support in schools or adults and children seeking insurance coverage by showing teachers, doctors, family and friends that this diagnosis is real.

• Fundraising - Through the Foundation, we can also raise funds for things that grants don’t cover: families meetings, webinars with professional speakers, and other community development activities

What will the funds be used for?

Funds raised through this GoFundMe will be used for start-up costs such as legal, filing fees, website development and other start-up costs. Any excess funds, if any, will be used as the initial capitalization of the 3q29 Foundation. Thank you in advance for your support!