In this episode of “Moving Medicine Forward,” Audrey Davidow shares how her son’s diagnosis led to her co-founding the Pitt Hopkins Research Foundation. She explains the rare genetic disorder, the foundation’s focus on research and family support, and major breakthroughs such as a gene therapy trial. Audrey also reflects on advocacy, leadership challenges, and the hope driving their mission forward. 

Support the Pitt Hopkins Research Foundation by visiting PittHopkins.org or donating to the CTI Employee Fund.

01:09 Audrey Davidow shares how her son’s diagnosis led her to co-found the Pitt Hopkins Research Foundation. 

02:45 She explains Pitt Hopkins Syndrome as a rare genetic disorder caused by TCF4 gene mutations. 

04:35 Audrey recalls the early days of the foundation, driven by grief and an urgent need to act. 

06:01 The foundation remains focused on research while still offering family support. 

07:54 She highlights major breakthroughs, including a gene therapy trial. 

09:41 Funding is directed only to research with a clear path to patient impact. 

11:00 Support includes clinics, online communities, and global family conferences. 

12:22 Advocacy efforts aim to boost diagnosis rates and raise awareness among medical professionals.  

13:12 Challenges include translating science into treatments and navigating leadership without a science background. 

14:18 Audrey stays motivated by her son’s resilience and the progress made. 

15:31 How grassroots fundraisers have been highly successful. 

16:54 Top priorities include launching the gene therapy trial and advancing other genetic treatments. 

17:16 She encourages donations and everyday acts of inclusion for those with disabilities. 

18:50 Audrey offers a message of hope, emphasizing that meaningful progress is underway.