October 3, 2026 · Philadelphia

2026 Conference: watch the talks

Families from 14 countries joined us in Philadelphia and online for the first Reed's Reach for 15q13.3 Family Conference. The talks below are open to everyone, with captions reviewed for accuracy in English, Brazilian Portuguese, Spanish, Italian, Dutch, Hebrew, Ukrainian, French and German: choose a language with the CC and settings buttons on the player.

Talks with research that is not yet published, the question-and-answer sessions and the afternoon panel are shared with families registered with OpenReach, our family registry. They are marked "Families only" below.

1. Opening keynote: Say it, show it, lead the way
2. Clinical and molecular characterization of 15q13.3 microdeletion syndrome
3. Simons Searchlight: 15q13.3 registry update
4. Q&A with Dr. Cora Taylor: Simons Searchlight questions Families only
5. From genes to brain development: stem cell models of 15q13.3 Families only
6. Q&A with Dr. Karun Singh: stem cell models of 15q13.3 Families only
7. The neurology of 15q13.3: two decades of discovery
8. Q&A with Dr. Ingo Helbig: seizures and EEGs in 15q13.3 Families only
9. Identifying under-recognized features of 15q13.3 deletions Families only
10. Panel: questions from families about 15q13.3 Families only
11. Closing remarks: what comes next

Opening keynote: Say it, show it, lead the way

Ian Smith, President, Reed's Reach for 15q13.3

Ian Smith opens the conference with a plan for moving 15q13.3 toward clinical trials: say what we want, show that a treatment is possible, and lead the way. He shares what families asked for in the pre-conference survey, explains why natural history data matters, and shows how school evaluations and medical records can help. He asks families to enroll in Simons Searchlight and give a research blood sample, and introduces OpenReach, software for finding answers in published research and keeping a family record that the family controls.

Clinical and molecular characterization of 15q13.3 microdeletion syndrome

Dr. Christian Schaaf, clinical geneticist, Institute of Human Genetics, University of Heidelberg

Dr. Christian Schaaf explains what the 15q13.3 microdeletion is, using a library of bookshelves to show how a piece of chromosome 15 can go missing, why this region is prone to deletions, and what it means when a deletion is de novo or inherited. He walks through how to read a genetic report, including breakpoints and deletion size.

He then covers the genes in the region, including CHRNA7 and OTUD7A, the wide range of features people with 15q13.3 can have, and the chances for future children. A good starting point for newly diagnosed families.

Simons Searchlight: 15q13.3 registry update

Dr. Cora Taylor, principal investigator, Simons Searchlight, Geisinger

Dr. Cora Taylor explains what Simons Searchlight is: a long-running natural history study and registry for rare genetic conditions, including 15q13.3. She covers what enrolling involves, from sharing a genetic lab report to yearly surveys, what families get back, and why research blood samples matter for DNA studies and stem cell models.

She then shares what the 15q13.3 registry shows so far about development, seizures, medical issues, daily living skills and behavior, and why the current data likely leans toward the more affected end of the range.

The neurology of 15q13.3: two decades of discovery

Dr. Ingo Helbig, Associate Professor of Neurology and Pediatrics, Children's Hospital of Philadelphia and the University of Pennsylvania

Dr. Ingo Helbig, a child neurologist who worked on some of the first epilepsy studies of 15q13.3, explains what is known about seizures in 15q13.3: the typical pattern of absence seizures, what that looks like on an EEG, how seizures can change over time, and why the picture can differ within one family.

He then explains what it takes to get a condition ready for clinical trials, drawing on other genetic conditions: asking families first, building natural history data, using existing medical records, and EEG biomarkers.

Closing remarks: what comes next

Ian Smith, President, Reed's Reach for 15q13.3

Ian Smith closes the conference with a short recap of the morning talks and a next step. Reed's Reach is funding a first experiment to test whether a drug with a long record of use in people can repair the brain-cell connections affected when OTUD7A is lost. The results will be published whether or not it works.

He also lists what families can expect after the conference: a written summary of the talks, links to slides, a resource contact list, clinical practice guidelines in progress, and OpenReach invitations.

For registered families

These sessions include research that is not yet published and families' own questions, so they are shared with families registered with OpenReach rather than posted publicly. Sign in to OpenReach with the email you registered with. They have the same captions in nine languages.