Inaugural
Conference
Philadelphia
research symposium
What the day is
On October 3, 15q13.3 families and the researchers and clinicians who work on 15q13.3 will spend a day in the same building. The morning will be four research talks. The afternoon will run consult rooms and facilitated discussion sessions side by side, with a live Q&A carried on the livestream. Opening, meals, and closing are shared. Every research talk will be livestreamed and recorded, so families who cannot travel can watch live or later.
The program and times are below. In-person registration closed on September 19. Livestream registration stays open until noon Eastern on October 2.
The day at a glance
Saturday, October 3. All times Eastern. Move between rooms as you like.
Research talks, on the main stage and the livestream
- 8:00Registration, coffee and name tags
- 8:00Simons Searchlight booth and blood draws for the research biobank open, through 2:00
- 8:30Welcome from Ian and Melissa
- 9:00Dr. Christian Schaaf: clinical and molecular characterization of 15q13.3 microdeletion syndrome
- 9:30Dr. Cora Taylor: Simons Searchlight registry update, what the caregiver-reported data shows and how families can take part
- 10:15Break
- 10:30Dr. Karun Singh: From Genes to Brain Development: New Insights into 15q13.3 Microdeletion Syndrome
- 11:00Dr. Ingo Helbig: The neurology of 15q13.3 — two decades of discovery
- 11:30Dr. Takahiro Soda: mental health across the lifespan, including depression, ADHD, anxiety and psychosis risk
- 12:15Lunch, everyone
Questions come from the room and from the livestream. Every talk will be recorded, with English subtitles posted afterward.
1:00 to 5:00, two things at once
Running all afternoon, consults by booked slot
- Psychiatry consults, Dr. Takahiro Soda
- Behavior consults, Arielle Marshall, M.A., BCBA
- Neuropsychology and school report review, Regilda Anne A. Romero, PhD
- Genetic counseling and diagnostic report review, Emily Palen, MS, CGC, with Emily Cook, Simons Searchlight
- IEP and psychometric review, Dr. Cora Taylor, after her talk through early afternoon
- Simons Searchlight booth and blood draws for the biobank, with Aidan Sandhoefner, 8:00 AM to 2:00 PM
- OpenReach registry help from parent volunteers, in a private booth, no appointment needed
- Newly diagnosed welcome table, drop in at any point
- Kids' program, all day
Discussion sessions, main room
- 1:00Live Q&A with Dr. Christian Schaaf, Dr. Karun Singh, and Dr. Cora Taylor, taking questions from the room and the livestream
- 2:00Aggression and dysregulation
- 3:00Mental health, mood and adolescence
- 4:00Feeding, GI and sleep
Each topic session is facilitated by a licensed clinician. Our cameras stay out of these sessions and nothing said in them is recorded.
Closing remarks and reception
- 5:00Closing remarks, until 5:15: what we heard during the day, and the three things Reed's Reach will take on next. Clinical guidelines you can hand to a pediatrician, a resource and contact list, and provider takeaway guides.
- 5:15Reception, until 6:30. In person only. We finish early enough for dinner afterward, and for families driving home the same day to get on the road.
Morning research talks
All five talks are on the main stage and on the livestream, with questions from the room and from remote viewers. Recordings with English subtitles will be posted afterward.
Dr. Christian Schaaf
Executive Medical Director of the Institute of Human Genetics. Dr. Schaaf leads Resolve 15q, a European consortium working on outcomes and biomarkers in 15q13.3 copy number variants. Talk: Clinical and molecular characterization of 15q13.3 microdeletion syndrome.
Dr. Cora Taylor
Simons Searchlight Principal Investigator and clinical psychologist. Dr. Taylor works with the caregiver-reported data families have contributed to the Searchlight registry. Talk: Simons Searchlight registry update, what the caregiver-reported data shows and how families can take part. She will also meet families one on one after her talk to go through IEPs and psychometric reports.
Dr. Karun Singh
Senior Scientist at Krembil and Associate Professor at the University of Toronto. Dr. Singh's lab builds stem-cell-derived brain organoid models of 15q13.3 and works on the pharmacology that follows from them. Talk: From Genes to Brain Development: New Insights into 15q13.3 Microdeletion Syndrome.
Dr. Ingo Helbig
Child neurologist, Associate Professor of Neurology and Pediatrics, and Clinical Director of the Center for Epilepsy and Neurodevelopmental Disorders at CHOP, where he also leads the genomics side of the Epilepsy Neurogenetics Initiative. Talk: The neurology of 15q13.3 — two decades of discovery.
Dr. Takahiro Soda
Psychiatrist at the UF Center for Autism and Neurodevelopment. Dr. Soda works on mental health across the lifespan in neurodevelopmental conditions. Talk: mental health across the lifespan, including depression, ADHD, anxiety and psychosis risk.
In the consult rooms
Fifteen minutes one on one with a clinician, 1:00 to 5:00. Sign-up opens September 20: in-person registrants get the link by email. Book one slot per clinician per family. When you sign up we will ask for your child's reports, so the clinician can read them before you sit down. Walk-ins are welcome during the afternoon when a slot is open, but booked families come first and the clinician will not have seen your reports, so please book ahead.
IEP and psychometric reviewDr. Cora Taylor
IEP and psychometric review, after her 9:45 talk through early afternoon. Bring your child's IEP, 504 plan or most recent school evaluation and go through it with her.
PsychiatryDr. Takahiro Soda
Mood, anxiety, ADHD, sleep and medication questions. Bring your child's current medication list and any psychiatric or developmental evaluations.
BehaviorArielle Marshall, M.A., BCBA
Challenging behavior at home and school, and how to set up a behavior plan that works. Bring your child's behavior plan or functional behavior assessment if there is one, and a note of the behaviors you most want to change.
Neuropsychology and school report reviewRegilda Anne A. Romero, PhD
Neuropsychological testing and what the numbers mean for school. Bring your child's most recent neuropsychological or psychoeducational evaluation and go through it with her.
Genetic counselingEmily Palen, CGC, MS
What your child's genetic test result says and what it means for siblings and future pregnancies. Bring the genetic test report.
Genetic counselingEmily Cook, BS
Emily is a genetic counseling student working with Simons Searchlight on her thesis. She will sit in on Emily Palen's consults.
- Simons Searchlight booth and blood drawsAidan Sandhoefner of Simons Searchlight runs the Searchlight booth, no appointment needed. The Searchlight team will draw blood samples on site all day for the Simons Searchlight research biobank. Families already enrolled can give their sample here instead of arranging a separate visit; if you are not enrolled yet, the team can help with that on the day.
Dates that matter
In-person registration is now closed. You can still register for the livestream until noon Eastern on October 2.
If you are registered in person, watch your email for your consult sign-up link and the program.
Registered attendees will get the final program that week. Livestream registrants will get the viewing link. Consult sign-up for in-person families opens September 20 by a separate email.
Free. Research talks live, plus the subtitled recordings afterward.
Registration and coffee from 8:00, welcome at 8:30, first talk at 9:00. Closing remarks at 5:00, reception 5:15 to 6:30.
Register now
Please select one ticket per attendee.
All tickets are free. If you are coming in person and can give a few hours on the day, take the volunteer ticket: registration desk, room help, getting families where they are going. Volunteers attend everything.
Pre-conference survey
The survey is open, and it will stay open after October 3. Forty-two households have answered so far. Your answers set the afternoon discussion topics, and they do more than that: what families report about seizures, medications, behavior and daily life is the evidence Reed's Reach will bring to researchers when we make the case for clinical trials in 15q13.3. It is an IRB-approved research instrument and responses are anonymized.
Your link came by email and is specific to your household. If you cannot find it, write to contact@reedsreach.org and we will resend it.
Kids' program
A full-day program for children will run alongside the sessions, staffed by people who work with special-needs children, so parents can attend. If you have a child coming, note it on your registration and we will send the intake form by email.
Adults with 15q13.3 are attendees, not kids' program participants.
For researchers and clinicians
If you work on 15q13.3 or on adjacent CNVs and neurodevelopmental conditions, in-person registration closed on September 19; you can still register for the livestream above, and if you need to join us in person, write to contact@reedsreach.org. The research track is the four morning talks, the live Q&A at 1:00, and an invited clinical-guidelines working group from 3:00 to 5:00.
Registered researchers and clinicians so far come from Heidelberg University Hospital, Geisinger and Simons Searchlight, the Krembil Research Institute, the University of Florida, and Children's Hospital of Philadelphia.
Questions: contact@reedsreach.org
FAQ
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1600 Market Street, 2nd floor, Center City Philadelphia. A modern building close to the Franklin Institute, Academy of Natural Sciences, Philadelphia Museum of Art, and Rittenhouse Square.
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Our group rate at the Sonesta Philadelphia Rittenhouse Square closed September 2. The hotel is a three-minute walk from the venue and rooms are available at its public rate.
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Philadelphia is easily accessible via major interstates, international and regional airports, and is situated on the Northeast Corridor train line with easy accessibility to Boston, NYC, Washington, DC and points south.
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Breakfast and lunch are included during the conference. The evening reception is also included.
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A full-day kids' program will run alongside the sessions, staffed by people who work with special-needs children. If you noted a child on your registration, you will receive an intake form by email that asks about age, medical needs, and what helps your child have a good day. If you did not note a child and need to, write to contact@reedsreach.org.
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The survey is open and stays open after the conference. Responses are anonymized for research under an approved IRB protocol. In aggregate they set the afternoon discussion topics, and they are the community data Reed's Reach will bring to researchers when we make the case for clinical trials in 15q13.3. Every registered household received a personal link by email; if you cannot find yours, write to contact@reedsreach.org and we will resend it.
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Consults are fifteen minutes with one clinician, 1:00 to 5:00. In-person registrants will receive a booking link by email before the conference. Book one slot per clinician per family so every family gets a turn, and please book ahead: booked families come first. If a clinician has a free moment on the day you are welcome to drop in with a general question, but a full consult needs a booked slot. Bring your child's most recent reports: evaluations, IEP, diagnostic report. Consults are advisory and educational, not diagnosis or treatment, and do not replace your child's own care team.
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All morning research talks will be livestreamed, and the afternoon feed will carry a live Q&A with the speakers at 1:00. Registered livestream attendees will receive the viewing link by email the week of the conference. Recordings with English subtitles will be posted afterward, with translations to follow. Consult rooms and discussion sessions are in person only.
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During checkout you will be asked for a photo release so we can use photos that include you in updates we share with the community on our website, in social media, and through our mailing list.
Your privacy is of paramount importance to us. If you do not wish to be photographed you will be issued a ‘do not photograph’ lanyard on the day of the conference and photos that include you will not be shared. -
The conference will be held in an accessible location. If you have specific accessibility needs, please list them in the questionnaire during check-out and we will do our best to accommodate them.
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The conference will be held in English. We will offer translations of the livestreams after the conference.
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You can cancel at any time through your event link included in your receipt.