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Simons Searchlight Announcements

November 19, 2019

Enrollment Progress

We had a record number of families join Simons Searchlight since launching our new website and name this summer. In September, we had 139 families register--a record-breaking number for a single month! 

Current enrollment totals:

Total families participating: 2,034

Total individuals participating: 6,975

Featured Video

Simons Searchlight & CHAMP1 — Why Research Matters

The Dumond family discusses what finding a diagnosis meant for them. Not only did they find a group of families similar to theirs, but they also found a new community that understands them on a level nobody did. They share why a genetic diagnosis was important to them and why they participate in research.

Link to video 

Researcher Profile: Who's Using Our Data? 

Andres Moreno De Luca, M.D.

Associate Neuroradiologist, Department of Radiology
Assistant Professor, Autism & Developmental Medicine Institute and Genomic Medicine Institute

Dr. Moreno De Luca’s research focuses on the discovery and characterization of genomic variation in individuals with neurodevelopmental disorders, including intellectual disability, autism, schizophrenia, epilepsy and cerebral palsy. He works out of the Geisinger Health Care system located in central Pennsylvania. 

De Luca has used the Simons Searchlight 16p11.2 deletion data set to study clinical variability of those with the deletion. Here is his publication.

2019 Family Meeting Recaps Part 2

In our last newsletter, we included the first half of our summaries from the family meetings we were able to attend in 2019. See below for part 2 of our busy year! 

CHAMP1 Family Meeting

By Lindsey Cartner
June 28-29, 2019
Orlando, FL

In June, we attended the first-ever CHAMP1 family meeting, held in Orlando, FL. The meeting was organized by the CHAMP1 Foundation and there were 18 families in attendance and several researchers and professionals. 
 
Friday, the families met up informally during registration and were able to introduce themselves to one another before the meeting officially started. On Saturday, the day was full of talks given by various researchers, professionals, and providers. The families had the opportunity to ask questions to the panel of presenters as well. 
 
The attendees were also interviewed in a collaboration between the CHAMP1 Foundation, the Simons Searchlight team and the SPARK team. The filming also took place throughout the meeting, and Simons Searchlight and SPARK were able to use some of the footage to create videos to share on social media with the goal of helping others understand the unique journey of Simons Searchlight families. The CHAMP1 Foundation is also using the footage to work on their own video! 

16p11.2 Family Meeting

By Lauren Walsh
July 13-14, 2019
Denver, CO

16p11.2 deletion and duplication families, friends and caregivers came together with researchers for a family conference in Denver, CO July 13-14, 2019. Families hailed from across the United States to hear from experts in the field, participate in research and spend quality time together.

The conference began with presentations by researchers, including Drs. Wendy Chung, Paul Wang and Baptiste Lacoste. The morning wrapped up with a panel discussion in which presenters were joined by Drs. LeeAnne Green-Snyder and Cora Taylor. After breaking for lunch, families enjoyed an open afternoon of one-on-one sessions with Dr. Green-Snyder, enrollment and/or participation in one of six on-site research studies, and even an impromptu karaoke session. 

The second and final day of the conference kicked off with a family photo in front of the hotel and wrapped up with more research participation and a trip to the zoo. Today, 16p11.2 del/dup families are working toward developing a family foundation to support fundraising and further research efforts.  

ASXL3 Family Meeting

By Simone Smith
July 18-20, 2019
Ann Arbor, MI

This past July, Bainbridge-Ropers Syndrome (ASXL3) families partnered with ASXL Rare Research Endowment (ARRE) Foundation to bring together families and researchers for a conference on three ASXL genes.  The conference was held in Ann Arbor, MI and was organized over three days of events.

The first day’s sessions were for professionals and featured presentations on a variety of topics and concluded with a panel discussion about funding research for ASXL-related disorders. The first day was also a family day, where attendees could connect and sit in on sessions about topics including communication, therapy and other services.

The second day was dedicated to medical research and included presentations from professionals about ASXL genetic diagnoses. This included a registry update from Simons Searchlight investigator Dr. Wendy Chung, who provided a summary of the information collected from enrolled BRS/ASXL3 families. The Simons Searchlight team was at the meeting to help families register for the study and to collect blood samples for research storage from interested families. Some attending families were also interviewed by the Simons Searchlight and SPARK teams. The filming took place throughout the meeting, and the team was able to use some of the footage to create videos to share on social media with the goal of helping others understand the unique journey of Simons Searchlight families. 

For the final day of the event, families gathered at the Washtenaw County Farm Park to reflect on the conference, solidify connections and enjoy fun activities together.

If you would like more information about the event, please visit: www.arrefoundation.org.

HNRNPH2 Family Meeting

By Kaitlyn Singer
July 25-26, 2019
Queens, NY

The families of the Yellow Brick Road Project along with Simons Searchlight and several researchers came together this July in Queens, NY, for the second annual HNRNPH2 family meeting. The meeting consisted of two full days of round tables, research updates, expert panels and research collection. 

Dr. Jennifer Bain, who has been working closely with this group, was in attendance with her team to collect more data and present findings from her natural history study. Dr. Ane Korff, of St. Jude Children's Hospital, presented on the progress of the HNRNPH2 mouse models, while Dr. Chris Adams of Cydan discussed the process of orphan drug development in the rare disease field. Simons Searchlight presented a registry update and answered questions from families. The round tables included topics of interest to the group such as seizures, speech, sensory processing and anxiety management. 

Yellow Brick Road Project Website

SCN2A Family Meeting

By Kaitlyn Singer
August 1-3, 2019
Seattle, WA

Simons Searchlight was honored to attend the 2019 FamilieSCN2A Foundation Professional & Family Conference in Seattle, WA, this August. Families and researchers met over two days to learn more about SCN2A and recent research advances. This was FamilieSCN2A's third meeting since their launch in 2013. The conference included a mix of family stories, informative sessions on SCN2A from a genetic level, clinical and phenotype presentations, updates on the SCN2A models, and topics of interest such as language, autism, applied behavior analysis and seizure-related activity. Parents could also attend smaller focus groups in the parental track series. 

Simons Searchlight, along with the TIGER study, was able to collect blood samples from 11 families to contribute to our repository for researchers to further advance understanding of SCN2A. 

For more information on FamilieSCN2A and the incredible advances they are making, visit their website: https://www.scn2a.org/ 

GRIN Family Meeting

By Curtis Weaver
September 13-14, 2019
Atlanta, GA

In mid-September, Simons Searchlight attended the Center for Functional Evaluation of Rare Variants (CFERV) conference in Atlanta, GA, which brought together families affected by changes in GRIN genes, including GRIN1, GRIN2A and GRIN2B. On the first day, researchers and physicians gave talks ranging from drug treatments to mouse models with plenty of time for questions and answers from both parents and other researchers. Simons Searchlight Project Manager Jennifer Tjernagel also gave a talk about Simons Searchlight and how the data collected can be useful for researchers.

On the second day, researchers from Saturday formed a panel and engaged in discussions with families about the research they presented. Families also formed smaller groups to discuss a variety of different topics that are important for families with children with a rare gene change. To end the meeting, Simons Searchlight researcher Jennifer Bain, M.D., Ph.D. provided a registry update for GRIN2B and encouraged GRIN2A and GRIN1 families to register for Simons Searchlight.

GRIN2B Foundation Website

Simons Searchlight Updates

Frequently Asked Questions 

We recently added a page on the Simons Searchlight website to answer frequently asked questions related to your registration and questions on how your data is being used by researchers. We will be adding to this section more in the coming months!

You can find the page by going to simonssearchlight.org and clicking “Frequently Asked Questions” on the research tab on the top of the page, or by clicking here.

New Genes Added

During the summer, Simons Searchlight added over 100 gene changes to the project including new single gene changes and new copy number variations. New gene changes will continue to be added periodically. You can find the updated list of gene changes we study here.
 

New Team Member

Rebecca Sheedy, L.G.C.

Genetic Counselor
Simons Searchlight - Geisinger

Sheedy earned her bachelor of science in biology with a minor in chemistry from Lebanon Valley College in 2017. She then earned her master's in genetic counseling from the University of Maryland School of Medicine in 2019.  During her time at the University of Maryland, her thesis focused on the role of genetic counselors in the recognition and prevention of sexual abuse in populations with intellectual disability. 

Sheedy joined Simons Searchlight in 2019 as a genetic counselor, working with variant interpretation and answering family questions. In her free time, she enjoys hiking, reading, and learning to play the cello.  

Simons Searchlight is on a quest to accelerate the genetic science of autism and related disorders. We want more answers. We want more progress.

Email: Coordinator@SimonsSearchlight.org
Phone: 1-855-329-5638
Fax: 1-570-214-7327

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