September 2016 Newsletter



Dear Families,

Can you believe that back-to-school season is upon us already? As you’ve prepared your kids for new teachers, new routines, and maybe new schools, we hope you’ve had a smooth transition into the new year. For kids with autism and difficulties with social relationships, growing up and starting a new program can be especially challenging. The Organization for Autism Research put together five tips on how to help your family be successful for the upcoming school year. (Attached)

We’ve been getting ready for a big change, too: The Simons VIP website upgrade! As you may have noticed, we recently upgraded our website to make it easier to complete surveys from your smartphone and tablet, making it even easier to participate in research. In the next few months, watch for webinars about using and navigating the new site. Please let us know if there are any specific topics you would like to see covered.

Why are blood samples important in research?

Blood samples are critical when researching rare diseases. The more samples scientists have available to study, the better their chance to understand the mechanisms of the disease, which may lead to the opportunity to discover ways to treat or prevent the disease. Simons VIP makes it easy for qualified researchers to access samples, as we centralize the collection and storage in a large biobank. If you have consented to the optional research blood draw and haven’t been contacted by Simons VIP, or if you have any questions about these research blood samples, let us know! We are happy to coordinate in-home phlebotomy, at no cost to you, for your family.

Conference Recap: SCN2A

Several members of the Simons VIP Connect study team recently traveled to Chicago at the end of July to support the FamilieSCN2A group as they put together their first international conference. Organized by motivated parents, the event focused on bringing SCN2A families together to connect and learn from each other and the many researchers and clinicians in attendance. The conference agenda varied in interesting topics that provided our genetic counseling team with new information to bring back to Simons VIP families, including an update on the diagnosis and care of seizures. The conference’s video recordings can be viewed on the FamilieSCN2A website, at:!2016presentations/xutgg

Here are some of the key topics covered at the meeting:

  1. Of particular relevance to all Simons VIP Connect community members who have children with seizures is a talk by Dr. Maria Roberta Cilio, a pediatric and neonatal epileptologist. Dr. Cilio serves as the director of research in pediatric epilepsy at the UCSF Epilepsy Center and is internationally renowned as an expert in the diagnosis and treatment of early-onset epilepsies and epileptic encephalopathies. Her research aims to improve the diagnosis and treatment of rare epilepsies, particularly those that are genetic, which occur in the very first years of life. At the meeting, she eloquently explained subtle differences between seizure types, onset of seizures, and features she looks for while a seizure is happening to better understand what the underlying mechanism may be. She also explained different types of medications, and why some work and others don’t for children with certain types of genetic conditions.
  2. Questions about the Ketogenic diet? Watch the recording from this broadly relevant talk given by Wes Loman from the Lurie Children’s Hospital in Chicago.
  3. Genetic Testing Reports, Explained! (Finally!) Dr. Ingo Helbig, a physician researcher from the Children’s Hospital of Philadelphia, prepared an excellent talk describing how to read genetic test reports. While he focuses on SCN2A, the information is relevant to anyone who has had a panel test or exome sequencing.

In preparation for the FamilieSCN2A conference, Leah Schust, Parent and President of the FamilieSCN2A Foundation, worked with the Aicardi Foundation and the Dravet Syndrome Foundation to put together a list of Funding Agencies that offer grants to families to defer conference travel expenses. Review that resource HERE:!scn2a-conference-resources/caffy

Conference Recap: DYRK1A

Ten DYRK1A families held their first family event July 29 – 31 in Cincinnati. The event was organized by Amy Clugston, a parent to a child with a DYRK1A gene change. On Friday, families met for pizza and social time. On Saturday, the families met at Cincinnati Children’s Hospital for a day of educational sessions. Topics included the basic genetics of DYRK1A, an update on the TIGER study and DYRK1A findings, the importance of participating in studies like Simons VIP, music therapy, and discussion of organizing the parent support group. The family group enjoyed a fun day at the Cincinnati Zoo on Sunday.

Simons VIP, by the numbers

  • Genes with 0-4 registered families: ANKRD11, CHD2, CHD8, CTNNB1, CSNK2A1, HIVEP2, HNRNPH2, KAT6A, MBD5, PTCHD1, SETD5, SMARCA4, SMARCC2, TBR1
  • Genes with 5-10 registered families: ARID1B, ASXL3, DYRK1A, FOXP1, MED13L, PTEN,
  • Genes with 11-25 registered families: ADNP, GRIN2B, SYNGAP1,
  • Genes with 45+ registered families: SCN2A (51!!), 16p11.2 deletions, 16p11.2 duplications, 1q21.1 deletions, 1q21.1 duplications

If you’ve connected with other families who have your same genetic change, encourage them to participate in Simons VIP Connect. Our study and registry are unique in that we curate all medical, genetic, and behavioral information collected from our interviews and surveys in way that makes it easy for many different researchers to use your information. By participating in Simons VIP Connect, you share your information once per year and help contribute to MULTIPLE studies.

Summer Interns

Our summer Intern, Nate Hassel, a genetic counseling student from Sarah Lawrence College is wrapping up his time with Simons VIP Connect. This summer, he completed a 16p11.2 Duplication Guidebook that is in the final stages of review, as well as a webinar explaining different types of genetic mutations. Both of these resources will be released in the coming months. Gabby Shermanski, a Penn State University student interested in genetic counseling, also greatly helped the Simons VIP team this summer. Gabby aided the team by increasing website content, which included various up-to-date research article summaries that will be posted to the website soon. She also helped create a webinar on the basics of genetics that will be recorded and posted on our YouTube page. We extend a warm “thank you” to Nate and Gabby for their hard work.

Additional Research Opportunities

1. IMAGINE ID Research Opportunity: Can you help?

  • IMAGINE ID is a research study that aims to increase understanding of children and young people with intellectual disability. It is supported by UNIQUE, the rare chromosome disorder charity. The IMAGINE ID team is very keen to learn more about the link between behaviour and rare chromosome conditions. The study, led by University of Cambridge, University College London and Cardiff University, hopes to collect information from over 5,000 families by 2019.
  • To participate in IMAGINE ID your child should be between 4 and 18 years old. The research group is based in the UK but they are interested in families worldwide. If you live outside the UK, to take part you must have access to your child’s genetics reports. Taking part involves filling out secure online questionnaires about your child’s development and behaviour from the comfort of your own home. If you’re not comfortable with computers or do not have access to the internet, the IMAGINE ID team can go through the questionnaire with you over the telephone or in person. The questionnaires will take approximately 3 hours, but you are able to save your answers as you go and can log in an unlimited number of times to complete it.
  • After completing this you will receive a personalised summary report which you may find useful when your child is undergoing assessment for services, school or specialist treatment. If you wish, members of the IMAGINE ID team may also visit you at home to conduct an interview with you and puzzles with your child.
  • If you are interested and want to find out more about the IMAGINE ID study please read their invitation booklet here and contact them by telephone on +44 (0)1223 254 631 or email them at This email address is being protected from spambots. You need JavaScript enabled to view it. The team is very happy to answer any questions you have.

2. Learning About Learning in People with 16p11.2 Deletions

  • Researchers at Columbia University Medical Center are exploring how persons with 16p11.2 deletions learn about the world around them, since they may learn differently compared with those without the deletion. At last summer's Simons VIP Family Meeting, the research team worked with many families whose children with 16p11.2 deletions played laptop computer games designed to provide insights into how they learn.
  • Early results suggest that people with 16p11.2 deletions may differ in "learning style", compared with those without the deletion, in how they take in and process information, particularly involving patterns and categories. To understand those differences more deeply, and potentially find better ways to help individuals with 16p11.2 deletion learn more effectively, more test data is needed. For families who would like to participate in this study, we will arrange testing at a location convenient to you. The testing involves playing computer games, takes less than an hour, and is open to individuals age 8 years or older.

For more information, contact study coordinator Richard Lipkin
Email: This email address is being protected from spambots. You need JavaScript enabled to view it.; Phone: 646-228-2566

Upcoming Events

Family Day for 16p11.2 Syndromes on October 22, 2016 in the United Kingdom!

The Genetic Alliance UK / Rare Disease UK has organized a Family Day for families with 16p11.2 deletions and duplications at Cardiff University in Cardiff, Wales, UK! Much like the Simons VIP Family Meetings, this event will allow researchers, families, and representatives from support groups like Genetic Alliance UK ( and Unique ( to meet in-person. In addition to presentations from the UK-based research studies ECHO and IMAGINE-ID, the Simons VIP study team will also be presenting to the group remotely from the US! Families who are interested in attending can check out the event agenda and register here:

All the best,
The Simons VIP Connect Study Team