Summer 2017 Newsletter

 

 


 

 

Simons VIP Summer Newsletter

 

 


 

Enrollment Update

 

Check out this graph showing Simons VIP Connect registration of our Single Gene Families!


 
 

 

 

 

A graph showing the number of families registered for research in each genetic change group is updated weekly on Simons VIP Connect’s website click HERE to see any updates!  

 


 

16p11.2 Families

 

Are you part of a 16p11.2 deletion or duplication family in the United States? Check out this awesome graph below of where you are all located at!

 

 

 


 

Summer Family Meetings

 

This summer at Simons VIP was no time for a vacation! We had multiple family meetings happening all over the United States and also another upcoming one in December! Below is a list of the family meetings:

 

 

Family Group

Date

Location

Number of Families

DYRK1A

July 1

Kansas City, MO

13

16p

July 7-8

Kansas City, MO

11

SCN2A

July 14

Wilmington, DE

79

PPP2R5D

August 3-5

Washington, DC

25

STXBP1

December 1-3

Stanford, CT or Philadelphia, PA

(Registration not open yet)

 

 


 

IMFAR Recap Summer Family Meetings

 

Some Simons VIP staff members attended the International Meeting for Autism Research in San Francisco, CA in May. There were many sessions relevant to genetic underpinnings of autism, including a panel session on autism with known genetic associations. Several talks were presented that may be of interest to the Simons VIP community.

 

  • Dr. Stephan Sanders, an assistant professor at the University of San Francisco, presented research entitled, “Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals with Autism Spectrum Disorder or Infantile Seizures.” His research discussed the differing effects of loss of function versus gain of function variants on phenotypic presentation. While gain of function* changes were associated with seizures, loss of function** variants were associated with autism spectrum disorder.       
  • Rachel Earl, Ed.S presented research entitled, “Phenotypic Presentation and the Role of Parental Phenotype in Accounting for Variability in Individuals with DYRK1A Mutations.” This research discussed how family background, such as parental head circumference, may influence the clinical presentation of the child with the genetic change.

 

 *gain of function: genetic mutations that cause proteins to work in a new and often harmful way. 
**loss of function: genetic mutations that cause proteins to not work at all.

 


 

New Team Members

 

 https://simonsvipconnect.org/images/Kaitlyn.png

Kaitlyn Singer, MS

Study Coordinator at Geisinger Health System's Autism & Developmental Medicine Institute (ADMI)

Kaitlyn earned her BS in Health Science with a Pre-Professional focus from Lock Haven University in 2011 and then completed her MS in Biomedical Anthropology at Binghamton University in 2014.  After graduate school, she worked as a Clinical Research Coordinator at Hunterdon Hematology Oncology where she helped place patients on multiple Pharmaceutical and NIH-funded cancer trials. Kaitlyn is excited to become a research coordinator for the Simons VIP Connect team.

When Kaitlyn is not working, she enjoys being with her friends and family, trail running or hiking, attending concerts, traveling, reading and attempting new recipes. 

 

Lauren Kasparson, MA

Project Manager at Geisinger's ADMI

Lauren received a BA in Cellular Neuroscience from Colgate University in 2015 and an MA in Psychological and Brain Science from Boston University in 2016. She has research experience on a range of studies from animal models to clinical genomics.

Lauren currently works as a project manager at the Geisinger Autism & Developmental Medicine Institute in Pennsylvania, where she works in part on both Simons VIP and SPARK. In her free time, Lauren enjoys watching football, cooking, and doing crossword puzzles.

 

 

 

 

 

 

Devin Shuman, MS

 

Genetic Counselor & Research Coordinator at Geisinger's ADMI

 Devin earned her BA in Psychology from Smith College in 2014 and then completed her MS in Genetic   Counseling at the University of California Irvine in 2017.  She has spent the past eight years volunteering with a  rare genetic disease family advocacy group, focusing on building their teen and young adult support network.  Devin currently works as a pediatric genetic counselor at ADMI.

 She cannot wait to get to know the families involved in the Simons VIP project and is her anytime if you have any genetics questions!

 

 


Family Story Feature

Your family's story could be featured in our next newsletter!

Complete the survey today: https://www.surveymonkey.com/r/6TXN9JC 


 

 Simons VIP Registration

 

If you’ve recently registered for an account on www.simonsvipconnect.org using a mobile device or tablet, you may not have been prompted to complete all steps in the initial registration process. During registration, if you were not prompted to add family members, you may do so by logging into your Simons VIP Connect profile and using the “Add a Family Member” feature, under the Family Dashboard section.

 

NOTE: Only add family members who are under the age of 18 or of whom you have legal guardianship.

 

Because family members 18 and over will need to register for an account separate from the main account holder, your family will likely have two accounts. For many families, one parent will register first, create profiles for the children, and complete their research consent forms. The other parent will then create a separate research account that the Simons VIP coordinators link together on their end. In this scenario, both parents will complete consent for themselves.

 

 

 


 


SCN2A Run Recap


We were excited to have one of our team members, Heather, participate in

the SCN2A 5k on April 29th in Middletown, Maryland. 100% of the profits go

directly to the FamilieSCN2a Foundation to help find a cure! An incredible

$26,583 was raised from this event.  

 

https://www.scn2a.org/color4cure

 

 

 

 


PACS1 Family Gathering


The first PACS1 Family Gathering took place in Williamsburg, VA on April 30. The gathering, organized by dedicated families, focused on connecting families who have children with the PACS1 genetic variant. The families enjoyed a group outing to Busch Gardens on Saturday, and on Sunday, gathered together for a 2-hour lecture given by Dr. Chung.
 
This motivated group encouraged families to complete their online consents and complete the medical history interviews online and over the phone so that Dr. Chung would be able to report data back to the families, and talk about future research directions.
 
The Simons VIP Connect study team attended to collect saliva samples from parents in attendance. Eighteen families were able to contribute a sample; others brought their lab reports to review, and several had “Ask-The-Expert” sessions with Dr. Chung to ask their question about PACS1.
 
In regards to children who are born with PACS1, Dr. Chung explained to us how we have 46 chromosomes, 23 from each parent. What she found interesting is that for persons with PACS1, they all have one perfectly working PACS1 gene and one that has an alteration causing it to not work properly. What is interesting, and very unique to this group, is that all the kids in the study have the exact same variant, called “c.607C>T” (also called “p.R203W”). This is not something we commonly encounter in genetics. In many other genes we study, we’ve seen very few children with the exact same mutation.
 
The meeting brought families and researchers together for a common interest, and we look forward to what the future holds for this group. Congratulations to all the families involved in making the event a success and thank you for including the Simons VIP Connect team.
 

 


 Featured Simons VIP Video

In each newsletter, we are going to start providing you all with a link to one of our webinars! If you check out our YouTube channel, there are multiple helpful and educational videos, with plans for more in the future!

 

Title: Simons VIP Webinar Series: Understanding the Special Needs Financial Planning Workbook

 

Link: https://www.youtube.com/watch?v=EYKaN3uYHGQ