Simons VIP Spring Newsletter
Simons VIP on the Road
Study Coordinator, Heather Rocha, attended the annual American College of Medical Genetics meeting in March 21-25 to learn about advances in genetic testing technology as well as updates in clinical care for patients with genetic conditions. Heather attended two very interesting talks relevant to Simons VIP Connect families.
Dr. Katrin Mannik is a Senior Researcher at the University of Lausanne and the Estonian Genome Center, University of Tartu. Dr. Mannik's research is focused on better understanding of functional consequences of genetic variants and the complex etiology of genomic disorders, as well as genetic factors underlying complex neurodevelopmental traits and their co-morbidities in human population. Her presentation about 16p11.2 deletion syndrome, called “Genomic Disorders in Large Population Cohorts Reveal Unrecognized Adult Traits of the 16p11.2 CNV Syndromes,” discussed several issues related to puberty and reproductive health.
Dr. Ingo Helbig is a pediatrician and child neurologist currently working at the Children’s Hospital of Philadelphia with a focus on the diagnosis and treatment of genetic epilepsies. Dr. Helbig gave a fantastic talk about genetic testing in children with seizures, called “Seizures in the Genetics Clinic: A Comprehensive Update of Genetic Epilepsy Syndromes.”
Simons VIP Research Reminders
Registration Process Update
As part of Simons VIP research registration, we ask families to provide information about the members of their family that will be participating in the study and their genetic history. We have implemented a change to make it more convenient for study participants to tell us about who in the family will be participating. All new (and old!) families now have the option to complete the “Initial Phone Call” through a short form via email, rather than scheduling a phone call with one of the Simons VIP coordinators. We recognize that your families are busy, and it may not be easy to coordinate a call with one of our team members during working hours. If you have registered in the past and have not completed the introductory phone call, please contact us via email and we will send you the new family information form.
If you would like to provide this information over the phone, please contact us 855-329-5638 from M-F, 9AM to 4PM EST.
Lab Report Submission Info
The new Simons VIP website has several features that will get your family moving through the steps involved in research participation. The new “Documents” section allows participants to easily upload an electronic copy of the lab report for any family member that has had genetic testing. Lab report submission is an important part of the registration process and helps the team verify study eligibility.
Just a reminder to the Simons VIP research community to keep up-to-date with any surveys assigned to your profile or the profiles of family members! New registrants are reminded to complete consent forms so that your family may move forward with the next steps in participation. Enrolled participants are reminded to check their accounts for any pending research surveys.
Autism Brain Net
Simons VIP Connect and SFARI are partnering with the Autism Brain NET in research. Although there is substantial evidence from neuroimaging studies that the brain of a child with autism is undergoing abnormal development, little is known about the underlying cellular, molecular and genetic mechanisms that lead to the onset of autistic symptoms. The only way to answer questions related to the fundamental genetic and neuropathological aspects of autism spectrum disorder is to study brain tissue from individuals with autism spectrum disorder. Read more at: https://autismbrainnet.org/
Autism Brain Net is hosting two upcoming webinars as part of their series intended to educate the public on the challenges faced by parents with autism and how brain tissue research is addressing them. To get more information on these webinars please visit: https://takesbrains.org/research/
This month’s topics are:
The Simons VIP Team periodically updates the study’s Youtube page with webinars of various topics related to autism and developmental delay or the genetic changes we study. Here are some of the new videos we’ve added:
SCN2A is one of the genes most commonly associated with early-onset epilepsy, and has recently been linked to autism spectrum disorder and developmental delay. In this webinar, Drs. Kevin Bender and Stephan Sanders detail recent advances in our understanding of how different mutations in SCN2A contribute to the different forms of epilepsy, including benign infantile seizure and epileptic encephalopathy, and how these mutations contrast with those that contribute to autism. This development has important implications for understanding these disorders and in designing potential therapies in the future.
Brenda Finucane, MS, LGC, Associate Director of the Autism and Developmental Medicine Institute, shares her expertise on how Geisinger researchers have used Simons VIP data to learn about 16p11.2 and 1q21.1 deletions and duplications. Specifically, she discusses how we study multiple members of the same family (parents, siblings, and child with the genetic finding) to learn about variability in features among people with the same genetic diagnosis.
This webinar is brought to you by our collaborating partner, SPARK, and is presented by Wendy Chung, M.D., Ph.D., Principal Investigator of SPARK and Simons VIP. In this webinar, Chung discusses basic genetic concepts and shares recent scientific progress in autism genetic research. She also talks about the genetic aspect of SPARK.
Dr. Chung currently directs the clinical genetics program at Columbia University, where she performs human genetics research. She also assesses children with autism and other intellectual disabilities, using advanced sequencing techniques to identify the genetic basis underlying neurological conditions.
SPARK has a full series of webinars that Simons VIP families may find useful. The presenters are from a range of disciplines and their webinars provide insight on a variety of topics relating to autism and developmental delay.
16p11.2 and 1q21.1 Deletion/Duplication Families:
Simons VIP is coordinating with the Autism & Developmental Medicine Institute (ADMI) at Geisinger Health System in Pennsylvania to provide an additional research opportunity for 16p11.2 and 1q21.1 deletion and duplication families. ADMI is a clinical and research center, serving children and young adults with developmental disorders. The ADMI team includes a number of clinical staff, including developmental pediatricians, psychologists, speech language pathologists, behavior analysts, and genetic counselors, as well as researchers with expertise in human genetics, neuroscience, neuroimaging and informatics, and psychology. Together, their primary focus is on the diagnosis, management and treatment of developmental disorders.
The ADMI team would like to partner on a research study for children or adults living with genetic changes and their family members. In this study, they are studying how family background affects the clinical features in the child/adult with the genetic change, through online surveys and using saliva samples for genetic studies. Children/adults with 16p11.2 and 1q21.1 genetic changes and their family members are eligible to participate.
If you are interested in participating or would like more information, please contact Karahlyn Troutman by email at email@example.com or by phone at 570-522-6295.
Simons VIP Family Story
This edition’s “Share Your Story” feature was written by Caitlin, mother of 9 year old Della, who has an ASXL3 genetic change.
What is your child's relationship with his/her siblings like?
Extremely loving and close.
What does your family do for fun?
Listen to music, spontaneous dance parties, endless joking, and reading.
Tell us about the biggest hardship your family faces.
Financial issues and planning for the future are the biggest hardships that our family is facing.
What about your child puts a smile on your face?
Just about everything she does is adorable! I'm not exaggerating. From the way she eats popcorn to how she hides under the covers when she doesn't want to wake up to the look on her face when she does something naughty; our family can't get enough.
What motivates you to participate in research?
The desire to help other families. I want to help create the information that I wish was available for us.
How do you feel you are impacting our understanding of the genetic changes being studied in Simons VIP (16p11.2, 1q21.1, or single gene changes)?
Hopefully I am adding to the overall amount of information about the ASXL3 gene. I also try and encourage other families to participate.
What have you learned about your child's condition from other families?
That there are more similarities than differences in our children. There is strength in numbers and meeting new families has helped us to feel less alone.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Please reach out for help when you need it. No one has to do this alone.
What is one question you wish researchers could answer about your child's genetic change?
What is her life expectancy?
Is there anything else you would like to share with other families?
Never give up!
You can if you no longer wish to recieve updates from the study team.