Interview with Brigitte Widemann, MD about Koselugo (selumetinib) the First FDA Approved Drug for NF (HERE)
~~~
3/20/2020
New study just published:
Selumetinib in Children with Inoperable Plexiform Neurofibromas
Gross AM et al.
CONCLUSIONS
In this phase 2 trial, most children with neurofibromatosis type 1 and inoperable plexiform neurofibromas had durable tumor shrinkage and clinical benefit from selumetinib.
Author and journalist Olivia Gordon, has written a moving book about her son’s diagnosis with Noonan Syndrome, and it’s now published in the United States. It’s a medical memoir crossed with a popular science book about how doctors save the sickest babies, and Olivia’s family’s story runs through it, with NS playing a big part (and all the things like surgery, neonatal care and developmental issues that often go with NS).
THE FIRST BREATH is published by Pan Macmillan – please look out for it!
~~~
1/18/2020
Penn Orphan Disease Center Announces the MDBR Grant Awardees: Congratulations to Dr. Gregor Andelfinger, CHU Sainte Justine Research Center, Université de Montréal for his RASopathies project “MEK inhibitors for the treatment of hypertrophic cardiomyopathy”
~~~
8/26/19
A.2020 Million Dollar Bike Ride (MDBR) Grant Letters of Intent (LOIs) Due September 23, 2019 8pm EST. RASopathiesNet raised $59,225! Thank you Riders and Donors! More on submitting the LOIs HERE (this link takes you to the University of Pennsylvania Orphan Disease Center’s website)
B.2019 Winner Bruce Gelb presented the abstract, “Advancing a Novel Therapeutic Lead for the RASopathies,” on his MDBR grant-winning research project at the 6th International RASopathies Symposium
C.2021 SAVE THE DATE!7th International RASopathies Symposium July 23-25, 2021 at the Denver Marriott Tech Center
~~~
11/5/18
A record number of applications for the 2018 MDBR RASopathies Research Grant – Stay Tuned for the Winners!
~~~
8/16/18
University of Pennsylvania’s Orphan Disease Center Annual MILLION DOLLAR BIKE RIDE 2018 Request for Applications released! Deadline for Letter of Interest is September 10, 2018, 8pm EST. International Researchers Welcome. More HERE.
~Congratulations, Max, and thank you SO MUCH for all you’re doing for RASopathies and Rare Diseases!~
~~~
A Brief video on Bruce Gelb and his interest in RASopathies research, particularly Noonan syndrome.
~~~
Opportunity to participate in one of the first studies looking at the relationship between quality of life, behavior, and social cognition in RASopathy syndromes
A new online study by Paige Naylor, doctoral candidate at Palo Alto University in California, is recruiting families who has a child with any RASopathy syndrome between the ages of 8-18, and who can communicate in English. The study is looking at the relationship between social cognition, quality of life, and various medical/behavioral factors. If enough participants from each RASopathy participates, the researcher will be able to publish relevant data for each disorder.
This project can be done long-distance, and should have a time commitment of less than three hours:
• Parent online survey (~1hr)
• Child online survey & assessment (~1 hr)
• Parent phone survey (~30 minutes)
Questions or want to get started? Email Paige Naylor at rasopathies.pau@gmail.com or call (504) 881-3925.
This study is sponsored and monitored by the Palo Alto University IRB. The research team includes Dr. Wendy Packman and Paige Naylor.
~~~
Hi everyone, this is a blog that invites resources from families to share. The first one is from Southern California, TASK
Premier for Google Chrome offers various functions to support your learning needs. You can access the content of your choice knowing that your learning tools will look and work the same on any compatible, supported, Chrome-based device. The Premier for Chrome tools provide students with practical learning solutions for different platforms while retaining the same look and feel of the tools they know how to use. It provides students with the power and flexibility they need to be successful in the digital age. Tools include:
To try these tools yourself, make an Individualized TECH Lab appointment ordownload a free trial copy. THANK YOU so much to Premier Literacy for donating this wonderful tool to our Tech Center.
Enabling Devices Launches New Website
A state-of-the-art website and online catalog makes shopping easy and customer-friendly. The re-designed, mobile-friendly site is accessible, easy to navigate and features larger, sharper, multifaceted images of products. The newenablingdevices.comis also chock full of resources and multimedia product information and offers consumers a streamlined approach to selecting and ordering products.
Developed for teachers, therapists, counselors and parents, this app has three exciting levels with numerous video prompts to break down social situations into functional terms. This interactive app teaches children with autism, Asperger’s and other special needs how to appropriately engage in everyday situations. It teaches them how to use their eyes, ears and brain to make smart social guesses and investigate clues to see how others’ emotions and responses are connected to their own behavior.
This is the next addition to the Social Detective Beginner app and a companion to theYou Are a Social Detective book by Michelle Garcia Winner and Pamela Crooke. The Social Detective Intermediate app picks up where the Beginner app leaves off and focuses on decoding the thoughts and emotions of people students interact with day to day. Using this information, students will make smart guesses to predict what those people might do or say next.
This app teaches children and adolescents empathy and how to take the perspective of others. The app allows users to match the appropriate thoughts, feelings and verbal dialog to the individuals shown in various social scenarios in an elementary school, middle/high school and in the community. Multiple users from seven years of age through teens can relate to these familiar settings and their progress may be saved and used for data collection.Users must be readers or have someone available to read answers to them.
Many children, particularly those with ADHD or autism spectrum disorders, are unaware of how people feel and how their comments may hurt or offend others. In level I, children learn to identify the many feelings a person can experience in one situation. In Level II, children take the next step and learn appropriate empathetic responses. This app is best used with an adult who can discuss or explain the content.
Find top-rated kids apps, get advice on finding the best educational websites and read about the best of the best kids apps and educational products. Get in-depth ratings, reviews, and buying advice for must-have children’s apps based on rigorous expert testing.
Online Games:
Everyday Speechhas free interactive games online that focus on social skills and emotions. Simply register for a free account to gain access to the following games:
TASK is a nonprofit Parent Training and Information Center that serves all ages and all disabilities. TASK is funded in part by grants from the U.S. Department of Education and the California Department of Education. The views expressed in this e-mail newsletter do not necessarily represent those of TASK, the U.S. Department of Education, the State of California or any other funding source, nor are they an attempt to aid or hinder the passage of any bill before congress. Advertisements or refernces to trade names, commercial products or organizations do not constitute endorsement by any of the above.
Opportunity to participate in one of the first studies looking at the relationship between quality of life, behavior, and social cognition in RASopathy syndromes
