Headlines

The 2024 Million Dollar Bike Ride RASopathies Research Award Goes To:

Dr. Sattar Khoshkhoo is awarded $58,222 to develop an iPSC (induced Pluripotent Stem Cell) – based platform for characterization of neuronal circuit dysfunction in RASopathies. RASopathy syndromes affect brain development, behavior, cognition, & processing, which can lead to anxiety, autism, ADHD, & seizures. This project will establish a method using normal and mutant cells to study nerve connections in a dish & how they respond to experimental therapeutic drugs!

Congratulations to Dr. Khoshkhoo and thank you to all of our donors, supporters, and bike riders, and Penn Medicine Orphan Disease Center for their contributions to advancing research to benefit individuals with a RASopathy.

RASNet President, Beth Stronach, participated in a Town Hall meeting of the National Commission on Lymphatic Disease. She was accompanied by two patient ambassadors who shared their experience.

RASopathies are one of the most common causes of CCLA, central conducting lymphatic anomalies. Estimates are that 1 in 5 people with a RASopathy have some lymphatic dysplasia (anomaly).

RASNet Slides for NCLD 2024

 

RASopathies Network attended the 5th RAS Initiative Symposium in Frederick, MD and presented a poster entitled “Unmet Needs in RASopathies”

Lisa Schoyer and Beth Stronach

RASopathies Natural History Study

ENROLLING, Looking for individuals with #Costello syndrome

FLYER PDF to SHARE

9/30/2024

RASopathy family picnic in Cincinnati on Saturday October 12, come out and meet new friends.

Sponsored by Cincinnati Children’s Hospital Genetics Department

8/15/2024:

CALL FOR PROPOSALS

RASopathies Research Pilot Grant

$58,222

Letter of Intent Due Sept. 20, 2024

 

 

 

1/12/2024:

Announcing the 2023 Million Dollar Bike Ride RASopathies Research grant award:

 

 

4/1/2023:

Watch our informative webinars

See the full list

 

4/1/2023:

10th Annual Penn Million Dollar Bike Ride

Registration is open

Donations welcome!

 

10/30/2021

RASopathies Natural History Study

NOW ENROLLING

FLYER PDF to SHARE

8/14/2021:

Announcing the #HACK4RARE RASopathies Track Winners

3rd prize: Team PsychNetwork 

Development of an Interactive Application (Level Up) to track and store developmental milestones in RASopathies children

2nd prize: Team RASoplayers

Development of a gamified application to be used for early stage neuropsychological and social skills screening of RASopathy patients

1st prize: Team TrackPain

Development of a multicomponent design to identify and predict occurrences of pain for non-communicative RASopathy patients

6/17/2021

RASopathies Overview Webinar for #HACK4RARE Challenge

JUNE 17  9-10am PDT / 12-1pm EDT

Registration Link Here

 

 

 

 

 

 

 

 

 

4/20/2020

Study participants needed

Association of Non-NF-1 RASopathies and Brain/Spinal Cord Cancers

Study Flyer

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4/10/2020

Big Announcement:

FDA Approves First Ever Treatment for Neurofibromatosis

https://www.ctf.org/news/fda-approves-first-ever-treatment-for-nf

Also see:

Interview with Brigitte Widemann, MD about Koselugo (selumetinib) the First FDA Approved Drug for NF (HERE)

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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.

https://www.nejm.org/doi/full/10.1056/NEJMoa1912735

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3/18/2020

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!

 

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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”

 

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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

 

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11/5/18

A record number of applications for the 2018 MDBR RASopathies Research Grant – Stay Tuned for the Winners!

 

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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.

 

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7/19/18

Global Genes interview with Lisa Schoyer

https://globalgenes.org/raredaily/rare-leader-lisa-schoyer-founder-and-president-of-rasopathies-network/

Thank you, Global Genes!

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Max Schill, 9, speaks at the March for Science in Washington, D.C.

4/14/18

click here  and scroll to 2:21:40 into the video

~Congratulations, Max, and thank you SO MUCH for all you’re doing for RASopathies and Rare Diseases!~

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A Brief video on Bruce Gelb and his interest in RASopathies research, particularly Noonan syndrome.

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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.

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Hi everyone, this is a blog that invites resources from families to share.  The first one is from Southern California, TASK

 

 

TECH Tidbits

Assistive Technology Newsletter

November 2017
Quick Links

 

More About TASK

 

More About the TECH Center
 

For more information, call TASK at (714) 533-8275.

 

For more workshops, including our workshops on special education and parental rights and responsibilities under the law, please visit theTASK website.
 Happy November!  Wonderful apps and a great website to help with social skills:

Windows Ease of Access Center Makes it Easier to Focus on Tasks
The Ease of Access Center includes a wide array of accessibility settings users can adjust to make controlling the computer easier. Its features include settings for people with low vision or blindness, hearing impairment or deafness, physical disabilities, and more. Read more from the North Dakota Assistive Technology website.

Premier for Google Chrome

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.
Apps:

 

You Are a Social Detective – Beginner App (for ages 7-12)

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.

 

Social Detective – Intermediate App

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.

 

Social Perspectives Taking

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.

 

I Know How You Feel

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.

 

Best Apps for Kids – Children’s Apps and Websites Reviewed, Rated and Ranked By Moms and Educators

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:

 
That’s all for this month. Happy Thanksgiving from the TASK family to your family.

 

Happy APPing!

 

Laura Simmons-Martinez

Assistive Technology Program Manager

TASK
TASK’s TECH Center is supported in part by Boardmaker,

a Tobii Dynavox Company.

 

 

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.