Upcoming Events
Quarterly SETBP1 Alliance Collaboration Call
Tuesday, December 10th at 9:30 am CST/10:30 am ET/4:30 pm Central European Time
The purpose of the quarterly SETBP1 calls is to enable researchers, specialists, scientists, and industry from around the world to share their research, their expertise, and collaborate with each other. The goal is to move research forward faster through collaboration.
Attendees for this collaboration call: Scientists, researchers, medical specialists, and SETBP1 foundation members!
Presentation title: What Can Zebra Finches Tell Us About SETBP1 and Vocal Production Learning?
Presenter: Ezequiel Mendoza, PhD
Researcher from Freie Universität Berlin
Presentation title: Exploring how specific mutations in the SETBP1 gene might affect how ATRX and other proteins control its activity
Presenter: Ian Weaver, PhD
Associate Professor at Dalhousie University
Past Events
SETBP1 Family and Research Conference
Our SETBP1 Conference will bring SETBP1 families, researchers and medical professionals to the beautiful, happening, and centrally situated within the US city of AUSTIN, TEXAS!
This will be your chance to visit and connect with other SETBP1 parents and caregivers, meet SETBP1 medical professionals, meet SETBP1 researcher, participate in SETBP1 research, learn about the most up-to-date findings, and hear about different strategies for dealing with prominent features of SETBP1-HD and related disorders!
Million Dollar Bike Ride
When: Saturday, June 8th, 2024
Where: Philadelphia, PA
You can ride in-person or virtually so you can show your support and ride anywhere you choose.
NOTE: 100% of fundraising will go towards SETBP1 research (for SETBP1 haploinsufficiency disorder and Schinzel-Giedion Syndrome)!
Quarterly SETBP1 Alliance Collaboration Call
Thursday, May 30th at 9:00 am CST/10:00 am ET/3:00 pm UK time
The purpose of the quarterly SETBP1 calls is to enable researchers, specialists, scientists, and industry from around the world to share their research, their expertise, and collaborate with each other. The goal is to move research forward faster through collaboration.
Attendees for this collaboration call: Scientists, researchers, medical specialists, and SETBP1 foundation members!
Presentation title: Behavioural Modelling of SETBP1-HD in Larval Zebrafish
Presenter: Katherine Ullrich
Research Assistant in the Little Lab at McMaster University
Presentation title: Investigating SETBP1 haploinsufficiency disorder (SETBP1-HD) in zebrafish muscle through a genetic loss of function model
Presenter: Nabiha Rahman
Research Assistant in the Little Lab at McMaster University
Quarterly SETBP1 Alliance Collaboration Call
Monday, March 25th at 10:00 am CST/11:00 am ET/3:00 pm UK time
The purpose of the quarterly SETBP1 calls is to enable researchers, specialists, scientists, and industry from around the world to share their research, their expertise, and collaborate with each other. The goal is to move research forward faster through collaboration.
Attendees for this collaboration call: Scientists, researchers, medical specialists, and SETBP1 foundation members!
Presentation title: Linking SETBP1-HD EEG Biomarkers to Clinical Profiles
Presenter: Caitlin Hudac, PhD
Associate Professor at University of South Carolina
Quarterly SETBP1 Alliance Collaboration Call
Tuesday, December 5th at 6:00 am CST/7:00 am ET/12:00 pm UK time
The purpose of the quarterly SETBP1 calls is to enable researchers, specialists, scientists, and industry from around the world to share their research, their expertise, and collaborate with each other. The goal is to move research forward faster through collaboration.
Attendees for this collaboration call: Scientists, researchers, medical specialists, and SETBP1 foundation members!
Presentation title: The landscape of SETBP1 gene expression and transcription factor activity across human tissues
Presenter: Jordan Whitlock, PhD
Research Assistant in Lasseigne Lab from the University of Alabama Birmingham School of Medicine
Presentation title: Modeling SETBP1-HD using CRISPR/Cas9 gene editing in iPSCs
Presenter: Nicole Shaw, PhD
Research Officer in Fear Lab at Telethon Kids Institute in Perth
SETBP1 Family Connect – Virtual Party
We invite our SETBP1 families to join virtually to share about their kids, get to know one another, and celebrate Rare Disease Day, which is the following day. We hope to see you there!
For SETBP1 parents and caregivers only!
SCoReS: SETBP1 Behaviors & Characteristics Study Webinar
Tuesday, November 7th at 7:30 pm CDT/8:30 pm EDT
The new SETBP1 research study launched this month! This study focuses on learning more about the unique characteristics and behaviors of our SETBP1 children and young adults. Watch the recorded webinar to learn more about the study. Watch the webinar!
Quarterly SETBP1 Alliance Collaboration Call
Thursday, September 14th at 10:30 am CST/11:30 pm ET/4:30 pm UK time
The purpose of the quarterly SETBP1 calls is to enable researchers, specialists, scientists, and industry from around the world to share their research, their expertise, and collaborate with each other. The goal is to move research forward faster through collaboration.
Attendees for this collaboration call: Scientists, researchers, medical specialists, and SETBP1 foundation members!
Million Dollar Bike Ride – SETBP1Strong Team Rides Again
Saturday, June 10th at 7:30am ET in Philadelphia, PA
SETBP1 Society was invited by the University of Pennsylvania Orphan Disease Center to participate in the Million Dollar Bike Ride (MDBR) for the 5th year in a row! The bike ride was created to raise money for research in rare diseases, including SETBP1 haploinsufficiency disorder. 100% of fundraising money will go towards SETBP1 research! Not only that, but the Orphan Disease Center will match up to $30,000 that is raised on behalf of our SETBP1Strong team! Last year, we raised $91,664 for SETBP1 haploinsufficiency disorder research. Check out the researcher projects we funded through MDBR funds.
Quarterly SETBP1 Alliance Collaboration Call
Friday, May 12th at 9:00 am CST/10:00 pm ET/3:00 pm UK time
The purpose of the quarterly SETBP1 calls is to enable researchers, specialists, scientists, and industry from around the world to share their research, their expertise, and collaborate with each other. The goal is to move research forward faster through collaboration.
Attendees for this collaboration call: Scientists, researchers, medical specialists, and SETBP1 foundation members!
Presentation title: Findings from the FDA-funded “Expanding the ORCA (Observer-Reported Communication Ability)” study for the SETBP1-HD and SGS participants
Presenter: Christina Zigler, PhD
Duke University School of Medicine
Quarterly SETBP1 Alliance Collaboration Call
Monday, March 6th at 9:30 am CST/10:30 pm ET/3:30 pm UK time
The purpose of the quarterly SETBP1 calls is to enable researchers, specialists, scientists, and industry from around the world to share their research, their expertise, and collaborate with each other. The goal is to move research forward faster through collaboration.
Attendees for this collaboration call: Scientists, researchers, medical specialists, and SETBP1 foundation members!
Presenter: Barbara Bailus, PhD
Keck Graduate Institute
SETBP1 Family In-Person Meetup
Where: Klyde Warren Park in Dallas, TX – (https://www.klydewarrenpark.org/). It is a 5.2 acre park with food trucks, play equipment, tables for gathering, open space to play, and space for us to bring some additional games/toys for those that might want to play. We will first meetup in the Sheila and Jody Grant Children’s Park area. Be on the lookout for a small SETBP1 Society sign or reach out to Haley Oyler, the SETBP1 Society president, directly on Facebook, her cell, or the SETBP1 Society contact phone number if you have questions or have trouble locating us. Representatives from Tarleton State University will also be present to provide additional fun for our kids.
Parking Options: Park Fast – 1821 N. Pearl Street Dallas, TX 75201 – $10 for 12 hours – 1 minute walk
Parking Garage at 2000 McKinney Ave, Dallas, TX 75201 – Daily Rate is $10 – 2 minute walk
Street Parking which will be metered parking
Dart Rail Station – park and ride the rail in if you don’t want to mess with parking. (https://dart.org/guide/transit-and-use/rail – children under 5 ride free and older children are the reduced price)
For those wanting to continue with the fun, we are heading over to the Dallas Zoo at 650 S R.L. Thornton Fwy, Dallas, TX 75203 from about 2pm-4pm.
2022
Giving Tuesday
Tuesday, November 29th, 2022 is global giving day, also known as Giving Tuesday! One Day Defined By Generosity. For most of us, Black Friday and Cyber Monday are the ‘unofficial’ start to the holiday shopping season. This year, let’s make Giving Tuesday the official start of the giving season by helping us meet our goal of $25,000. By donating to SETBP1 Society, you are directly contributing to our ability to fund needed research to help SETBP1 families.
Quarterly SETBP1 Alliance Collaboration Call
Thursday, November 10th at 10:00 am CST/11:00 pm ET/4:00 pm UK time
The purpose of the quarterly SETBP1 calls is to enable researchers, specialists, scientists, and industry from around the world to share their research, their expertise, and collaborate with each other. The goal is to move research forward faster through collaboration.
Attendees for this collaboration call: Scientists, researchers, medical specialists, and SETBP1 foundation members!
Presentation title: Effects of canonical germline SETBP1 point mutations on single peripheral blood cell transcriptomes
Presenter: Sam Behjati, PhD, MD
Wellcome Sanger Institute
Mini-Presentations:
–Dr Alex Little McMaster University (SETBP1-HD zebrafish update)
–Dr Audrey Brumback UT (SETBP1-HD mouse model neuromodulation of prefrontal circuits update)
–Dr Jerome Baudry UAH (Structure-based drug discovery approach update)
RARE-X Launch Party for the SETBP1 community
Party with your SETBP1 community while supporting SETBP1 research at SETBP1 Society’s RARE-X Launch Party! Grab a seat, a beverage and a snack and we’ll all register together and a RARE-X representative will be present to answer questions. Joining the SETBP1 Data Collection Program hosted by RARE-X is one way we can help accelerate that path toward better treatments for SETBP1-HD and related disorders. For SETBP1 parents and caregivers only!
SETBP1 Family Connect – Conference Sharing & Meet the Kids
Join us for a virtual meetup with fellow SETBP1 families. Families will share highlights from our recent conference in Baltimore. We will also share about an upcoming research opportunity with RARE-X. Any kiddos who would like to join at the beginning of the call are welcome to say “Hi”. We would love to meet them too! It will be a great opportunity to meet and share with other kids and families affected by SETBP1-HD. We hope to see you there!
For SETBP1 parents and caregivers only!
2022 Simons Searchlight and SETBP1 Family and Research Conference
Location: Baltimore, Maryland
We are happy to have you attend the Simons Searchlight 2022 Family & Research Conference! This event is taking place August 4th to 7th in Baltimore, Maryland at the Hyatt Regency Baltimore Inner Harbor.
The conference is hosted by Simons Searchlight in partnership with the SETBP1 Society, CSNK2A1 Foundation, Hope for HIVEP2, and MED13L Foundation and will include gene-specific sessions for each genetic community, general sessions topics for everyone, research study opportunities, SETBP1 family networking time, special activities for children and families, SETBP1 medical specialist and researcher networking time and much more!
There is a virtual option for those who are unable to attend in-person.
Learn more about the conference at https://www.setbp1.org/2022-setbp1-conference/
Million Dollar Bike Ride – SETBP1Strong Team Rides Again
Saturday, June 11th at 7:30am ET in Philadelphia, PA
SETBP1 Society was invited by the University of Pennsylvania Orphan Disease Center to participate in the Million Dollar Bike Ride (MDBR) for the 4th year in a row! The bike ride was created to raise money for research in rare diseases, including SETBP1 haploinsufficiency disorder. 100% of registration and fundraising money will go towards SETBP1 research! Not only that, but the Orphan Disease Center will match up to $30,000 that is raised on behalf of our SETBP1Strong team! Last year, we raised $91,466 for SETBP1 haploinsufficiency disorder research. Check out the researcher projects we funded through MDBR funds.
It Takes a Village – 5th thru 12th Grade IEPs
Saturday, June 4th at 1:00pm EDT / 6:00pm UK time
SETBP1 Society, IDefine and Koolen-de Vries Syndrome (KdVS) Foundation are excited to form a partnership called “It Takes a Village”. Through this partnership, our wonderful communities will have the chance to share resources and join informative webinars that apply to our rare communities.
This webinar is for families with children in 5th grade through 12th grade. Join KdVS Foundation’s Kaci Fisher as she speaks with two experts in Individualized Education Plans (IEP) for middle and high school age children. One of the experts is also a sibling of an adult with SETBP1-HD.
Expanding the ORCA Measure
Monday, May 23rd at 2:30pm EDT / 7:30pm UK time
EXPANDING THE OBSERVER-REPORTED COMMUNICATION ABILITY (ORCA) MEASURE: MEASURING THE COMMUNICATION ABILITY OF INDIVIDUALS WITH RARE, NEURODEVELOPMENTAL DISORDERS SETBP1 Society is excited to be participating in the Expanded ORCA (E-ORCA) study! The original ORCA Measure is a questionnaire that assesses the communication ability of individuals with Angelman Syndrome, a neurodevelopmental disorder that significantly impacts verbal speech.
The intended use of the ORCA measure is to assess an individual’s baseline communication ability level and subsequent changes in communication ability over time in a research study. Now with a grant from the U.S. Food and Drug Administration (FDA), Dr. Christy Zigler (Principal Investigator) and other investigators will work with COMBINEDBrain, a patient advocacy consortium, to expand the ORCA measure to a range of neurodevelopmental disorders including SETBP1 haploinsufficiency disorder and SETBP1-related disorder.
It Takes a Village – IEPs PreK thru 4th Grade
Saturday, May 7th at 2:00pm EDT / 7:00pm UK time
SETBP1 Society, IDefine and Koolen-de Vries Syndrome (KdVS) Foundation are excited to form a partnership called “It Takes a Village”. Through this partnership, our wonderful communities will have the chance to share resources and join informative webinars that apply to our rare communities.
The first webinar is for families with children in PreK thru 4th grade. Join KdVS Community’s Kaci Fisher as she speaks with Kelly Rhyne (IDefine), an expert in Individualized Education Plans (IEP) for young school age children. Q&A is offered and encouraged.
Quarterly SETBP1 Alliance Collaboration Call
Tuesday, May 3rd at 5:30 am CST/6:30 pm ET/11:30 am UK time
The purpose of the quarterly SETBP1 calls is to enable researchers, specialists, scientists, and industry from around the world to share their research, their expertise, and collaborate with each other. The goal is to move research forward faster through collaboration.
Attendees for this collaboration call: Scientists, researchers, medical specialists, and SETBP1 foundation members!
SETBP1 Family Connect – Behavioral Challenges
Which of your child’s behaviors or challenges are causing the most difficulty for your family currently and how are you managing them? Pediatrician and SETBP1 mom, Erin Otness, will lead a discussion where we can learn from and support each other. Come prepared with questions to share, or just come and listen!
For SETBP1 parents and caregivers only!
Join Us For A SETBP1 Data Collection Program Webinar
Saturday, March 5th 12pm CST / Saturday, March 5th 1pm EST / Saturday, March 5th 6pm UK time (Sunday, March 5th 5am Melbourne time)
The SETBP1 community is partnering with RARE-X, a 501(c)(3) nonprofit, to build a Data Collection Program for our families. When you participate in the SETBP1 Data Collection Program, you’ll help accelerate research and the development of new drugs, devices, and other therapies. The SETBP1 Data Collection Program will be patient-owned but enabled by RARE-X technology. All data governance, consent support, and data security will be put in place by RARE-X. SETBP1 families will benefit from a streamlined process for collecting research-ready data in a phased approach. The presentation will last for up to 1 hour and begin at 1:00pm US Eastern Time / 6:00pm Greenwich Mean Time. We hope to see you online with us!!
Invited attendees: SETBP1 parents and caregivers
Quarterly SETBP1 Alliance Collaboration Call
Monday, February 28th at 9:00 am CST/10:00 pm ET/3:00 pm UK time
The purpose of the quarterly SETBP1 calls is to enable researchers, specialists, scientists, and industry from around the world to share their research, their expertise, and collaborate with each other. The goal is to move research forward faster through collaboration.
Attendees for this collaboration call: Scientists, researchers, medical specialists, and SETBP1 foundation members!
Your SETBP1-HD Speech and Language Questions Answered & Updates from SETBP1-HD Speech Tracker Study
Tuesday, February 15th 3pm CST / Tuesday, February 15th 4pm EST / Tuesday, February 15th 9pm UK time (Wednesday, February 16th 8am Melbourne time)
Join speech pathologist, Angela Morgan, and her research assistant, Olivia Van Reyk, from the Murdoch Children’s Research Institute as they answer speech and language questions from the SETBP1-HD community and share about their latest SETBP1-HD speech and language study, Speech Tracker. This is a unique opportunity to hear from and connect with one of our prominent SETBP1-HD researchers. You can learn more about the SETBP1-HD Speech Tracker study at https://setbp1.org/speechtracker. If you have already started the study but have not completed it, now is a good time to take a few minutes to complete it.
Invited attendees: SETBP1 parents and community
Request access to the presentation
2021
2021 GIVING TUESDAY SETBP1 RESEARCH FUNDRAISER
One Day Defined By Generosity. For most of us, Black Friday and Cyber Monday are the ‘unofficial’ start to the holiday shopping season. This year, let’s make Giving Tuesday the official start of the giving season by helping us meet our goal of $25,000.
Quarterly SETBP1 Collaboration Call
Monday, November 15th at 9:00 am CST/10:00 pm ET/3:00 pm UK time
The purpose of the quarterly SETBP1 calls is to enable researchers, specialists, scientists, and industry from around the world to share their research, their expertise, and collaborate with each other. The goal is to move research forward faster through collaboration.
Attendees for this collaboration call: Scientists, researchers, medical specialists, and SETBP1 foundation members!
Simons Searchlight SETBP1 Family and Research Conference (VIRTUAL)
Simons Searchlight in collaboration with the SETBP1, CSNK2A1, HIVEP2, and MED13L communities is excited to announce plans to host a virtual family conference again this year.
Friday, July 30 | 1:00 to 4:00 PM ET
GENERAL SESSION DAY 1: SCIENCE & MEDICAL
Friday, August 6 | 1:00 to 4:00 PM ET
GENERAL SESSION DAY 2: SERVICES & THERAPIES
SETBP1
Sunday, August 8 | 2:00 to 5:15 PM ET
(SETBP1 families, researchers, and clinicians only)
SETBP1 SCIENTIFIC MEETING (VIRTUAL)
Thursday, May 20th 3pm-6pm ET
Simons Searchlight is hosting our 2nd SETBP1 Scientific Meeting! Agenda will follow soon!
Million Dollar Bike Ride – SETBP1Strong Team Rides Again
Saturday, June 12th at 10:00am CST/11:00 am ET/3:00 pm GMT (Virtual Ride)
SETBP1 Society was invited by the University of Pennsylvania Orphan Disease Center to participate in the Million Dollar Bike Ride (MDBR) again this year! The bike ride was created to raise money for research in rare diseases, including SETBP1 disorder. 100% of registration and fundraising money will go towards SETBP1 research! Not only that, but the Orphan Disease Center will match up to $30,000 that is raised on behalf of our SETBP1Strong team! Last year, we raised $80,746 for SETBP1 disorder research. Check out the researcher projects we funded through MDBR funds.
Quarterly SETBP1 Collaboration Call
Thursday, March 25th at 1:00 pm CST/2:00 pm ET/6:00 pm GMT
The purpose of the quarterly SETBP1 calls is to enable researchers, specialists, scientists, and industry from around the world to share their research, their expertise, and collaborate with each other. The goal is to move research forward faster through collaboration.
Attendees: Scientists, researchers, industry, medical specialists, SETBP1 community members, therapists, medical professionals and school staff!
Presentation title: Neuromodulation of prefrontal circuits in a mouse model of SETBP1 disorder
Presenter: Audrey Brumback, MD, PhD
The University of Texas at Austin
Presentation title: A parent’s perspective: Living with a young child with SETBP1 disorder
Presenter: Lindsey Noonan
Mom of a 22 month old with SETBP1 disorder
2020
Quarterly SETBP1 Collaboration Call
Thursday, December 10th at 11:00 am CST/12:00 pm ET/5:00 pm GMT
The purpose of the quarterly SETBP1 calls is to enable researchers, specialists, scientists, and industry from around the world to share their research, their expertise, and collaborate with each other. The goal is to move research forward faster through collaboration.
Attendees: Scientists, researchers, industry, medical specialists, SETBP1 community members, therapists, medical professionals and school staff!
Presentation title: Paving the way to novel treatments of SETBP1-associated neurodevelopmental disorders using human-induced pluripotent stem cell derived neuronal disease models
Presenter: Sarah Dugger, PhD
Introduction By: Erin Heinzen, PhD
UNC Catalyst for Rare Disease at UNC Eshelman School of Pharmacy
Study Introduction: Toward structure-based drug discovery for SETBP1 disorder & Schinzel-Giedion Syndrome
Presenter: Jerome Baudry, PhD
Chan Chair and Professor, the University of Alabama in Huntsville
Project Member: Maher Mansur
PhD student working in Dr Baudry’s Lab
2020 GIVING TUESDAY SETBP1 RESEARCH FUNDRAISER
One Day Defined By Generosity. For most of us, Black Friday and Cyber Monday are the ‘unofficial’ start to the holiday shopping season. This year, let’s make Giving Tuesday the official start of the giving season by helping us meet our goal of $25,000. By donating to SETBP1 Society, you are directly contributing to our ability to fund needed research to help SETBP1 families.
SETBP1 Family Presentation
Saturday, November 7th at 1:30pm CST/2:30 pm ET/7:30 pm GMT
This presentation is open to all SETBP1 families. A Q&A session will follow the presentation.
Presentation title: Speech and Language Abilities in Children with SETBP1 Disorder
Presenter: Angela Morgan, PhD
Speech and Language group at the Murdoch Children’s Research Institute
For families who do not speak English, we will make the presentation video available on request with the captions available in multiple languages. The video will be provided within 1-2 weeks after the presentation.
Virtual Simons Searchlight SETBP1 Family and Research Conference
Simons Searchlight in collaboration with the SETBP1, CSNK2A1, HIVEP2, and MED13L communities is excited to announce plans to host a virtual family conference. Although the in-person 2020 meeting had to be postponed, we’re committed to bringing the communities together to share information this year.
Registration for the Simons Searchlight 2020 Virtual Conference is now open!
Please register for each of the virtual meeting sessions that you would like to attend by clicking the hyperlinks below. All presentations will include time for a live Q&A and will be recorded.
General Session 1, August 7: https://bit.ly/3j9iYls
SETBP1 Meeting & Family Chat, August 9: https://bit.ly/2Wl9I47
General Session 2, August 14: https://bit.ly/3fCqrr1
SETBP1 Families
VIRTUAL CONFERENCE AGENDA
Simons Searchlight Family and Research Conference
General Session 1
Friday, August 7
2:00 PM – 4:00 PM Eastern Time
Register for this session: https://bit.ly/3j9iYls
- Introduction by Wendy Chung, MD, PhD
- Challenging Behaviors by Karen Bearss, PhD
- Genetics 101 & How to read your lab report by Julian Savatt, MS, LGC & Rebecca Sheedy, LGC
SETBP1 Meeting
Sunday, August 9
4:00 PM – 6:00 PM Eastern Time
Register for this session: https://bit.ly/2Wl9I47
- Simons Searchlight SETBP1 Registry Results by Jennifer Bain, MD, PhD
- Navigating the Challenges of ADHD in SETBP1 Disorder by Siddharth (Sid) Srivastava, MD
- SETBP1 Society Update by Haley Oyler
6:00 PM – 7:00 PM Eastern Time
SETBP1 Family Chat – Families will stay on the line after the SETBP1 Meeting ends to connect and share. This portion will not be recorded.
General Session 2
Friday, August 14th
2:00 PM – 4:00 PM Eastern Time
Register for this session: https://bit.ly/3fCqrr1
-
- Introduction by John Spiro, PhD
- What is Simons Searchlight by Misia Kowanda, MSc, CGC & LeeAnne Green Snyder, PhD/
- Introduction to SFARI Science by John Spiro, PhD
- iPSCs by Julia Sommer, PhD
- Animal Models by Alice Luo Clayton, PhD& Britter Gundersen, PhD
- Gene Therapies by Wendy Chung, MD, PhD
- Clinical Trials by Paul Wang, PhD
View the Flyer
If you are unable to attend some of the sessions, please note that they will be recorded and available for viewing at a later date. Also, for our non-native English speakers, Simons Searchlight plans to have the recordings translated into French, Dutch, and Spanish. We will also obtain copies of the English captions and English transcripts and work to translate those into other requested languages, as well.
Million Dollar Bike Ride Fundraiser
Saturday June 13th, 2020 in your hometown (virtual ride)!
SETBP1 Society was invited by the University of Pennsylvania Orphan Disease Center to participate in the Million Dollar Bike Ride again this year! The bike ride was created to raise money for research in rare diseases, including SETBP1 disorder. 100% of registration and fundraising money will go towards SETBP1 research! Not only that, but the Orphan Disease Center will match up to $30,000 that is raised on behalf of our SETBP1 Strong team!
Quarterly SETBP1 Collaboration Call
Tuesday, February 25th at 1:00 pm CST/2:00 pm ET/7:00 pm GMT
The purpose of the quarterly SETBP1 calls is to enable researchers, specialists, scientists, and industry from around the world to share their research, their expertise, and collaborate with each other. The goal is to move research forward faster through collaboration.
Attendees: Scientists, researchers, industry, medical specialists, SETBP1 community members, therapists, medical professionals and school staff!
This quarter’s presentation was from the genetics group at McGill University.
Presentation title: Studying SETBP1 disorder as an AKT modifier in human neurons.
Presenters: Carl Ernst, PhD and Lilit Antonyan, MSc
Psychiatric Genetics Group, McGill University
2019
2019 Giving Tuesday SETBP1 Research Fundraiser
Tuesday, December 3rd, 2019 is global giving day, also known as Giving Tuesday!
This Giving Tuesday, we are raising funds to take our mouse to the next level. You heard right, we are leveling up our SETBP1 disorder mouse model! We need to dive deeper into understanding the SETBP1 disorder mouse model and what impact loss of SETBP1 protein has on the mouse. We also plan to take the mouse to the next level by understanding what happens when SETBP1 protein is restored at various stages of the mouse’s life. There are no treatments for individuals living with the life-impacting genetic neurodevelopmental disorder, SETBP1. We have generous SETBP1 supporters matching $5,000 dollar for dollar for donations made to SETBP1 Society starting on Giving Tuesday!! Facebook is also matching up to a total of $7 million dollars in donations on Facebook. Make a donation or create a fundaiser on December 3rd to help us reach our $25K goal to help fund SETBP1 disorder research to ultimately improve the lives of individuals living with SETBP1 disorder. Learn more about our Giving Tuesday campaign.
Find out how to Create your own Giving Tuesday Facebook Fundraiser.
Quarterly SETBP1 Collaboration Call
October 16, 2019 12:00pm CST/1:00pm ET/6:00pm UK
The purpose of the quarterly SETBP1 calls is to enable researchers, specialists, scientists, and industry from around the world to share their research, their expertise, and collaborate with each other. The goal is to move research forward faster through collaboration.
Attendees: Scientists, researchers, industry, medical specialists, SETBP1 community members
Format: 1 hour call with preferably 2 presentations on topics relevant to advancing SETBP1 research. Attendees can ask questions directly to the presenters following the presentations.
Presenters:
Angela Morgan, PhD
NHMRC Practitioner Fellow, Speech and Language group | Murdoch Children’s Research Institute
Findings from her ongoing SETBP1 Speech and Language Study
Simon E. Fisher, DPhil and Maggie Wong, DPhil
Language and Genetics Department | Max Planck Institute for Psycholinguistics
Studying SETBP1 disorder using human cell-culture models
Million Dollar Bike Ride
June 8, 2019
SETBP1 Society and the University of Pennsylvania Orphan Disease Center invite you to participate in the Million Dollar Bike Ride on Saturday, June 8, 2019 to raise money for research in rare diseases, including SETBP1 disorder. 100% of registration and fundraising money will go towards SETBP1 research! Not only that, but the Orphan Disease Center will match up to $30,000 that is raised on behalf of our SETBP1 Strong team! Learn more by visiting our Million Dollar Bike Ride page.
We will also hold a family meetup around this event for all those SETBP1 families that plan to attend. More details to come soon!
Set up your Giving/Fundraising Page – Click Here for instructions!
View our SETBP1 Strong Team page!
SETBP1 Virtual Family Conference – 2019
January 19, 2019 from 2:00pm-4:00pm EST/7:00pm-9:00pm GMT
This upcoming conference is hosted in partnership with Simons VIP Connect. Our presenters include Dr Wendy Chung, the Director of Clinical Research at SFARI at the Simons Foundation and the principal investigator of Simons VIP, Nancy R. Kaufman, MA, CCC-SLP, a renowned speech-language pathologist and the owner/director of the Kaufman Children’s Center, Dr Angela Morgan, a professor at the University of Melbourne and Murdoch Childrens Research Institute with expertise in working with children with speech and language disorders associated with rare genetic conditions, and Haley Oyler, president of SETBP1 Society.
Anyone interested in SETBP1 research are invited to attend. This gives attendees the opportunity to hear the latest research on individuals with a suspected loss-of-function SETBP1 mutation (SETBP1 disorder). SETBP1 families also get the opportunity to continue the conversation after the presentations.
2018 GivingTuesday SETBP1 Research Online Fundraiser
Tuesday, November 27th, 2018 is global giving day, also known as GivingTuesday!
This year we are fundraising to help fund a SETBP1 disorder mouse model to help characterize the impact of SETBP1 disorder and to gain an understanding of what SETBP1 does for the body. There are no treatments for individuals living with the life-impacting genetic neurodevelopmental disorder, SETBP1. Facebook and PayPal are matching up to a total of $7 million dollars in donations on Facebook. Make a donation or create a fundaiser on November 27th to help us reach our $15K goal to help fund SETBP1 disorder research to improve the lives of individuals living with SETBP1 disorder. Create a Fundraiser at here.
RARE Carousel of Possible Dreams Fundraiser
WHEN: Started February 1st, runs through February 28, 2018 World RARE Disease Day and culminates on Saturday, March 3rd.
WHERE: Join us at The Carousel at 12103 Conrad Rd, Austin, TX from 10am-12pm. Virtual participation is welcome .
WHAT: Come ride the Carousel for SETBP1 disorder! All donors get a free ride on the Carousel! Tickets for rides on the Carousel and other fun activities are $5 at the event. Bring your friends and family, take photos, enjoy food and beverages and help spread awareness of the rare neurodevelopmental disorder, SETBP1 disorder!
The RARE Carousel is a unique partnership between Festival of the Children Foundation and Global Genes that provides an exciting and innovative way for SETBP1 Society to raise funds, cultivate new donors, and increase awareness. We are fundraising to promote SETBP1 disorder Research!
2018
SETBP1 Virtual Family Conference – 2018
January 13, 2018 from 2:00pm-4:00pm EST/7:00pm-9:00pm GMT
This conference was hosted in partnership with Simons VIP Connect and Boston Children’s specialist Dr. Siddhardth Srivastava.
Watch the video of the presentations.
All families with a child with a SETBP1 mutation are invited to attend. This gives attendees the opportunity to hear the latest research on individuals with a suspected loss-of-function SETBP1 mutation (SETBP1 disorder). Send an email to info@setbp1.org if interested in learning more about the conference.