17 Mile Point
Posted by NR2F1 Foundation | November 2, 2022
NR2F1 Foundation Chicago Marathon Fundraising Results

On October 9, 2022, the 2022 Bank of America Chicago Marathon took place, with Tim Coughlin and his best friend Chris Schastok, running to raise funds for the NR2F1 Foundation....

Rare Diseases
Posted by NR2F1 Foundation | October 11, 2022
2022 Report on Rare Disease Genetic Testing

NORD (National Organization for Rare Disorders), is a 501(c)(3) organization dedicated to individuals with rare diseases and the organizations that serve them. With over 300 patient organization members, NORD is...

Darragh and Michael
Posted by NR2F1 Foundation | October 5, 2022
Irish Para-Athlete Diagnosed with BBSOAS

Darragh Andrews is a 24-year-old para-athlete who lives in Belfast, Northern Ireland in the United Kingdom. Para-athletics is the sport of athletics practiced by people with a disability as a...

Bank of America Chicago Marathon
Posted by NR2F1 Foundation | August 23, 2022
Chicago Marathon Fundraiser for NR2F1 Foundation Research

Edith In March of 2020, 12 months-old Edith received the diagnosis of having BBSOAS, also known as Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. It is one of the rarest neurological disorders in...

The Coughlins
Posted by NR2F1 Foundation | August 9, 2022
Edith: One Family’s Story with BBSOAS

This was sent to us by Jennifer, mother of 17-month-old Edith, who was recently diagnosed with BBSOAS. Jennifer and her husband Tim also have an older daughter Alice, who is...

grant winner
Posted by NR2F1 Foundation | July 7, 2022
NR2F1 Foundation Receives Matching Grant

The NR2F1 Foundation is the recent recipient of a $17,000 grant that will go towards researching the mechanisms of how BBSOAS works. The funding will be used for studies using...

Posted by NR2F1 Foundation | June 8, 2022
NR2F1 Foundation Welcomes Five New Members to the Board of Directors

NR2F1 Foundation is excited to announce that we have voted in five new members to our board of directors! This will increase the number of board members from six up...

NR2F1 Conference
Posted by NR2F1 Foundation | May 9, 2022
NR2F1 Scientific Conference for Families Was a Success!

The 2022 NR2F1 Family and Scientific Conference was held this year in Orlando, FL, on April 6 – 8. It was attended in-person and virtually by families from around the...

REN
Posted by NR2F1 Foundation | April 8, 2022
NR2F1 Foundation is a New Member of the Rare Epilepsy Network

The NR2F1 Foundation has joined the Rare Epilepsy Network, a collaborative effort of rare epilepsies. Because over 50% of individuals with BBSOAS are also diagnosed with epilepsy, being part of...

at the top it says BBSOAS Grandparent Support Group. in the middle are 3 images of grandparents with their BBSOAS grandchild. under the pictures it says Talk with other BBSOAS grandparents to share ideas, resources and support. Contact Donna at d o r l i n e r at c o m c a s t dot n e t
Posted by NR2F1 Foundation | November 18, 2021
BBSOAS Grandparent Support Group
Text says Meet Zeb. Zeb is diagnosed with BBSOAS. Watch the exclusive and first time interview with Carlie President of the NR2F1 Foundation. in the middle is an up close picture of Zeb a young man, wearing a pink t-shirt and holding a mug in his hand and smiling at the viewer
Posted by NR2F1 Foundation | November 18, 2021
Meet Zeb! An exclusive interview

Click the image to watch the video.   Meet Zeb from the Netherlands, a young man who lives with a very rare NR2F1 disease caused by a NR2F1 gene variant,...

Image contains 5 graphics depicting 5 countries including France, the U.K., the U.S.A, Germany and the Netherlands. in the center is a graphic of 5 hands reaching towards each other touching fingers in a circle
Posted by NR2F1 Foundation | November 18, 2021
2021 BBSOAS Research Update

October marked the first BBSOAS collaborative research meeting with Michele Studer (France), Patrick Yu Wai Man (England), Danielle Bosch and Ninke Boonstra (Netherlands), Veeral Shah, Jane Edmond, Nilesh Desai, Sophia...

a young boy wearing a grey sweatshirt is sitting on a couch with his head turned to the viewer and smiling
Posted by NR2F1 Foundation | November 18, 2021
Meet Simon from Chile!

Mom, Cecilia shares with us all about Simon. Cuantos años tiene Simón, y cómo  escogieron su nombre? How old is Simón and how did you choose his name? Simón tiene 4 años...