News

We have an extraordinary opportunity for you to be a hero for those who need your support the most. Become a TBRS GEM (Giver Every Month)! TBRS families are dealing with the unknown, facing multiple health and developmental issues at the same time, and urgently need your help.

By becoming a recurring donor, you have the chance to make a significant impact in the lives of those who face TBRS by funding crucial research, providing vital resources, and ultimately, improving their quality of life.Our dedicated community of scientists, clinicians, and families is motivated and brilliant, and we need your financial support to turn our shared aspirations into reality.

Join us today!
Over the course of a year:

$10 per month allows us to host our TBRS Social and Support Groups
$25 per month funds the collection of one patient sample to our biorepository
$50 per month can send a TBRS Cares Package to 12 families in crisis per year
$100 per month provides the resources to maintain our virtual programming, including live interpretation, so we can be an inclusive, fully supportive global community
$250 per month pays for our TBRS Patient Registry platform for a year, increasing our understanding of TBRS that will lead to crucial developments such as surveillance guidelines and treatment options
$500 per month can create an iPSC line, a valuable research tool based on patient cells to help with projects like testing potential medications for use in people with TBRS

As a TBRS GEM, you will be featured on our website and social media, have access to TBRS GEM exclusive member update meetings, and receive a 10% discount to any of our paid events.

We have a goal of 25 recurring donors. The first 25 to sign up at any level of giving will receive a special gift.

Become a TBRS GEM here: https://tbrscommunity-bloom.kindful.com/?campaign=1214409

In the rare disease world, community engagement and effective communication are essential, and Erin Rooker has truly excelled in these areas. Erin’s tireless efforts in crafting compelling messages and engaging content has been instrumental in bringing the TBRS community closer together. Her passion for marketing has breathed new life into our initiatives and campaigns.

But Erin is more than just a marketing guru. She’s a project manager extraordinaire. Time and time again, she’s proven her ability to juggle multiple tasks, manage projects seamlessly, and ensure that everything runs like a well-oiled machine. Her attention to detail and organizational skills are second to none, making our community run smoothly and effectively.

One of Erin’s most remarkable qualities is her unwavering commitment. She’s always there, available at the drop of a hat, ready to lend a helping hand, provide guidance, or simply offer her warm and encouraging words. Her dedication to the TBRS Community’s success is truly remarkable and inspiring.

What’s even more astonishing is that she manages all of this while holding down a full-time job and raising her beautiful daughter, Morgan. It’s a testament to her incredible work ethic, time management skills, and the immense love and care she pours into every aspect of her life.

Erin’s passion and dedication have not gone unnoticed. She has made a huge mark on the TBRS community. Thank you, Erin!

Dr. Diehl will lead the Community’s efforts to identify potential treatments for TBRS.

The TBRS Community is excited to announce the appointment of Eric Diehl, Ph.D., as Science Director. Diehl will accelerate efforts to develop therapeutic options for Tatton Brown Rahman Syndrome and encourage research efforts to align with our patient community’s highest priorities.

“Eric has extensive knowledge of epigenetics and has worked on DNMT3A, the gene that causes TBRS,” said Jill Kiernan, Founder and Executive Director of the TBRS Community. “He understands our sense of urgency to find patient-centered treatments and has a strong history of communicating complicated science to a lay audience. We are so excited to begin working with him.”

Diehl has worked in epigenetics research for more than 10 years. He completed his undergraduate and Ph.D. in Biology at the University of Western Ontario. His thesis involved identifying epigenetic changes in a mouse model of fetal alcohol spectrum disorders. He then completed a postdoctoral fellowship in the laboratory of Rosanna Weksberg at SickKids in Toronto. His work focused on the development of epigenetic signatures to aid in the diagnosis of neurodevelopmental disorders such as TBRS. Most recently, he completed Canadian College of Medical Genetics (CCMG) training to become certified as a diagnostic laboratory geneticist.

“I am thrilled to join this exceptional community and look forward to getting to know you all. I am excited to apply my knowledge and experience in epigenetic disorders to help facilitate connections and propel research in TBRS forward.”

“Eric has the rare combination of basic and applied genetics expertise, along with a passion for connecting with the patient community and finding ways to improve diagnosis and treatment for people with genetic conditions,” said Kerry Grens, Vice President of the TBRS Community. “Our organization is poised to push TBRS research toward translational studies, and I am excited Eric will help us get there.”

Diehl lives in his hometown of London, Ontario, Canada. He is the father of twin 8-year-old boys. Together they enjoy staying active by camping, hiking, and biking.