Prof. Kleefstra recruited to new hospital 

After almost 25 years of being affiliated with Radboud Medical Center, Professor Tjitske Kleefstra has been recruited to a new position at the largest hospital in The Netherlands. In March, she moved to Rotterdam to become head of the Department of Genetics at Erasmus Medical Center.

“This is a very ambitious and international oriented hospital with great doctors and researchers,” said Prof. Kleefstra. “It harbors the Sophia Children’s Hospital with many specialized pediatricians. Our department is positioned within the Sophia meaning I am closely in contact with other heads of pediatric departments. Therefore, I have more direct influence on the choices and possibilities in care and research of vulnerable children and their families.” 

Prof. Kleefstra will use the knowledge and skills she developed over the years teaching, conducting research and providing patient care at Radboud Medical Center in her new leadership role at Erasmus.

“Now, with all my experience I have an umbrella function, overarching the various fields including diagnostic, clinical and research activities, and facilitating, guiding and connecting. So, from being fully active with feet in the content, I am now using my experience to lead the department with the other great team members. I hope to inspire younger people to develop themselves into modern doctors and researchers.”

Do not fear, Prof. Kleefstra says she will keep active on Kleefstra Syndrome and EHMT1-related clinical and research activities.

 

 
 
 

 

Interested in participating in research?

COMBINEDBrain is traveling to a conference near you!  In one week, there is an opportunity outside of Philadelphia in Camden, NJ.

COMBINEDBrain is a non-profit consortium of more than 60 patient advocacy groups for rare, genetic neurodevelopmental disorders. It recognizes the need to collect patient samples for researchers to identify biomarkers to be used to treat/develop treatments for our children.

It is on a mission to collect ~500 samples from our member organizations over the next six to eight months, and IDefine is one of them.

Samples collected from our community will be stored and available to researchers across the world. Are you or one of your family members interested in participating in this exciting project for Kleefstra Syndrome? 

 

Southern Roots Reunion recap

The second annual Southern Roots: A BBQ Reunion was a lip-smacking, toe-tapping, heart-filling success as more than 1,300 people – including 15 Kleefstra Syndrome families – gathered for great food and fellowship in South Carolina.

More than 30 of the top chefs and pitmasters from around the country served up delicious barbecue while a rocking lineup of performers – including headliners Nashville Yacht Club Band – entertained attendees to raise money for IDefine and the battle against Kleefstra Syndrome.

“I am pleased beyond words with how the day went,” said Geoff Rhyne, IDefine CEO and creator of Southern Roots. “First off, I can’t thank our chefs enough. They voluntarily take time away from their restaurants and families on a Saturday to make Southern Roots what it is. And it is always so fulfilling for our Kleefstra Syndrome families to be able to gather and support each other. It’s a reminder that we’re not alone, we are a community.”

 
 
 
 
 
 
 
 

Quick Clips on Kleefstra: "Must Do's for Everyone"

  • KleefSTARS:  Want to have your loved one featured in our weekly KleefSTAR series?  Please just fill out the KleefSTAR submission form! 

  • Worldwide Map: Our community is growing every day, and understanding where in the world our community members are helps in furthering our mission.  Make sure you are counted!  Kleefstra Syndrome Worldwide Map  

  • IDefine Slack Channel:  Interested in further connecting with IDefine and the Kleefstra community?  Join our IDefine Slack Channel!

  • Data Drives Progress:  For a rare disease like Kleefstra Syndrome, there are a lot of unknowns.  BUT, your input and willingness to share your loved ones experience literally informs future care and studies.  To participate, we ask that you take the :30 minutes to join both RARE-X and AllStripes.  Help define a new future! 

  • Host a Fundraiser and Get Involved: We invite you to lean into our effort to build a brighter future for our loved ones.  Fundraising is fun and easy--let us help support you and your ideas!  It could be as simple as donating below or on the website, or as robust as building out an event that would be impactful in your community.  Together, we can do it!  If you are interested in helping us help your loved one who faces the challenges of Kleefstra Syndrome every day, please reach out today at unlock@idefine.org. 

 
 

IDefine, Inc
925B PEACHTREE STREET NE BOX 2173  | Atlanta, Georgia 30309
unlock@idefine.org

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