In this edition:

  • COMBINEDBrain brings together 30 patient advocacy groups
  • Eric Scheeff announced as Chief Scientific Officer (CSO)
  • 2nd Annual Kleefstra Syndrome International Family & Scientific Conference this week!
  • Plus a roundup of other KS-related news
 

In effort to fast track therapies, IDefine joins consortium

They say that two heads are better than one.

So, imagine the wealth of knowledge in COMBINEDBrain, the Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders. The nonprofit consortium brings together 30 patient advocacy groups to speed the path to clinical treatments for people with severe rare genetic, nonverbal neurodevelopmental disorders by pooling efforts, studies and data.

IDefine is pleased to announce it is COMBINEDBrain’s newest partner organization.

“We know it will take a village to accomplish our goals, so it is really exciting to join this community dedicated to fast-tracking cures and therapies for our rare genetic disorders,” said Geoff Rhyne, CEO of IDefine.

COMBINEDBrain, which represents more than 6,000 families with children with intellectual disabilities, is the brainchild of the mother of a child with a rare genetic disease. It launched in 2019 in Nashville.

 

Eric Scheeff Appointed Chief Scientific Officer for IDefine

We are thrilled to announce Eric Scheeff, PhD, has joined IDefine as our Chief Scientific Officer (CSO).  Eric brings with him into his role 20+ years of experience spanning molecular biology, bioinformatics, and genomics.  Eric is also the father of a child with Kleefstra Syndrome.  Until recently, Eric was the global Product Manager for Biological Interpretation at Illumina, the world leader in genomics and next-generation sequencing.

As IDefine has matured as an organization, and with the robust developments taking place in the rare disease space, it became critical to bring aboard an individual with the technical expertise to identify and accelerate discussions and projects.  In his own words, Eric states that he is excited at "the chance to leverage my background to make a difference, and in particular to help drive our community towards a treatment for Kleefstra Syndrome."

 

Kleefstra Syndrome Virtual Family +  Scientific Conference This Thursday!

We are excited to bring forward the 2nd annual Kleefstra Syndrome Family & Scientific Conference! This virtual conference seeks to bring Kleefstra Syndrome patients, our community of caretakers and organizers, doctors, and researchers to the table in the spirit of collaboration.

We are thrilled to have presentations from Dr. Tjitske Kleefstra and her team at Radboud, RIKEN Research Institute in Japan, RARE-X, AllStripes, and many others from across the world.

We are so grateful to the Kleefstra Syndrome Europe Alliance, The Translational Neuroscience Center at Boston Children’s Hospital, and Radboud University Medical Centre in helping us bring this conference to fruition.

Looking forward to "seeing" you there!

Register for the conference

 
 
 
 

Quick Clips on Kleefstra

  • North American Kleefstra Syndrome Family Conference: Registration is now open!  The conference will be held this June in Naperville, Il from June 23rd-25th.  Please register before May 1st!  Family Conference Registration

  • Rare Disease Day Wrap Up: We had great community participation on Rare Disease Day 2022!  A big thank you to Maggie from Aqua Love Studio for the wonderful zebras, and a special shout out to Julie Drake for all of her efforts!  Check out these pictures of our kids showing their stripes! Zebra Collage 1 and Zebra Collage 2

  • Stay in Touch: We are thrilled that you are reading our monthly newsletter!  Stay in tune with all the latest and greatest updates related to Kleefstra Syndrome and the IDefine community by following us on Facebook and Instagram.  Help us get to 1,000 followers!

  • KleefSTAR: Are you interested in seeing your loved one recognized for how amazing he/she is?  Please send in a photo along with 5 fun and/or interesting facts about your KleefSTAR!  Email us at the address below!

 
 

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

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