IDefine invests in developing stem cell line models

Last month, on Kleefstra Syndrome Awareness Day, IDefine announced it had signed a contract to develop iPSC’s – stem cell line models that have been created with Kleefstra Syndrome – that can be used to test potential therapeutics. The investment, coupled with existing mice models, will provide information critical to determining effectiveness and safety issues prior to going into human clinical trials.

One line is being made with cells provided by a member of the KS community, a second line is being provided by a parent of that person with KS (as a control), and a second KS line is being created using CRISPR, a gene editing tool.

“CRISPR lets you make very precise modifications to cell lines,” said IDefine Chief Science Officer Eric Scheeff. “What we're going to do is put the exact same mutation that the KS patient has into the parent’s cells. That's called an isogenic line. What that means is the control line has only one change in it, and it’s the mutation to EHMT1. So now you have a control line and a disease model line that are completely genetically identical, except for that one change.

“It's very helpful for experiments because if you see a difference between the parent’s line and the CRISPR line in an experiment, it's very likely it’s because of the mutation in EHMT1. Then we also have the real-world KS patient line. We can use all those lines together in experiments and show how they are behaving. It's a very powerful way to be able to compare your data when you're doing experiments.”


A framework for evaluating neurodevelopmental disorders for gene therapy

With more than 1,000 genetic causes of intellectual disability and autism alone, which neurodevelopmental disorders which should researchers try to tackle with gene therapy, and what are the necessary steps to make that determination? Through its partnerships with the rare disease community – including IDefine – researchers at Boston Children’s Hospital decided a framework was needed for deciding. 

Dr. Maya Chopra, Director of Translational Genomic Medicine at the Rosamund Stone Zander Translational Neuroscience Centre at Boston Children's Hospital, is the lead author on a new paper in the journal Molecular Therapy: Methods & Clinical Development, that puts forth such a framework. This collaborative effort that took almost two years of reading and learning and listening to the rare disease community.

The paper is intended for clinicians and researchers building gene therapy programs, scientists in the field of gene therapy research, and rare disease advocacy organizations. Clinicians, scientists, and gene technology companies could use the framework to help focus gene therapy development efforts on conditions with a higher score for gene therapy suitability. Advocacy groups and funding agencies could utilize the framework to identify gaps in the body of research for a specific disorder and direct funding accordingly.

You can read the full paper here.

Conference provides insights for rare disease organizations

The annual Global Genes RARE Patient Advocacy Summit held last month in San Diego is one of the world’s largest gatherings of rare disease patients, caregivers, advocates, healthcare professionals, researchers, and partners. Sessions provided insights about the latest in rare disease innovations, best practices for advocating on an individual and organizational level, and actionable strategies to take home.

Chief Scientific Officer Eric Scheeff attended on behalf of IDefine and came away optimistic and energized.

“It’s exciting just how much is happening in this space, how it's exploding with activity, and how there are so many people focused on rare diseases,” said Scheeff. “So many companies are springing up because they see an opportunity here. That's incredibly exciting because it means as an organization, we have options about who we work with and what we explore preclinically in terms of a possible treatment.”


Quick Clips on Kleefstra

  • Brianna's Brigade: This coming Sunday, October 23rd, the Reed family is hosting their 3rd Brianna's Brigade Walk + Pumpkin Carving!  Apple cider, pumpkin carving, a community supporting each other, and DONUTS!  Cheers to a great event celebrating the beautiful Brianna, and THANK YOU!

  • Southern Roots Reunion:  We are 6 months away from the 2nd annual Southern Roots Reunion benefitting IDefine.  At the inaugural event, we had 13 KS families from across the country attend, connect, and enjoy some great food and music!  Follow along on Instagram @southernrootsreunion and Facebook @southernrootsreunion!

  • Camp Spearhead-IDefine Open:  This past Monday, October 17th, the 15th Annual John Cameron Memorial Camp Spearhead-IDefine Open was held in Greenville, SC.  32 teams of four came out for a beautiful day and raised over $210,000 for these two great charities!  

  • Host a Fundraiser and Get Involved: We invite you to lean into our effort to build a brighter future for our loved ones.  IDefine is seeking help for conference planning, community development, and fundraising.  If you are interested in helping to push our initiatives forward, please reach out today at  Help define a new future!


IDefine, Inc
925B PEACHTREE STREET NE BOX 2173  | Atlanta, Georgia 30309

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