Our Mission
IDefine is dedicated to accelerating Kleefstra syndrome (KS) research with a goal of eventually finding targeted treatments for the condition.
We do this through many activities, including the creation of cell lines, biorepositories, patient databases, and the organization of conferences and seminars. We also make strategic, targeted investments by funding research that we believe, based on the input of our Scientific Advisory Board, is likely to have a high impact on the potential development of treatments. This work may range all the way from foundational science to better understand KS, to highly translational projects close to the clinic.
Research Funding
The research funded by IDefine is made possible by the donations of our supporters, grassroots fundraisers, and families of those impacted by Kleefstra syndrome. Our board of directors believes it is critical to use these funds as efficiently as possible, and with the highest positive impact for the KS community. Therefore, as part of a board-directed policy, IDefine does not pay indirect costs as part of its funding of research projects.
Funding Opportunities
Currently Under Review (closed to new applications): IDefine Advanced Cell Modelling Request for Applications (RFA)
IDefine, the Kleefstra Syndrome Foundation, seeks applications that aim to use advanced in vitro cellular models to better understand Kleefstra syndrome (KS), and to develop a system that could be used in the future to screen and validate potential KS treatments. The funded project will receive $100,000 (USD), with a potential extension of an additional $100,000 in year two. Pre-existing iPSC lines will be provided for use in the funded project.
Get Involved
Growing our census of individuals with Kleefstra syndrome enables us to display our community engagment, connect, and provide visibility to current and future partners the number of families they could impact.
Medical records hold Important information on Kleefstra syndrome that could accelerate research. You can unlock those records and contribute them to research in a private and secure way.
The Simons Searchlight Registry is for individuals with a confirmed Kleefstra syndrome diagnosis. By joining the registry, you encourage research on EHMT1 and Kleefstra syndrome.
Begin the first step in making your patient information available to researchers. RARE-X is a data collection platform that asks general questions on all body systems in a series of “head to toe” surveys.
For Researchers
Kleefstra Syndrome is an excellent model system for drug development in the ID space:
- A single gene causes KS (EHMT1), and it has been extensively studied
- There has already been substantial scientific research on the underlying mechanisms of KS, and there is a highly active community of researchers
- EHMT1 is involved in epigenetic regulation, an area of research that has seen substantial investment and drug development in the last decade
- Epigenetic regulation appears to be a key factor in multiple ID syndromes, so development of a treatment for KS may inform options for other syndromes
- There is a very active community of KS families, opening the door to clinical study recruitment when a potential therapy has been identified
In consultation with our Scientific Advisory Board, we will pursue the most promising avenues for drug development, and “go where the science takes us”. A range of approaches are being reviewed, including small-molecule drug repurposing, small molecule drug development, oligonucleotide-based therapies, or gene therapies.
Scientific Advisory Board
Eric Scheeff
Eric Scheeff, Isaac’s father, is the Chief Scientific Officer of IDefine. He is a scientist with more than 20 years of experience spanning molecular biology, bioinformatics, and genomics.
Eric Scheeff
Eric Scheeff, Isaac’s father, is the Chief Scientific Officer of IDefine. He is a scientist with more than 20 years of experience spanning molecular biology, bioinformatics, and genomics. He received his Ph.D. from the University of California San Diego and performed original research at UCSD and the Salk Institute. He has authored numerous research articles, many of which are highly cited in their fields, as well as several book chapters. Eric pairs this rich scientific research background with substantial experience in the business world, including roles in product development, sales, and marketing.
Eric leads all aspects of the research program at IDefine, with a goal of eventually finding a treatment for KS.
Paul Smith
Paul, Edward’s father, is an accomplished pharmacologist with extensive pharmaceutical industry experience across all phases of the R&D process.
Paul Smith
Paul, Edward’s father, is an accomplished pharmacologist with extensive pharmaceutical industry experience across all phases of the R&D process. Dr. Smith received his Ph.D. in Immunology and Neuroscience at Imperial College London, UK and a B.Sc. in Pharmacology from the University of Bath, UK. Dr. Smith has more than 15 years of drug discovery experience primarily focused on the treatment of inflammatory and autoimmune diseases, and he is an inventor on fifteen issued or pending patents. He is currently the Vice President of Discovery Biology with Connect Biopharma. Prior to his career with Connect Biopharma, Dr. Smith was Senior Director of Inflammation and Autoimmunity at Incyte Corporation where he established the discovery research team.
Paul, the initial member of IDefine’s SAB, feels right at home in his position on the SAB. “I’m not just a guy on a scientific advisory board helping out with some scientific questions,” Paul said. “I’m a parent, I see Eric and Geoff as my friends, and I see them as people with a common goal and an infectious energy. I want to be working with them, it’s not an obligation.”
Prof. Tjitske Kleefstra
Dr. Kleefstra and her research team identified the genetic cause for the set of characteristics associated with what is, after her work, known as Kleefstra Syndrome.
Prof. Tjitske Kleefstra
In 2010, Dr. Kleefstra and her research team identified the genetic cause for the set of characteristics associated with what is, after her work, known as Kleefstra Syndrome (KS).
Dr. Kleefstra continues her work to improve diagnostics, management and treatment for patients with neurodevelopmental disorders, particularly those resulting in intellectual disabilities. She leads a research team focused on developing individual approaches to treating and managing these disorders, working to construct personalized healthcare for patients diagnosed with rare conditions.
Dr. Kleefstra remains an active participant in the KS community, building bridges between researchers and the families affected by KS and other intellectual disabilities. She provides monthly updates to the IDefine team and their colleagues, ensuring access to the latest scientific developments in her work. She sees great potential in IDefine’s capacity to bring teams of scientists and doctors together to work toward funding research and clinical trials for life-changing treatments and therapies for those diagnosed with KS.
“It is a great honour for me to highlight the launch of IDefine, the first US based, but globally supported, charity focused on fundraising for research on the Kleefstra Syndrome!
The syndrome that I, together with my colleagues in Nijmegen, The Netherlands, study intensively after we identified 15 years ago the causal genetic factor: the EHMT1 gene!
Only by joining world-wide efforts can we move this field on a RARE disorder forward to challenge the various aspects we all face.
It is difficult to foresee where we are in another 15 years, but we may expect huge steps that now only seem magic!
Thanks to all who made IDefine possible and looking forward to a well connected future!”
Alysson Muotri
Dr. Muotri is a professor at the Departments of Pediatrics and Cellular & Molecular Medicine at UC San Diego.
Alysson Muotri
Dr. Muotri is a professor at the Departments of Pediatrics and Cellular & Molecular Medicine at UC San Diego. He is also the Director of the Stem Cell Program and Archealization Center at UCSD. Dr. Muotri earned a BSc in Biological Sciences from the State University of Campinas in 1995 and a Ph.D. in Genetics in 2001 from University of Sao Paulo, in Brazil. He moved to the Salk Institute as Pew Latin America Fellow in 2002 for a postdoctoral training in the fields of neuroscience and stem cell biology. His research focuses on brain evolution and modeling neurological diseases using human induced pluripotent stem cells and brain organoids. He has received several awards, including the prestigious NIH Director’s New Innovator Award, NARSAD, Emerald Foundation Young Investigator Award, Surugadai Award, Rock Star of Innovation, NIH EUREKA Award, Telly Awards among several others.
Scott Dindot
Dr. Scott Dindot's team developed a novel therapeutic candidate for treating Angelman syndrome (AS).
Scott Dindot
Dr. Scott Dindot's team developed a novel therapeutic candidate for treating Angelman syndrome (AS). His laboratory is interested in understanding the molecular, genetic and epigenetic mechanisms underlying phenotypic variation and disease using multifaceted genetic, molecular and cell biological tools as well as genetically engineered model organisms and domestic animal models to understand the interplay between genetics, epigenetics and gene regulation.
Scott Galasinski
Scott Galasinski has worked in both biotech and pharma, including Head of BioPharmaceuticals Business Development at AstraZeneca.
Scott Galasinski
Scott Galasinski has worked in both biotech and pharma, including Head of BioPharmaceuticals Business Development at AstraZeneca, Head of Ultra-rare gene therapies at Novartis (previously Avexis), Executive Director at Ultragenyx, and group leader for many teams at Abbvie (previously Abbott labs). He earned his Ph.D. at the University of Colorado, Boulder. He has worked across many different therapeutic areas, and across many different therapeutic modalities including small molecules, biologics, AAV gene therapy, and nucleic acids. Scott likes to work with both science and business teams to find creative solutions to move medicines forward for diseases with unmet need.
Dr. Nael Nadif Kasri
Dr. Nael Nadif Kasri, is a neurobiologist who has extensive experience with the molecular mechanisms underlying synaptic plasticity.
Dr. Nael Nadif Kasri
Dr. Nael Nadif Kasri, is a neurobiologist who has extensive experience with the molecular mechanisms underlying synaptic plasticity, including imaging and electrophysiological methods in cellular and animal models. Since the start of his postdoctoral studies he has been interested in understanding the molecular mechanisms of neurodevelopmental disorders. In his postdoc he mainly focused on understanding the function of Intellectual disability (ID) genes related to the RhoGTPase pathway and he was among the first to posit that ID disorders are disorders of the synapse.
When starting his lab in 2011 at the Radboudumc, he joined the Human Genetics department (Nijmegen, the Netherlands) where he started several collaborations to understand the synaptic basis of ID. As such he has focused his research on several syndromes that were initially discovered in Nijmegen, being Kleefstra syndrome and Koolen-de Vries Syndrome. One of his recent contributions is the implementation of multi-electrode recordings in human induced pluripotent stem cells. This technique enables the stratification of patients who suffer from autism, which may lead to more specific therapies.
Dr. Nael Nadif Kasri was awarded with a Human Frontiers fellowship at Cold Spring Harbor Laboratories (USA), where he performed his second postdoctoral study. Since 2011 he has his own research group at the Radboudumc, and became part of the Donders Institute in Nijmegen, the Netherlands. There he was granted a prestigious Hypatia fellowship and a Marie Curie Career Integration Grant.
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