@IDefine
Committed to identifying life-changing treatments & cures for Kleefstra Syndrome
IDefine NHS Enrollment Announcement.pdf
IDefine NHS Enrollment Announcement.pdf
Hotel Reservations: IDefine - The Kleefstra Syndrome Foundation 2026 Family + Scientific Conference
Hotel Reservations: IDefine - The Kleefstra Syndrome Foundation 2026 Family + Scientific Conference
Book your hotel room for the event at special rates, available here on an exclusive basis.
Conference Registration: IDefine 2026 North American Kleefstra Syndrome Family + Scientific Conference
Conference Registration: IDefine 2026 North American Kleefstra Syndrome Family + Scientific Conference
See You in Boston in August! Join us for the IDefine Family Conference in Boston 2026! This conference will bring together families, doctors, professionals and fun activities for our Kleefstra syndrome community!
Newsletter Sign Up
Newsletter Sign Up
Join the Kleefstra Syndrome Worldwide Map
Join the Kleefstra Syndrome Worldwide Map
Welcome to Kleefstra Syndrome worldwide map. In the map below you can see the locations of KS individuals.
Citizen Health: Making the Caregiver Journey Easier. Join today!
Citizen Health: Making the Caregiver Journey Easier. Join today!
Transform hours of medical paperwork into instant answers with Citizen Health's AI Advocate. Built by rare disease families, for rare disease families, get answers to your questions about medications, treatments, and care coordination for rare diseases. Trusted by 50+ patient advocacy groups.
ICD-10 code ID card for Kleefstra Syndrome
ICD-10 code ID card for Kleefstra Syndrome
International Clinical Evidence-based Guideline for Kleefstra Syndrome - ScienceDirect
International Clinical Evidence-based Guideline for Kleefstra Syndrome - ScienceDirect
Kleefstra syndrome (KLEFS1) is a rare monogenic neurodevelopmental disorder (mNDD) with multisystem involvement, caused by disruption of EHMT1 functio…
Create Account - Simons Searchlight
Create Account - Simons Searchlight
Clinical Trial Opportunity: Emerald | Resilience Studies
Clinical Trial Opportunity: Emerald | Resilience Studies
Rare-X Kleefstra Syndrome Data Collection Program
Rare-X Kleefstra Syndrome Data Collection Program
Baby Is Healed With World’s First Personalized Gene-Editing Treatment
Baby Is Healed With World’s First Personalized Gene-Editing Treatment
The technique used on a 9½-month-old boy with a rare condition has the potential to help people with thousands of other uncommon genetic diseases.
The First Human to Undergo In Vivo CRISPR 2.0 Personalized Genome Editing
The First Human to Undergo In Vivo CRISPR 2.0 Personalized Genome Editing
Potentially a lifesaving intervention with major implications
Development of a Patient and Caregiver-Centered Pediatric Disease Concept Model for Kleefstra Syndrome
Development of a Patient and Caregiver-Centered Pediatric Disease Concept Model for Kleefstra Syndrome
Background: Kleefstra syndrome (KLEFS1) is a rare neurodevelopmental genetic condition caused by the loss of function of EHMT1. Currently, there are no approved...
Family by Fate: Hezekiah’s Journey
Family by Fate: Hezekiah’s Journey
Enjoy the videos and music you love, upload original content, and share it all with friends, family, and the world on YouTube.
Hezekiah’s Journey: A Story of Love, Advocacy, and Strength - IDefine
Hezekiah’s Journey: A Story of Love, Advocacy, and Strength - IDefine
New Natural History Study for Kleefstra Syndrome: A Q&A for Families - IDefine
New Natural History Study for Kleefstra Syndrome: A Q&A for Families - IDefine
IDefine is excited to announce a new natural history study in partnership with Boston Children's Hospital (BCH), aimed at better understanding Kleefstra syndrome (KS). Led by Dr. Siddharth Srivastava, this study will significantly advance research, providing vital information that could pave the way for future treatments. Here’s what families considering participation need to know.
A Historic Step Forward: IDefine Approves $300,000 for Natural History Study with Boston Children's Hospital - IDefine
A Historic Step Forward: IDefine Approves $300,000 for Natural History Study with Boston Children's Hospital - IDefine
The Kleefstra syndrome (KS) community is celebrating a significant milestone in the journey toward clinical trial readiness, as IDefine’s Board of Directors has officially approved a $300,000 investment over three years to support a natural history study in partnership with Boston Children’s Hospital. This crucial funding covers half of the study’s total cost, with Boston […]
IDefine x RSZ TNC Joint Release.pdf
IDefine x RSZ TNC Joint Release.pdf
Family by Fate: Meet the Ng-Gerritsens - IDefine
Family by Fate: Meet the Ng-Gerritsens - IDefine
This is the first in a series of ‘Family by Fate’ articles intended to help our community get to know one another better Yvonne-Ng-Gerritsen, her husband, Wim Gerritsen, and their nine-year-old daughter, Naomi, and six-year-old son, Toby, live in Barrie, Ontario 70 miles north of Toronto. Toby was diagnosed with Kleefstra syndrome at five-months-old. How […]
IDefine 2024 Impact Report
IDefine 2024 Impact Report
Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders
Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders
Research Funding Opportunities - IDefine
Research Funding Opportunities - IDefine
Kleefstra Syndrome Speech and Language
Kleefstra Syndrome Speech and Language
Publication: Expanding the phenotype of Kleefstra syndrome
Publication: Expanding the phenotype of Kleefstra syndrome
Regression in Kleefstra Syndrome - IDefine
Regression in Kleefstra Syndrome - IDefine
Study Participation: Circadian EHMT1 Recruitment Flyer
Study Participation: Circadian EHMT1 Recruitment Flyer
The Intersection of Kleefstra Syndrome with the Circadian Clock by Dr. Jonathan Lipton
The Intersection of Kleefstra Syndrome with the Circadian Clock by Dr. Jonathan Lipton
Sleep - SPARK for Autism
Sleep - SPARK for Autism
COMBINEDBrain: Working together to develop resources for rare genetic neurodevelopmental disorders
COMBINEDBrain: Working together to develop resources for rare genetic neurodevelopmental disorders
Ciitizen: Digital Natural History Study for Kleefstra Syndrome by Virginie McNamaruTube
Ciitizen: Digital Natural History Study for Kleefstra Syndrome by Virginie McNamaruTube
Double the Donation
Double the Donation
IDefine
IDefine
Found! Lost Puzzle Piece Involved in Gene Regulation Revealed in Search That Began in Water-Loving, One-Celled Organism
Found! Lost Puzzle Piece Involved in Gene Regulation Revealed in Search That Began in Water-Loving, One-Celled Organism
KS in Mice Reversed After Birth
KS in Mice Reversed After Birth
Donate to IDefine
Donate to IDefine
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