Kabuki Syndrome News and Research

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COMBINEDBrain receives grant from the Chan Zuckerberg Initiative to accelerate research for rare neurological disorders

COMBINEDBrain's Founder and Director, Dr. Terry Jo Bichell, understands the power of collaboration. In her years as a neuroscientist, advocate, and rare patient parent, she has witnessed the field of neurodevelopment transform from a broad focus on autism or intellectual disability, to an era based on rare genetic disorders.

16 May 2023

Shattered dreams and bills in the millions: Losing a baby in America

The day after his 8-month-old baby died, Kingsley Raspe opened the mail and found he had been sent to collections for her care.

23 Sep 2022

Study sheds new light on the role of MLL4 gene in Kabuki syndrome

Scientists have known for years that mutations in the MLL4 gene can cause Kabuki syndrome, a rare developmental disorder.

11 Jan 2021

Artificial intelligence can be used to efficiently diagnose rare diseases

Researchers at the University of Bonn show that using portrait photos in combination with genetic and patient data improves diagnoses.

6 Jun 2019

Researchers use epigenetic signatures to advance diagnosis for neurodevelopmental disorders

Greenwood Genetic Center researchers in collaboration with scientists from Canada have identified unique epigenetic signatures for nine neurodevelopmental disorders lending to a better method of diagnosis for disorders with much clinical overlap.

23 Jan 2018

Low-carbohydrate diet may help reverse inherited intellectual disability linked to Kabuki syndrome

Experimenting on mice with a genetic change similar to that found in people with a rare inherited disease called Kabuki syndrome, Johns Hopkins scientists report that a very low-carbohydrate diet can "open up" DNA and improve mental function.

20 Dec 2016

Researchers discover genetic alterations responsible for Kabuki syndrome

Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation. Instead of sequencing the entire human genome, the new approach sequences just the exome, the 1-2 percent of the human genome that contains protein-coding genes.

16 Aug 2010