Developmental Disorder News and Research

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Researchers Provide Genetic Diagnosis for 30 Long-Term Undiagnosed Cases

An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing.

11 Nov 2024

Personalized Mini-Brains Provide Insight into Autism Spectrum Disorder

Using stem cells generated from patients with a rare and severe form of autism spectrum disorder and intellectual disability, Scripps Research scientists have grown personalized "mini-brains" (or organoids) to study the disorder in new detail.

24 Oct 2024

Protein Imbalance Linked to Rare Developmental Disorder

According to a recent study from the University of Lausanne, serious intellectual impairments can result from both an excess or a shortage of a single protein.

31 May 2024

Rare YKT6 Gene Variants Linked to New Neurological Disorder

A recent collaborative study has discovered rare variants in the YKT6 gene as the cause of a new neurological disorder characterized by developmental delays along with severe progressive liver disease and a potential risk for liver cancer.

2 Apr 2024

Epigenetic Regulator MOF Plays Critical Role in Mitochondrial Function

The intricate control of cellular metabolism relies on the coordinated and harmonious interplay between the nucleus and mitochondria.

10 Oct 2023

Genetic Risk of Depression Linked to Increased Risk of Other Psychiatric Disorders

Recent research reveals that people who are hospitalized for depression are at an increased risk of developing conditions like substance abuse, bipolar disorder, schizophrenia, and anxiety, depending on their genetic predisposition to the individual disorder.

30 Aug 2023

Study expands understanding of PAK1-related IDDMSSD

A recent study from Texas Children's Hospital and Baylor College of Medicine has expanded the clinical spectrum of a new epileptic disorder called Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay (IDDMSSD) with the identification of the first recurrently affected residue identified in the protein kinase domain of PAK1 protein.

30 Mar 2023

Genetic variants that increase the risk of ADHD identified

Why are some people diagnosed with ADHD while others are not? And when is the seed of ADHD sown, in life or the womb?

10 Feb 2023

Study reveals causal gene in autism model mice with copy number variation

A new study has unraveled a causal gene (Necdin, NDN) in autism model mice that exhibit the chromosomal abnormality known as copy number variation.

13 Jul 2021

Catechin-type flavonoid compounds in tea relax blood vessels by activating ion channel proteins

A new study from the University of California, Irvine shows that compounds in both green and black tea relax blood vessels by activating ion channel proteins in the blood vessel wall.

9 Mar 2021

Study sheds new light on a genetic developmental disorder

The rare hereditary developmental disorder, called Meier-Gorlin syndrome, or MGS for short, causes dwarfism, missing patella, a small brain, small ears, and other skeletal abnormalities. This condition leads to stillbirths and miscarriages in severe cases.

15 Dec 2020

Research reveals fundamental insights into the causes of severe birth defects

Research by Kai Jiao, M.D., Ph.D., and colleagues at the University of Alabama at Birmingham and in Germany has yielded fundamental insights into the causes of severe birth defects known as CHARGE syndrome cases. These congenital birth defects include severe and life-threatening heart malformations.

3 Dec 2020

Structural map reveals changes in SMCHD1 protein linked to degenerative conditions

Researchers have used structural biology to map a portion of a protein called SMCHD1, describing how certain modifications can lead to degenerative conditions.

18 Jun 2020

Dysfunctional placenta can contribute to Cornelia de Lange syndrome

Researchers have demonstrated that a dysfunctional placenta can play a formerly unknown role during the earliest phases of development in Cornelia de Lange.

17 Jun 2020