Developmental Disorder News and Research

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Rare variants in the YKT6 gene cause new neurological disorder, study finds

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.

1 Apr 2024

DNA origami used to unveil novel Notch receptor activation pathway

Researchers at Karolinska Institutet in Sweden have used DNA origami, the art of folding DNA into desired structures, to show how an important cell receptor can be activated in a previously unknown way.

18 Jan 2024

AI models using retinal images achieve perfect accuracy in diagnosing autism

Study demonstrates that deep ensemble models (DEMs) using high-resolution retinal images can accurately diagnose autism spectrum disorder (ASD) in children, achieving an AUROC of 1.00 for ASD detection and 0.74 for estimating ASD severity, offering a promising approach for computer-aided ASD diagnosis.

19 Dec 2023

Study discovers epigenetic regulator's critical role in mitochondrial metabolism

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

9 Oct 2023

Autism spectrum disorder may be linked to imbalance of neurons in the brain

Using human "mini-brain" models known as organoids, Mayo Clinic and Yale University scientists have discovered that the roots of autism spectrum disorder may be associated with an imbalance of specific neurons that play a critical role in how the brain communicates and functions.

10 Aug 2023

Study finds correlations between how and which organ systems are affected in individuals with new epileptic disorder

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.

29 Mar 2023

CDC report finds a continued rise in the overall prevalence of autism among 8-year-olds

Researchers at the Johns Hopkins Bloomberg School of Public Health contributed to a new Centers for Disease Control and Prevention report that found a continued rise in the overall prevalence of autism among 8-year-olds in 2020, the year the data was collected, as well as notable sex and racial/ethnic trends.

23 Mar 2023

New discoveries made regarding autism onset in mouse models

Although autism is a common neurodevelopmental disorder, the multiple factors behind its onset are still not fully understood.

10 Mar 2023

Drug treatment in adulthood can counteract the behavioral abnormalities typical of autism

The behavioral disorders observed in autism are associated with a multitude of genetic alterations. Scientists from the Hector Institute for Translational Brain Research (HITBR) have now found another molecular cause for this condition.

14 Feb 2023

Researchers identify 27 genetic risk variants related to ADHD

Why do some people get ADHD, while others do not? And how early in life or in the womb is the seed of ADHD sown?

9 Feb 2023

Researchers identify new mechanism that causes hereditary diseases

Researchers from Charité – Universitätsmedizin Berlin, the Max Planck Institute for Molecular Genetics (MPIMG), and the University Hospital Schleswig-Holstein (UKSH) have investigated in detail how BPTA syndrome, an extremely rare hereditary condition, arises.

9 Feb 2023

Differences in brain wiring could explain social communication difficulties in autistic children

Children with autism often struggle to identify emotional cues in other people's voices because of differences in the wiring and function of a key social center in their brains, according to a new study from the Stanford School of Medicine.

19 Jan 2023

Researchers discover previously unknown mechanism for how 'starvation response' is triggered

Body cells burn off fat reserves when nutrient supply from food ceases. A team led by Professor Volker Haucke and Dr. Wonyul Jang from the Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP) has now discovered a previously unknown mechanism for how this “starvation response” is triggered, and what can inhibit it.

15 Dec 2022

Study reveals mechanism by which malignant cells shut down anti-cancer immune responses

A Ludwig Cancer Research study has revealed a single protein expressed at high levels by cancer cells across a broad range of malignancies that erects a multifaceted barrier to anti-cancer immune responses in mouse models of cancer and so shields tumors from immune detection and destruction.

20 Nov 2022

Developmental Disorder News and Research

Rare variants in the YKT6 gene cause new neurological disorder, study finds

DNA origami used to unveil novel Notch receptor activation pathway

AI models using retinal images achieve perfect accuracy in diagnosing autism

Study discovers epigenetic regulator's critical role in mitochondrial metabolism

Autism spectrum disorder may be linked to imbalance of neurons in the brain

Study finds correlations between how and which organ systems are affected in individuals with new epileptic disorder

CDC report finds a continued rise in the overall prevalence of autism among 8-year-olds

New discoveries made regarding autism onset in mouse models

Drug treatment in adulthood can counteract the behavioral abnormalities typical of autism

Researchers identify 27 genetic risk variants related to ADHD

Researchers identify new mechanism that causes hereditary diseases

Differences in brain wiring could explain social communication difficulties in autistic children

Researchers discover previously unknown mechanism for how 'starvation response' is triggered

Study reveals mechanism by which malignant cells shut down anti-cancer immune responses

Researchers characterize subtle differences in the brains of primates and humans

Stanford Medicine scientists receive $10 million for research on sleep and autism

Genetic screening before pregnancy detects the risk in 44% of couples

Evidence COVID in pregnancy can affect offspring's neurodevelopment

Amygdala in children diagnosed with autism begins its accelerated growth during infancy

Researchers detect differences between the brains of boys and girls with autism

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

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