Hirschsprung Disease News and Research

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Uncovering the hidden genetic connections behind COVID-19 and comorbidities

Researchers performed a protein diffusion network analysis using tissue-specific GRNs to identify predispositions to COVID-19.

21 Jun 2023

Neuropilin 2 identified as a novel regulator of distal colonic smooth muscle motility

Colonic motility disorders, especially problems associated with constipation and diarrhea, are common in adults and children, greatly impacting quality of life.

11 Oct 2022

Assessing the association of COVID-19 and Immunoglobulin A vasculitis in children

In a recent study posted to the Research Square* preprint server, researchers conducted a systematic review to investigate any association between immunoglobulin A (IgA) vasculitis and coronavirus disease 2019 (COVID-19) in children.

8 Feb 2022

Rice University neurobiologist wins NIH grant to study enteric nervous system development

Rice University neurobiologist Rosa Uribe will be hitting the books for her latest study of the digestive system, but some of the pages in her books are a billion years old.

10 May 2021

Study determines mechanisms underlying abnormal development of nervous system in Hirschsprung disease

Ankush Gosain, MD, PhD, of Le Bonheur Children's Hospital and the University of Tennessee Health Science Center has focused his research on determining the mechanisms underlying abnormal development of the enteric nervous system in Hirschsprung disease.

14 Oct 2020

New imaging method allows scientists to view key part of the colon in 3D

In a groundbreaking discovery, researchers at Children's Hospital of Philadelphia developed a new imaging method that allows scientists to view the enteric nervous system - a key part of the human colon - in three dimensions by making other colon cells that normally block it invisible.

27 Feb 2020

Rare gut condition is more predictable from individual's genetic makeup, study finds

Hirschsprung disease - a rare condition where the failure of gut nerves to develop before birth leads to impaired bowel contractions that prevent infants from passing stool - is more predictable from an individual's genetic makeup than previously envisioned.

11 Apr 2019

Study identifies recurrent genomic alterations in subset of breast cancer

A genomic analysis study by Rutgers Cancer Institute of New Jersey investigators and other colleagues has identified recurrent genomic alterations in a subset of breast cancer that are typically associated with a form of thyroid cancer and an intestinal birth defect known as Hirschsprung disease.

9 Dec 2016

New research sheds light on the role of Sox10 protein in Hirschsprung's disease patients

Defects in the protein Sox10, a transcription factor that regulates gene expression, may play a role in the development of post-operative GI dysfunction in Hirschsprung's disease patients, according to new research published in Cellular and Molecular Gastroenterology and Hepatology, the new basic science journal of the American Gastroenterological Association.

16 Jan 2015

Planar cell polarity genes control connectivity of enteric neurons

The enteric nervous system (ENS), the "little brain" that resides within the gut wall, governs motility, secretion, and blood flow in the human gastrointestinal tract. Failure of the ENS to develop normally leads to congenital megacolon (Hirschsprung Disease) while loss of normal gut innervation is thought to contribute to debilitating motility disorders, such as irritable bowel syndrome.

11 Mar 2013

New study recommends intraoperative histological evaluation for Hirschsprung disease treatment

Hirschsprung disease occurs when nerve cells in the colon do not develop normally before birth and the bowel is unable to move its contents along. Severe bowel obstruction and even perforation can then occur. The condition is usually diagnosed within the first months of life, but can be found in older children as well.

18 Apr 2012

ATS releases new clinical policy statement on CCHS

The American Thoracic Society has released a new official clinical policy statement on congenital central hypoventilation syndrome (CCHS), a disorder of respiratory and autonomic nervous system (ANS) regulation. The ANS regulates reflexive acts, including heart rate and blood pressure, digestion, body temperature and pain perception.

15 Mar 2010

Researchers develop new tool to find gene control regions

Researchers at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins have invented a cost-effective and highly efficient way of analyzing what many have termed "junk" DNA and identified regions critical for controlling gene function.

28 Mar 2006

Common genetic mutation that increases the risk of inheriting Hirschsprung disease

Gene hunters at Johns Hopkins have discovered a common genetic mutation that increases the risk of inheriting a particular birth defect not by the usual route of disrupting the gene's protein-making instructions, but by altering a regulatory region of the gene. Although the condition, called Hirschsprung disease, is rare, its complex genetics mimics that of more common diseases, such as diabetes and heart disease.

13 Apr 2005

Genetic mutation link to sudden infant death syndrome

Researchers at Rush University Medical Center, and colleagues at the University of Pittsburgh have identified mutations in genes pertinent to the autonomic nervous system among babies who died of sudden infant death syndrome (SIDS) that might explain why they died.

21 Aug 2004

Crucial discovery may help better diagnose and treat children with Hirschsprung disease

Researchers at Fox Chase Cancer Center have made a crucial discovery that may help physicians better diagnose and treat children with Hirschsprung disease, a debilitating and sometimes life-threatening ailment that causes bowel obstruction and involves an array of genetic changes.

5 Jun 2004