Hirschsprung's Disease News and Research

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The congenital defect where nerve cells at the end of the bowel are missing is known as Hirschsprung’s disease (HD). This absence of ganglia at the distal end of the colon results in functional obstruction of the bowel where the stool moves really slowly or doesn’t move at all. HD should be considered as a potential diagnosis in any newborn baby who fails to pass meconium (i.e., the baby’s first stool) within the first 24 – 48 hours after birth.

Study brings surgeons one step closer to helping babies with Hirschsprung's disease

Babies with Hirschsprung's disease are born with an incomplete or absent gut nervous system. Children's Hospital Los Angeles investigator Tracy Grikscheit, MD, runs a laboratory that investigates the therapeutic potential of tissue engineering - the induced growth of healthy tissue using stem cells.

22 May 2020

First viable mouse model of Hirschsprung's disease developed

About one in every 5,000 babies is born without enteric neurons in distal colon resulting in Hirschsprung's disease. Because of the lacking neurons, contents of the gut cannot pass normally resulting in constipation and enlargement of colon.

7 Jan 2019

Human colon organoids fill gap in effectively modeling common GI diseases

Scientists used human pluripotent stem cells to generate human embryonic colons in a laboratory that function much like natural human tissues when transplanted into mice, according to research published June 22 in Cell Stem Cell.

22 Jun 2017

Scientists use pluripotent stem cells to generate human stomach tissues in laboratory

Scientists report in Nature using pluripotent stem cells to generate human stomach tissues in a petri dish that produce acid and digestive enzymes.

5 Jan 2017

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

Study identifies genetic variants linked to Hirschsprung’s disease

Genetic studies in humans, zebrafish and mice have revealed how two different types of genetic variations team up to cause a rare condition called Hirschsprung’s disease. The findings add to an increasingly clear picture of how flaws in early nerve development lead to poor colon function, which must often be surgically corrected.

8 Apr 2015

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

Five prominent surgeons receive Honorary Fellowship from ACS

Last night Honorary Fellowship in the American College of Surgeons (ACS) was awarded to five prominent surgeons from Japan, the Philippines, Mexico, England, and Belgium during Convocation ceremonies that preceded the official opening of the 2012 ACS Annual Clinical Congress.

1 Oct 2012

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

U-M summit to focus on shortage of medical technologies for children

The University of Michigan is hosting the three-day summit that will focus attention on the widespread shortage of medical technologies to help sick children.

From Medtronic 1 Mar 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

Genetic fishing expedition yields surprising catch important to mammals

Johns Hopkins investigators report the discovery of master controllers of a gene critical to human and all mammalian development by trawling, implausibly enough, through anonymous genetic sequences using tiny zebrafish embryos.

21 Sep 2008

Real-time imaging device may improve surgery for congenital colon disease

Researchers at Cedars-Sinai Medical Center are developing a spectral imaging system that could result in shorter operating times for infants undergoing surgery for Hirschsprung's disease, according to a mouse study reported in the Journal of Biophotonics.

1 Mar 2008

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

Cell replacement therapy offers a novel and powerful medical technology

Cell replacement therapy offers a novel and powerful medical technology. A type of embryonic stem cell, called a neural crest stem cell, that persists into adulthood in hair follicles was recently discovered by Maya Sieber-Blum, Ph.D., of the Medical College of Wisconsin, Milos Grim, MD Ph.D., of Charles University Prague, and their collaborators.

13 Dec 2004

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