Congenital Disorders of Glycosylation News and Research

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Researchers discover mechanism for congenital disorders of glycosylation

Greenwood Genetic Center researchers are reporting the discovery of a mechanism that contributes to the tissue phenotypes seen in PMM2-CDG, the most common of the congenital disorders of glycosylation (CDGs).

8 Dec 2021

Heidelberg researchers replicate rare genetic defect in fish model

A rare genetic defect that affects the so-called ALG2 gene can cause serious metabolic diseases in humans. It does so through the defective formation of proteins and sugar molecules.

23 Jun 2021

Researchers question the mechanism of retinitis pigmentosa

Researchers who made a knock-in mouse-model of the genetic disorder retinitis pigmentosa 59, or RP59, expected to see retinal degeneration and retinal thinning. As reported in the journal Cells, they surprisingly found none, calling into question the commonly accepted -- though never proved -- mechanism for RP59.

12 Jun 2020

NIH grants boost rare diseases research efforts

Of an estimated 6,500 to 7,000 known rare diseases, only a fraction - maybe 5% - have U.S. Food and Drug Administration-approved treatments.

4 Oct 2019

New tests could improve diagnosis of two rare childhood diseases

For the first time, researchers have developed tests that could improve the diagnosis of two rare childhood diseases known as congenital disorders of glycosylation (CDGs) and metachromatic leukodystrophy, and that could even lead to new treatments for CDGs.

5 Jan 2016

Children born with CDG don't contain mutation in every cell type, say Sanford-Burnham researchers

Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars.

10 May 2013

Whole-exome sequencing discovers cause of glycosylation disorders

Sequencing a patient's entire genome to discover the source of his or her disease is not routine - yet. But geneticists are getting close. A case report, published this week in the American Journal of Human Genetics, shows how researchers can combine a simple blood test with an "executive summary" scan of the genome to diagnose a type of severe metabolic disease.

4 Feb 2012

Researchers successfully treat severe congenital disorder in mouse model

Using a mouse model, Heidelberg University Hospital researchers have for the first time successfully treated a severe congenital disorder in which sugar metabolism is disturbed.

23 Dec 2011

Scientists discover gene mutation responsible for CDG

An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, has discovered the gene mutation responsible for a condition in which eye and brain development is severely disrupted in affected infants.

16 Jul 2010

Systems biology and glycomics used to study human inflammatory diseases

An innovative systems biology approach to understanding the carbohydrate structures in cells is leading to new ways to understand how inflammatory illnesses and cardiovascular disease develop in humans. The work was described in two recent publications by University at Buffalo chemical engineers.

28 Oct 2008