Mucopolysaccharidoses News and Research

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Researchers make progress toward gene-based strategies to treat inherited neurometabolic diseases

Researchers are making great strides toward developing gene-based strategies to treat a variety of inherited neurometabolic diseases characterized by severe neurological involvement.

29 Oct 2019

Cascade aggravates hereditary storage diseases

In rare, hereditary storage diseases such as Sandhoff's disease or Tay-Sachs syndrome, the metabolic waste from accumulating gangliosides cannot be properly disposed of in the nerve cells because important enzymes are missing.

26 Jun 2019

New therapeutic approach may delay neurodegeneration in rare genetic disease

A new therapeutic approach may one day delay neurodegeneration typical of a disease called mucopolysaccharidoses IIIB. Neurodegeneration in this condition results from the abnormal accumulation of essential cellular molecules called mucopolysaccharides.

21 Jun 2018

Gene editing within a living person for the first time

Genetic editing has been performed in the laboratory until now. Living cells within Petri-dishes have been put under the microscope while gene editing tools such as CRISPR were used to cut, nick and replace parts of the DNA or genome that is defective with bits of DNA that is correct in its sequence. Now doctors in California have attempted to edit cells within a living person.

19 Nov 2017

Newly discovered biomarker linked to rare metabolic disorders may facilitate better diagnosis

A newly discovered biomarker associated with a rare metabolic disorder may facilitate better diagnosis and identification of new drugs for clinical trials for the disease, according to researchers in the Perelman School of Medicine at the University of Pennsylvania.

7 Aug 2017

Synageva announces publication of LAL Deficiency review in Atherosclerosis

Synageva BioPharma Corp., a biopharmaceutical company developing therapeutic products for rare diseases, today announced the publication of an overview of lysosomal acid lipase deficiency (LAL Deficiency) in the online version and an upcoming print edition of Atherosclerosis, the official journal of the European Atherosclerosis Society.

21 Apr 2014

LA BioMed researchers test investigational drug for treatment of Sanfilippo B syndrome

A promising new therapy has - for the first time - reduced damage to the brain that can be caused by Sanfilippo B (MPS IIIB), a rare and devastating genetic disease, Los Angeles Biomedical Research Institute researchers will report today in a presentation at the Lysosomal Disease Network's 10th Annual WORLD Symposium-.

12 Feb 2014

Genzyme marks 2013 International Rare Disease Day

Genzyme, a Sanofi company, today announced its support of International Rare Disease Day with a series of initiatives meant to call attention to rare diseases as an important public health issue and to improve rare disease education, research, and treatment.

28 Feb 2013

SLU researchers to test new screening method for MPS disorders among infants

Researchers at Saint Louis University have received a five-year, $2.5 million National Institutes of Health grant to test a new method of screening newborns for a group of rare, but serious genetic disorders that affect approximately 200 babies born in the U.S., each year.

11 Jan 2013

Researchers discover genetic cause of type VII mucopolysaccharidosis in Brazilian Terriers

The genetics research group led by Professor Hannes Lohi, based at the University of Helsinki and the Folkh-lsan Research Center, has, in collaboration with Adjunct Professor Kirsi Sainio's research group, discovered the cause of a life-threatening skeletal disorder affecting Brazilian Terriers. The disease is caused by a mutation in the GUSB gene.

7 Aug 2012

Scientists develop simple, reliable test to identify biomarkers for MPS

A team of scientists, led by researchers at the University of California, San Diego School of Medicine and Zacharon Pharmaceuticals, have developed a simple, reliable test for identifying biomarkers for mucopolysaccharidoses (MPS), a group of inherited metabolic disorders that are currently diagnosed in patients only after symptoms have become serious and the damage possibly irreversible.

8 Jan 2012

Dermatan sulfate holds potential as an additional biomarker for Sanfilippo disease

Sanfilippo disease is a rare disorder caused by the failure of enzymes to break down specific kinds of complex carbohydrates, resulting in their accumulation in cells and often severe physical and neurological problems - and sometimes early death.

1 Mar 2011

Study suggests a new improved treatment option for children with Hurler's syndrome

Researchers have transplanted genetically modified hematopoietic stem cells into mice so that their developing red blood cells produce a critical lysosomal enzyme - preventing or reducing organ and central nervous system damage from the often-fatal genetic disorder Hurler's syndrome.

10 Nov 2009

Contribution of glycosaminoglycans to skeletal abnormalities in patients with lysosomal storage diseases demonstrated

A group led by Dr. Dieter Br-mme at the University of British Columbia has demonstrated that glycosaminoglycans (GAGs) contribute to skeletal abnormalities in patients with lysosomal storage diseases. Their report can be found in the November 2009 issue of The American Journal of Pathology.

21 Oct 2009

New understanding of Sly Syndrome

The scientist who discovered “Sly Syndrome” nearly four decades ago and a team of colleagues at Saint Louis University are a step closer to finding an approach to treat the rare genetic disease.

26 Jul 2007