Mucolipidosis News and Research

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Researchers identify a new gene implicated in rare lysosomal storage disorder

In a rare disease called mucolipidosis type II, people’s hearts and abdomens swell, and their bones grow malformed.

6 Oct 2022

Small molecule restores normal heart development in animal model with rare genetic disorder

A research team at the Greenwood Genetic Center has successfully used small molecules to restore normal heart and valve development in an animal model for Mucolipidosis II (ML II), a rare genetic disorder. Progressive heart disease is commonly associated with ML II.

15 Oct 2020

Variations in singular genes could have large impact on hereditary facial features

Do you have your grandmother's eyes? Or your father's nose? A new study by the Universities of Oxford and Surrey has uncovered variations in singular genes that have a large impact on human facial features, paving the way to understanding what determines the facial characteristics passed on from generation to generation.

9 Jan 2018

Gene therapy may be effective method for treating Niemann-Pick disease, type C1

For the first time, National Institutes of Health researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1).

26 Oct 2016

Mouse model offers insight into molecular, neurological basis of stuttering

Mice that vocalize in a repetitive, halting pattern similar to human stuttering may provide insight into a condition that has perplexed scientists for centuries, according to a new study by researchers at Washington University School of Medicine in St. Louis and the National Institutes of Health.

16 Apr 2016

UAB's Undiagnosed Diseases Program finds answers for mysterious health issues

Stephanie and Christopher Smith have been on a long, difficult and often frustrating journey to find answers for the mysterious health issues of their children. It started 24 years ago when their third child, Gage, was born. Gage, his younger brother Aiden and then sister Mandalynn, now 13, all developed mysterious symptoms that mystified doctors.

29 Dec 2015

Researchers explore how M6P deficiency affects different kinds of immune cells

A group of white blood cells known as B cells, which play a key role in the human immune response, need a protein-targeting signal called mannose 6-phosphate (M6P) in order to proliferate, differentiate, and present immune cell-activating antigens, according to a study in The Journal of Cell Biology.

20 Jan 2015

Genetic basis of hereditary disease causes severe brain atrophy in Jews of Moroccan ancestry

Ben-Gurion University of the Negev (BGU) researchers have unraveled the genetic basis of a hereditary disease that causes severe brain atrophy, mental retardation and epilepsy in Jews of Moroccan ancestry, according to a study published this week online in the Journal of Medical Genetics.

11 Mar 2014

Potential new way to treat rare inherited metabolic disorders

A University of Michigan cell biologist and his colleagues have identified a potential drug that speeds up trash removal from the cell's recycling center, the lysosome.

14 Mar 2012

New research focuses on calcium channels in lysosome membrane

In cells, as in cities, disposing of garbage and recycling anything that can be reused is an essential service. In both city and cell, health problems can arise when the process breaks down.

15 Jul 2010

Researchers receive honorary Doctor of Medicine degrees

Two genetics researchers from the Johns Hopkins University School of Medicine have been awarded prestigious honorary Doctor of Medicine degrees by European scientific institutions.

17 Apr 2010

NYU professor conducts genetic screening at academic campuses in Boston

Dr. Harry Ostrer, professor of pediatrics, pathology and medicine at NYU Langone Medical Center will be conducting genetic screening at four college campuses in Boston on February 1st and 2nd. Individuals interested in being screened should sign- up online at www.med.nyu.edu/genetics.

28 Jan 2010

Research to explore diagnosis and treatment of rare diseases

The National Institutes of Health announced today a second phase of the Rare Diseases Clinical Research Network (RDCRN) including funds for 19 research consortia.

7 Oct 2009