Krabbe Disease News and Research

RSS

New discovery about microglia heralds myriad possibilities for treating neurodegenerative diseases

Combating Alzheimer's and other neurodegenerative diseases by inserting healthy new immune cells into the brain has taken a leap toward reality.

30 Jan 2023

Gene defect underlying Krabbe disease causes degeneration of neurons directly, study finds

The gene defect underlying Krabbe disease causes degeneration of neurons directly, independent of its effects on other cell types, according to a new study publishing July 5th in the open-access journal PLOS Biology by Daesung Shin of the University at Buffalo, U.S. and colleagues.

5 Jul 2022

Study offers hope for treatment of Krabbe disease

In one out of 100,000 infants, a mutation in the GALC gene causes an incurable, always fatal disorder known as infantile Krabbe disease, or globoid cell leukodystrophy. Most children with the condition die before they turn 2.

26 Aug 2020

Umbilical cord blood safely and effectively treats children with rare genetic disorders

Researchers at UPMC Children's Hospital of Pittsburgh found that infusing umbilical cord blood - a readily available source of stem cells - safely and effectively treated 44 children born with various non-cancerous genetic disorders, including sickle cell, thalassemia, Hunter syndrome, Krabbe disease, metachromatic leukodystrophy (MLD) and an array of immune deficiencies.

14 Jul 2020

Scientists pinpoint cause of fatal genetic disorder in children

Scientists at Washington University School of Medicine in St. Louis appear to have solved a decades-long mystery regarding the precise biochemical pathway leading to a fatal genetic disorder in children that results in seizures, developmental regression and death, usually around age 3.

17 Sep 2019

URMC researchers identify potential new means of treating severe genetic diseases in children

University of Rochester Medical Center researchers believe they have identified a potential new means of treating some of the most severe genetic diseases of childhood, according to a study in PLOS Biology.

16 Dec 2016

Pathology of Krabbe's disease may provide insights on late-onset neurodegenerative diseases

A recent article suggests that an enzyme deficiency seen in the lysosomal storage disorder Krabbe's disease may point to new and contributing mechanisms underlying certain late-onset neurodegenerative diseases such as Parkinson's disease.

21 Oct 2016

Enzyme deficiency in Krabbe's disease may point to new mechanisms underlying Parkinson's disease

A new article suggests that an enzyme deficiency seen in the lysosomal storage disorder Krabbe's disease may point to new mechanisms underlying certain late-onset neurodegenerative diseases such as Parkinson's disease.

19 Sep 2016

Researchers develop new method to capture how brain cells interact

Interactions between brain cells hold the key to healthy brain function and cognition, but many of those interactions are notoriously difficult to study.

21 Sep 2015

State highlights: Calif.'s Prop. 45 fight; new benefits for same sex couples in N.C.; Aetna sheds jobs after Medicaid drop

A selection of health policy stories from California, North Carolina, Delaware, New York, Georgia, Pennsylvania, New Jersey, Florida and Kansas.

17 Oct 2014

Research findings may offer new therapeutic target for management of Gaucher diseas

What causes brain damage and inflammation in severe cases of Gaucher disease? Little is known about the events that lead to brain pathology in some forms of the disease, and there is currently no treatment available - a bleak outlook for sufferers and their families. Now, scientists at the Weizmann Institute of Science have discovered a new cellular pathway implicated in Gaucher disease.

19 Jan 2014

New treatment strategy for patients with CMT disease on the horizon

A potential new treatment strategy for patients with Charcot-Marie-Tooth disease is on the horizon, thanks to research by neuroscientists now at the University at Buffalo's Hunter James Kelly Research Institute and their colleagues in Italy and England.

29 Apr 2013

Parents must be considered during expansion of genetic screening programs for newborns

Parents must be considered when states decide to expand genetic screening programs for newborns, according to a new study that looked at mandatory testing panels and political pressure by advocacy groups.

22 Jun 2012

AHRQ grants U-M $2.5M to study long-term health outcomes and cost-effectiveness of newborn screening

University of Michigan researchers will use a $2.5 million grant from the Agency for Healthcare Research and Quality to study long-term health outcomes and cost-effectiveness of newborn screening.

2 Mar 2012

Brain stem cell treatment for multiple sclerosis

The prospect of doing human clinical trials with stem cells to treat diseases like multiple sclerosis may be growing closer, say scientists at the University at Buffalo and the University at Rochester, who have developed a more precise way to isolate stem cells that will make myelin.

15 Oct 2011

Rochester receives $1M FDA, BDRSA grant to begin first controlled clinical trial in Juvenile Batten disease

After years of building hope for a treatment, Rochester researchers and clinicians will begin the first controlled clinical trial for Juvenile Batten disease this summer, thanks to $1 million in grants from the Food and Drug Administration and the Batten Disease Support and Research Association.

1 Jun 2011

Shire's clinical study results for treatment of Gaucher disease to be presented at LDN World Symposium

Shire plc, the global specialty biopharmaceutical company, today announced that data from one of three Phase III clinical trials for velaglucerase alfa, the company's enzyme replacement therapy (ERT) in development for the treatment of Type 1 Gaucher disease, will be presented at the Lysosomal Disease Network (LDN) World Symposium, February 10-12, 2010 in Miami, Florida.

4 Feb 2010

Daval International receives award for its anti-inflammatory agent AIMSPRO

Following the provision of clinical and scientific data to the US Food and Drug Administration (FDA), privately owned UK company Daval International Limited (http://www.davalinternational.com) has been informed that its innovative anti-inflammatory agent AIMSPRO(R) has been awarded an Orphan-Drug designation for the treatment of Amyotrophic Lateral Sclerosis (ALS).

9 Nov 2009

New technique to treat metabolic disorders in babies while still in the womb

Researchers say a new development in cord blood transplants for inherited metabolic disorders may be curative for some babies who are treated while still in the womb.

20 Oct 2009

New hope for Batten disease sufferers

Investigators at the University of Rochester Medical Center have uncovered a promising drug therapy that offers a ray of hope for children with Batten disease – a rare neurodegenerative disease that strikes seemingly healthy kids, progressively robs them of their abilities to see, reason and move, and ultimately kills them in their young twenties.

3 Jan 2008