Latest Research

Rare LCHAD Disorder Means Two-Year-Old Must Eat Every Hour

11/09/2015

Date: 
11/09/2015

November 9, 2015 By Ilana Jacqueline Leave a Comment

To all the new parents struggling to feed their newborn every two to three hours, imagine having to do it every hour—for years. Such is reality for the Torti family in Tennessee, whose son, Owen, now 23 months, was diagnosed with the rare metabolic disorder…

Prader-Willi Patients Have New Opportunity to Enter Clinical Trial

11/10/2015

Date: 
11/10/2015

November 10, 2015 By Ilana Jacqueline Leave a Comment

Late for lunch, not enough for dinner–we may think we’re familiar with the sensation of hunger, but for patients with Prader-Willi Syndrome, hunger is a whole different animal. The complex genetic disease shows it’s first signs with weak muscle tone, delayed development and poor growth.…

Centers for Mendelian Genomics Uncovering the Genomic Basis of Hundreds of Rare Conditions

10/27/2015

Date: 
10/27/2015

When the Centers for Mendelian Genomics (CMGs) program was launched nearly four years ago, it was charged with the ambitious task of identifying the genomic underpinnings of as many Mendelian conditions as possible. CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions, while also uncovering new, previously unknown conditions and learning important details about the development of many others that scientists had described before.

See more information on this news item.

https://rarediseases.info.nih.gov/news-and-events/news/453

Seven-year Effort Offers Insight to Lou Gehrig’s Disease

01/23/2012

Date: 
01/23/2012

In a discovery many neurobiologists once thought too farfetched to accept, a protein known to help sperm move toward eggs during conception of the worm C. elegans appears to play a central role in Lou Gehrig’s disease.

FDA Approves Continuation of ALS Stem Cell Trial

10/24/2011

Date: 
10/24/2011

Emory University researchers have received approval from the Food and Drug Administration (FDA) to advance to the next phase of a landmark trial to treat patients with Amyotrophic Lateral Sclerosis (ALS) using human neural stem cells.

Approximately One-Third of MS Patients Experiencing Relapses Do Not Adequately Respond to Traditional Corticosteroid Therapy

10/21/2011

Date: 
10/21/2011

On October 21 at the 5th Joint Congress of the European and Americas Committees for Treatment and Research in Multiple Sclerosis (ECTRIMS/ACTRIMS), results were presented from a survey conducted by NARCOMS which found that about one-third of patients experiencing MS relapses do not adequately respond to corticosteroid treatment. The survey included over 2,000 patients with MS who had experienced relapses and were treated with either intravenous (IV) or oral corticosteroids.

Researchers work to treat blood clot condition

09/27/2011

Date: 
09/27/2011

By Savannah Stegall

UCF and UF earn medical grant

UCF is making a name for itself in the field of medicine with a little help from a $5.5 million grant.

The National Institutes of Health granted UCF and the University of Florida money for their partnered science research study on hemophilia A and B. These were joint applications by Dr. Henry Daniell's, UCF, and Dr. Roland Herzog's, UF, labs for funding. One of the two applications was in response to a request by the NIH for applications in bioengineering research partnerships.

Adeona Announces Completion of Planned Enrollment in Phase II Multiple Sclerosis Clinical Trial

09/20/2011

Date: 
09/20/2011

Adeona Pharmaceuticals, Inc., a developer of innovative medicines for serious central nervous system diseases, announced today that the 150th patient has been enrolled in the randomized, double-blind, placebo-controlled, multi-center clinical trial of its Trimesta™ (oral estriol) drug candidate for relapsing-remitting multiple sclerosis (MS) in women, per the original protocol.

Local donations lead to breakthrough in ALS research

09/16/2011

Date: 
09/16/2011

by: Samantha Brix

A common cause for Amyotrophic Lateral Sclerosis (ALS) has been identified in breakthrough research from Northwestern University, which was funded partially through funds raised by Stony Brook-based Ride for Life.

Teepu Siddique, who led the study and has been searching for a cure since 1985, said a common cause for the neurodegenerative disease is the breakdown of cellular recycling systems in the neurons of the spinal cord and brain, resulting in the nervous system slowly losing its ability to carry brain signals to the muscular system.

UCF lands two NIH grants worth $5.5 million for hemophilia research

09/12/2011

Date: 
09/12/2011

By Marni Jameson

An innovative UCF scientist has helped land two NIH grants totaling $5.5 million, the University of Central Florida announced Friday. The National Institutes of Health funding will be used to research a better treatment for hemophilia, the life-threatening blood disorder.

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