News tagged with rare genetic disease
Stem cell researchers move toward treatment for rare genetic nerve disease
(Medical Xpress)—UCLA researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have used induced pluripotent stem cells (iPSC) to advance disease-in-a-dish modeling of a rare genetic ...
Diseases, Conditions, Syndromes
May 10, 2013 |
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A cautionary tale on genome-sequencing diagnostics for rare diseases
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. Properly diagnosing ...
Genetics
May 10, 2013 |
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Investigating devastating childhood diseases just got easier
Induced pluripotent stem cells (iPScs) from the skin of patients with Dravet syndrome (DS) show Dravet-like functional impairment when they are converted into neurons, finds research in BioMed Central's open ...
Medical research
May 01, 2013 |
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New subtype of ataxia identified
Researchers from the Germans Trias i Pujol Health Sciences Research Institute Foundation (IGTP), the Bellvitge Biomedical Research Institute (IDIBELL), and the Sant Joan de Déu de Martorell Hospital, has identified a new ...
Neuroscience
Apr 29, 2013 |
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New approaches in treating complicated childhood polycystic kidney disease
A collaborative team of physician-scientists at the Medical College of Wisconsin (MCW) and Children's Hospital of Wisconsin Research Institute has developed a new evidence-based, clinical algorithm to help physicians treat ...
Diseases, Conditions, Syndromes
Apr 26, 2013 |
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Gene controls three different diseases
An international research consortium led by the Universitat Autònoma de Barcelona (UAB), the CIBERER and the University of Wurzburg (Germany) has discovered a gene that can cause three totally different diseases, depending ...
Genetics
Apr 25, 2013 |
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Therapy helps regenerate child's undeveloped bones
Four years ago, Janelly Martinez-Amador was confined to a bed, unable to move even an arm or lift her head. At age 3, the fragile toddler had the gross motor skills of a newborn and a ventilator kept her ...
Diseases, Conditions, Syndromes
Apr 24, 2013 |
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Science of genome-sequencing marks 10 years
A decade after completion of the Human Genome Project on April 14, 2003, a top official of the National Institutes of Health surveyed the rarefied view from that mountaintop:
Genetics
Apr 15, 2013 |
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Alkaptonuria: New hope for treatment of rare genetic disease
(Medical Xpress)—Scientists at the University of Liverpool have found that a drug treatment administered at the earliest signs of a rare genetic disease could prevent the condition from developing in later ...
Arthritis & Rheumatism
Apr 04, 2013 |
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Scientists provide insights into incurable brain disease
(Medical Xpress)—Queensland Institute of Medical Research, Griffith University and University of Queensland scientists researching a degenerative brain disease have developed a new way to understand its progression and ...
Genetics
Mar 22, 2013 |
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Genomic screening to detect preventable rare diseases in healthy people
Experts from the UNC School of Medicine and the UNC Gillings School of Global Public Health propose that screening healthy adults for preventable diseases such as colorectal cancer, breast cancer, and several catastrophic ...
Genetics
Mar 06, 2013 |
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About 15 percent of patients with Wolfram syndrome do not meet current diagnostic criteria
Researchers at IDIBELL and CIBERER Virginia Nunes and Miguel López de Heredia have collected data from 400 patients with Wolfram syndrome published worldwide in the last fifteen years to better understand the natural history ...
Genetics
Feb 28, 2013 |
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EU releases 144 mn euro for new rare disease research
The European Union on Thursday pledged 144 million euros of fresh funding for research on rare diseases that currently affect some 30 million Europeans, the majority of them children.
Genetics
Feb 28, 2013 |
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Bionic eye gives hope to the blind
After years of research, the first bionic eye has seen the light of day in the United States, giving hope to the blind around the world.
Ophthalmology
Feb 05, 2013 |
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Mutations in ASXL3 cause problems similar to Bohring-Opitz syndrome
Mutations which affect the gene ASXL3 cause a novel syndrome similar to Bohring-Opitz syndrome, finds a study published in BioMed Central's open access journal Genome Medicine. This molecular definition distinguishes these ...
Genetics
Feb 04, 2013 |
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