News tagged with rare disease
Renaissance in new drugs for rare diseases
Once famously described as "orphan diseases, too small to be noticed, too small to be funded" in the Hollywood drama Lorenzo's Oil, rare diseases are getting unprecedented attention today among drug manufacturers, ...
Medications
May 13, 2013 |
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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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FDA approves Procysbi for nephropathic cystinosis
(HealthDay)—Procysbi (cysteamine bitartrate) delayed-release capsules have been approved by the U.S. Food and Drug Administration to treat nephropathic cystinosis in children (6 years and up) and adults. ...
Medications
May 02, 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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New study explores role of social responsibility in drug development
(Medical Xpress)—Though pharmaceutical companies that are developing "orphan drugs" do so mainly for the business potential, the companies also consider the effort as part of their corporate social responsibility, ...
Medications
Apr 01, 2013 |
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RARE-Bestpractices: Researching rare diseases
Clinical research needs to optimise its agenda by taking into consideration both patients' and clinicians' needs and interests. This is the goal of a four-year project funded by the EU's Seventh Framework ...
Other
Apr 01, 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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Studies for approval of new drugs have insufficient patients to evaluate safety
For medicines intended for chronic use, the number of patients studied before regulatory approval is insufficient to properly evaluate safety and long-term efficacy, requiring the need for new legislation, according to a ...
Medications
Mar 19, 2013 |
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