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Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.

People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease (ESRD).

People with Alport syndrome frequently develop sensorineural hearing loss, which is caused by abnormalities of the inner ear, during late childhood or early adolescence. Affected individuals may also have misshapen lenses in the eyes (anterior lenticonus) and abnormal coloration of the light-sensitive tissue at the back of the eye (retina). These eye abnormalities seldom lead to vision loss.

Significant hearing loss, eye abnormalities, and progressive kidney disease are more common in males with Alport syndrome than in affected females. Alport syndrome occurs in approximately 1 in 50,000 newborns.
New preclinical study shows RG-012 may provide therapeutic benefit for Alport syndrome patients

New preclinical study shows RG-012 may provide therapeutic benefit for Alport syndrome patients

Regulus Therapeutics Inc., a biopharmaceutical company leading the discovery and development of innovative medicines targeting microRNAs, today announced that positive new preclinical data was presented on RG-012 for the treatment of renal dysfunction in Alport syndrome patients at the American Society of Nephrology's Kidney Week 2014 meeting being held November 11-16, 2014 in Philadelphia, PA. [More]

Regulus begins ATHENA study to monitor changes in renal function in Alport syndrome patients

Regulus Therapeutics Inc., a biopharmaceutical company leading the discovery and development of innovative medicines targeting microRNAs, announced today it has initiated its ATHENA natural history of disease study in patients with Alport syndrome, a life-threatening genetic kidney disease with no approved therapy. [More]
Scientists make human stem cells without working on human embryos

Scientists make human stem cells without working on human embryos

Stem cell research courts both controversy and support in the community- depending on your viewpoint. [More]
Stem cell treatments could repair the kidney defects associated with Alport syndrome

Stem cell treatments could repair the kidney defects associated with Alport syndrome

Several cell-based therapy approaches could provide new treatments for patients with Alport syndrome, reports an upcoming paper in the Journal of the American Society of Nephrology (JASN). "Our study opens up many considerations of how new therapies related to the use of stem cells can be devised for our kidney patients with chronic disease," comments Raghu Kalluri, MD, PhD (Harvard Medical School, Boston, MA). [More]
Flaw in bone's material leads to disease

Flaw in bone's material leads to disease

The weak tendons and fragile bones characteristic of osteogenesis imperfecta, or brittle bone disease, stem from a genetic mutation that causes the incorrect substitution of a single amino acid in the chain of thousands of amino acids making up a collagen molecule, the basic building block of bone and tendon. [More]
Fibroid tumors lack crucial structural protein

Fibroid tumors lack crucial structural protein

Fibroid tumors-the sometimes painful uterine growths affecting many American women-lack a key protein that plays a role in holding tissues together, according to a study by researchers from the Uniformed Services University of the Health Sciences (USUHS) and the National Institute of Child Health and Human Development of the National Institutes of Health [More]
Fibroid tumors affecting many American women lack a key protein helps hold tissues together

Fibroid tumors affecting many American women lack a key protein helps hold tissues together

Fibroid tumors — the sometimes painful uterine growths affecting many American women — lack a key protein that plays a role in holding tissues together, according to a study by researchers from the Uniformed Services University of the Health Sciences (USUHS) and the National Institute of Child Health and Human Development of the National Institutes of Health. [More]