Lymphedema is a condition that can cause significant swelling of the upper and lower extremities due to the build-up of excess lymph fluid. This can occur when the lymphatic system, which is responsible for draining excess fluid from the body and is a key component of the immune system, is damaged or altered. In breast cancer patients, this can occur after surgery, such as removal or biopsy of the lymph nodes, and/or radiation therapy. It is estimated that six percent to 40 percent of patients with breast cancer develop lymphedema, and that it often occurs within the first two years after surgery. For some cancer survivors and others at risk, a low level lymphedema can occur 10 years to 15 years following the initial primary treatment and develop into a condition that has a serious impact on overall health and quality of life.
Using a new computational approach they developed to analyze large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues have discovered previously unknown genetic causes of three rare conditions: primary lymphedema (characterized by tissue swelling), thoracic aortic aneurysm disease, and congenital deafness.
Using a new computational approach they developed to analyze large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues have discovered previously unknown genetic causes of three rare conditions: primary lymphedema (characterized by tissue swelling), thoracic aortic aneurysm disease, and congenital deafness.
A sensor created by Johns Hopkins University graduate students to detect very early-stage lymphedema could spare thousands of patients a year, many women with breast cancer, from the painful, debilitating condition.
Researchers affiliated with the Center for Cell-Based Therapy (CTC) in Ribeirão Preto, Brazil, have identified for the first time a non-hereditary mutation in blood cells from a patient with GATA2 deficiency, a rare autosomal disease caused by inherited mutations in the gene that encodes GATA-binding protein 2 (GATA2).
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