Genetics

Reports of high-impact genetics studies by medical professionals

Adherence to a Mediterranean diet linked to longer telomere length

1. Women who more closely followed a Mediterranean-style diet had longer telomeres. 2. Individual components of the Mediterranean diet were not associated with telomere length,...

Key mutations may protect against coronary artery disease

1. Genetic mutations that led to the inactivation NPC1L1, a lipid transporter protein, were linked to lower low-density lipoprotein (LDL) and total cholesterol levels....

Extraordinary response, and resistance, to everolimus in thyroid cancer pinned to mutations

1. A metastatic anaplastic thyroid cancer with inactivation of tumor suppressor gene TSC2 and overactivation of the mammalian target of rapamycin (mTOR) pathway proved...

2 Minute Medicine Rewind September 22 – September 29, 2014

In this section, we highlight the key high-impact studies, updates, and analyses published in medicine during the past week. Ebola Virus Disease in West Africa...

Decrease in sedentary lifestyle associated with longer telomere length

1. Reduced time spent sitting by elderly individuals was significantly associated with telomere lengthening in blood cells. 2. Increases in time spent exercising was...

Transfusion therapy linked with reduced neurovascular disease in sickle cell anemia

1.  In children with sickle cell anemia and silent infarcts, the incidence of recurrent infarcts was significantly lower in the blood transfusion group compared...

Exome sequencing potentially valuable in diagnosing familial cerebellar ataxias

1. Clinical exome sequencing (CES) is a method of analyzing the protein-encoding genes of an entire genome.  2. CES may be a high-yield diagnostic method...

Marked decline in cystic fibrosis-related mortality over 10 years

1. From 2000 to 2010, adjusted mortality for cystic fibrosis (CF) patients dropped by 17% (1.8% per year). 2. Median survival for those born with...

PALB2 mutations shown to be important risk factor for breast cancer

1. Women with PALB2 mutations were 4 to 9 times more likely to be diagnosed with breast cancer when compared to the general population.  2....

Proposed need for regulation of direct-to-consumer genetic testing

1. Direct to consumer genetic tests have increased in popularity due to technology, access, and affordable cost, and present both benefits and risks to...

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