Genetics

Genetic mutation increases one's susceptibility to mesothelioma

New research has found that individuals born with inherited mutations of the "BLM gene' are more susceptible to developing mesothelioma, especially upon exposure to asbestos. The study was conducted by University of Hawaiʻi ...

Diabetes

Study shows shorter people are at higher risk of type 2 diabetes

Short stature is associated with a higher risk of type 2 diabetes, according to a new study in Diabetologia (the journal of the European Association for the Study of Diabetes).Tall stature is associated with a lower risk, ...

Medical research

Defective degradation enzyme triggers hereditary storage diseases

In rare hereditary storage diseases such as Sandhoff's disease or Tay-Sachs syndrome, the metabolic waste from accumulating gangliosides cannot be properly disposed of in the nerve cells because important enzymes are missing. ...

Genetics

Tracing the history of aggrecan gene mutations

On Sunday, April 28, a team of researchers received the 2019 Human Growth Award at the Pediatric Endocrine Society's Annual Meeting for their abstract, entitled "Clinical Characterization and Trial of Growth Hormone in Patients ...

Diseases, Conditions, Syndromes

New guidelines to diagnose, manage rare endocrine disorders

International guidelines have been published for the first time to help doctors around the globe diagnose and manage patients with a very rare set of endocrine diseases known as pseudohypoparathyroidism and its related disorders, ...

Medications

Mepsevii approved for rare enzyme disorder

(HealthDay)—Mepsevii (vestronidase alfa-vjbk) has been approved by the U.S. Food and Drug Administration to treat a rare, genetic disorder called mucopolysaccharidosis type VII, sometimes called Sly syndrome.

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