Scientists now have clues to how a gene mutation discovered in families affected with congenital heart disease leads to underdevelopment of the walls that separate the heart into four chambers. A Nationwide Children's Hospital ...
Jun 26, 2012
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The first known identification of two genes responsible for hypoplastic left heart syndrome (HLHS), a severe congenital heart defect, has been reported by researchers at the University of Pittsburgh School of Medicine. The ...
May 22, 2017
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Primary immunodeficiency disorders (PID) can result in chronic and sometimes life-threatening infections. More than 450 PIDs have been described, but timely and accurate diagnoses remain a challenge. In a new study in The ...
May 23, 2022
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Scientists have discovered a new genetic disease, which causes some children's brains to develop abnormally, resulting in delayed intellectual development and often early onset cataracts.
Mar 31, 2021
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(Medical Xpress)—In a first-of-its-kind study published in the journal Nature, scientists identified a group of gene mutations that may be behind up to 10 percent of complex congenital heart defects, the most frequent birth ...
Jul 24, 2013
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Mom's eyes and dad's tumor? Cancer is due to genetic defects, some of which can be hereditary. The gene variant rs351855, for example, occurs in one in two cancer patients. It supports the growth of a variety of tumors that ...
Dec 17, 2015
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(Medical Xpress)—The genetic malady known as Fragile X syndrome is the most common cause of inherited autism and intellectual disability. Brain scientists know the gene defect that causes the syndrome and understand the ...
Jun 4, 2013
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Every year, thousands of babies are born with severely malformed hearts, disorders known collectively as congenital heart disease. Many of these defects can be repaired though surgery, but researchers don't understand what ...
May 12, 2013
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A genetic test developed in a study at the University of Helsinki and Helsinki University Hospital identifies ovarian cancer patients who benefit from PARP inhibitors, a treatment option.
Jan 11, 2023
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Identical twin toddlers who presented with severe arthritis helped scientists to identify the first gene mutation that can single-handedly cause a juvenile form of this inflammatory joint disease. By investigating the DNA ...
Jan 24, 2019
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