The first diseases which benefited from gene therapy are rare genetic diseases in which the gene responsible had been identified, specifically severe immune deficiencies. (afm-telethon.com)
Many diseases, including many rare genetic diseases, are caused by defects or deficits in proteins expressed by liver cells. (modernatx.com)
Children with suspected rare genetic diseases usually undergo a battery of tests to determine a molecular diagnosis. (sciencedaily.com)