Posts Categorized: Part 02: PERSPECTIVES



Drugs for rare conditions

Posted by & filed under Part 02: PERSPECTIVES, Part 03: GENERAL THEMES, Websites.

J Intern Med. 2006 Jul;260(1):1-10. A journey of hope: lessons learned from studies on rare diseases and orphan drugs. Wastfelt M, Fadeel B, Henter JI.   This article gives interesting insights on the development of orphan drugs for rare disorders. It also contains a list of great websites.   Thank you very much in advance […]



Liver transplantation for inborn errors of metabolism

Posted by & filed under Part 02: PERSPECTIVES, Part 03: GENERAL THEMES, Part 08: AMINO ACIDS, Part 09: ORGANIC ACIDS.

This articles provides an overview and discussion on an important area of the treatment of inborn errors of metabolism. Transplantation. 2005 Sep 27;80(1 Suppl):S135-7. Liver transplantation for inborn errors of metabolism. Meyburg J, Hoffmann GF.   Thank you very much in advance for your contributions to this blog (Click on login to register and post […]



High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening

Posted by & filed under Newborn screening, Part 02: PERSPECTIVES, Part 16: LYSOSOMAL DISORDERS.

Am. J. Hum. Genet., 79:000, 2006 High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tukel, Geetha Thiagarajan, Hitoshi Sakuraba, Alberto Ponzone, and Robert J. Desnick In this article, alpha-galactosidase A activity was assayed in newborn screening blood spots of Italian male neonates. This study revealed a […]



Therapeutic gene causing lymphoma

Posted by & filed under Part 02: PERSPECTIVES, Part 20: IMMUNE AND DEFENSE SYSTEMS.

Nature. 2006 Apr 27;440(7088):1123. Gene therapy: therapeutic gene causing lymphoma. Woods NB, Bottero V, Schmidt M, von Kalle C, Verma IM. 3 children who underwent gene therapy for X-linked Severe Combined Immunodeficiency (X-SCID),using therapeutic administration of the IL2RG gene, developped T-cell leukaemia. In this article, the investigators conducted long term studies in a murine moodel […]



Treatment strategies for hereditary disorders

Posted by & filed under Part 02: PERSPECTIVES, Part 03: GENERAL THEMES.

Nature Reviews Genetics 7, 261-276 (April 2006) Focus on: Monogenic disorders Genetic medicines: treatment strategies for hereditary disorders Timothy P. O’Connor and Ronald G. Crystal This great review focuses on the barriers to overcome for the effective treatment of monogenic disorders in the years to come. For more information on the treatment of inherited disorders, […]