tag:blogger.com,1999:blog-2186593343917545414.post6643401118762887449..comments2024-03-10T12:29:30.004-07:00Comments on pediatric neurology: Sam Berns a"hGalen Breningstall, MDhttp://www.blogger.com/profile/07170864203251456228noreply@blogger.comBlogger3125tag:blogger.com,1999:blog-2186593343917545414.post-28615293606117373422016-03-31T10:45:30.640-07:002016-03-31T10:45:30.640-07:00https://www.youtube.com/watch?v=s17MeetmWfM
https:...https://www.youtube.com/watch?v=s17MeetmWfM<br />https://www.youtube.com/watch?v=zy1khIdgcyc<br />https://www.youtube.com/watch?v=yEwsqeDw7yg<br />https://www.youtube.com/watch?v=Fekab9Pu2us<br /><br />And many moreGalen Breningstall, MDhttps://www.blogger.com/profile/07170864203251456228noreply@blogger.comtag:blogger.com,1999:blog-2186593343917545414.post-4042539422822131652016-03-31T10:35:16.582-07:002016-03-31T10:35:16.582-07:00Even if a syndrome is recognized, like progeria, t...Even if a syndrome is recognized, like progeria, there are huge barriers to research, illustrated by Sam Berns’ case. Sam was born in 1996, and diagnosed with progeria at 22 months. His parents, Drs. Scott Berns and Leslie Gordon, both physicians, formed the Progeria Research Foundation (PRF) in 1999, in response to his illness. Gordon subsequently completed an MD-PhD program and has since devoted herself to research on her son’s disease, working closely with NIH, through it's director, Dr. Francis Collins.<br /><br />The Progeria Foundation has made remarkable progress since then, through this collaborative process. In 2002, the PRF Genetics Consortium was formed; they succeeded in identifying the gene for progeria, in part through their development of a PRF Cell and Tissue Bank, just 10 months later. This single gene mutation leads to an inner nuclear membrane protein, called Lamin A, to be produced abnormally, and a farnesyl group can’t be cleaved. The resultant abnormal protein, called progerin, causes persistent farenesylation, or accumulation of this protein on the nuclear rim. This leads to distortion of the nucleus of cells and abnormal development, resulting in cells being unable to divide normally and to the cell’s premature aging.<br /><br />Astonishingly, PRF funded and coordinated the first clinical trial of a treatment for progeria, using a drug called lonafarnib, a farnesyltransferase inhibitor (FTI), which inhibits this process. FTI had been shown to prevent cardiovascular disease —the major cause of death in children with progeria—in young mice and to reverse disease somewhat in older ones. The trial included 28 children—75% of the world’s population with the disease at that time, including Sam Berns. His mother, Leslie Gordon, was the lead author on the report announcing the first potential treatment of progeria, with some patients showing modest improvement in weight gain, cardiovascular, and bone disease.<br /><br />Since then, other targets for treatment are under study. A triple drug trial is in progress, combining drugs for the targets shown: lonafarnib (FTI inhibitor, pravastatin, and zoledronic acid, a bisphosphonate. (The latter drugs have been marketed for some years for treatment of elevated cholesterol and osteoporosis, respectively). Rapamycin (sirolimus), a macrolide antibiotic used as an immunosuppressant, is also being explored, as it removes progerin from the cell’s nuclear membrane.<br /><br />http://blogs.scientificamerican.com/molecules-to-medicine/rare-diseases-in-honor-of-sam-berns/Galen Breningstall, MDhttps://www.blogger.com/profile/07170864203251456228noreply@blogger.comtag:blogger.com,1999:blog-2186593343917545414.post-61702044894821181322016-03-31T10:24:58.116-07:002016-03-31T10:24:58.116-07:00My philosophy for a happy life. Sam Berns, a 17 ye...My philosophy for a happy life. Sam Berns, a 17 year old with progeria.<br /><br />https://www.youtube.com/watch?v=36m1o-tM05gGalen Breningstall, MDhttps://www.blogger.com/profile/07170864203251456228noreply@blogger.com