An unusual diagnosis made….but how do you treat it?
Many physician-scientists strive to address this through applied research. In this age of genetics and genomics we in Lebanon have to pull our own weight and contribute to medical and scientific progress. Support for research by our visionary OpenMinds board, made possible by the generosity of our donors has made this a reality. Work on the novel treatment, galactosylceramide, specific for the rare genetic disorder, CLN3 disease, has been licensed to SENEB, Inc. PhD student Sally El-Sitt had her work on a CLN3 mouse model presented both in Boston at the international NCL meeting and in Hamburg Germany at the NCL-Stiftung in Hamburg.Many physician-scientists strive to address this through applied research. In this age of genetics and genomics we in Lebanon have to pull our own weight and contribute to medical and scientific progress. Support for research by our visionary OpenMinds board, made possible by the generosity of our donors has made this a reality. Work on the novel treatment, galactosylceramide, specific for the rare genetic disorder, CLN3 disease, has been licensed to SENEB, Inc. PhD student Sally El-Sitt had her work on a CLN3 mouse model presented both in Boston at the international NCL meeting and at the NCL-Stiftung in Hamburg.
Improved longevity in CLN3 mice treated with GalCer
Our Sally El-Sitt in Hamburg at the NCL-Stiftung
Three novel compounds tested on cell lines derived from kids with the deadly neurogenetic disorders CLN1/2/3/5/6/8 showed effectiveness in preventing cell death and lowering the levels of toxic ceramide in them. CLN2 and CLN6 disease occur in Lebanon. The ASKC clinic gets numerous referrals of kids with CLN3, CLN2 and CLN6 disease from Syria, Iraq, Kuwait and the Ukraine.
Fadi Saadeh, an AUBMC 4th year medical student presented this work at the International NCL conference in Boston, and received a $ 1000 award from the Diana Tamari Sabbagh foundation for best scientific research for 2017. Based on this work a new patent application has just been submitted entitled: Functionalized Pyridine Carbamates with Enhanced Neuroprotective Activity. Inventors: Paul Trippier, Nihar Kinarivala, Rose-Mary Boustany (Texas Tech University and AUB). Application number 62/532,624. Filing date: 7/14/2017.
Flupirtine and two sister compounds block cell death in patient cells
Publications:
Silva Kourtian, Jihane Soueid, Nadine J. Makhoul, Dikran Richard Guisso, Maria Chahrour, and Rose-Mary N. Boustany. Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population. Scientific Reports. 2017; 7: 45336, 2017 Mar 30. doi: 10.1038/srep45336
Dahlia Saab, Monique Chaaya, Rose-Mary Boustany. Prevalence and correlates of Autism Spectrum Disorder: Lebanese cross-sectional study (BMC Pediatrics BPED-D-17-00353, 2017 in review).
Dikran Richard Guisso, Fadi S. Saadeh, Dahlia Saab (MPH), Joud El Deek, Sarah Chamseddine, Hadi Abou El Hassan, Ghidaa Majari, Rose-Mary Boustany. Association of autism with maternal infections, perinatal and other risk factors: a case-control study (JADD, in review 2017)
Ghazale H, Ramadan N, Mantash S, Zibara K, El-Sitt S Darwish H, Chamaa F, Boustany R-M, Mondello S, Abou-Kheir W, Soueid J, Kobeissi F. Docosahexanoic acid enhances the therapeutic potential of neonatal neural stem cells transplantation post-traumatic brain injury (in review Scientific Reports, 2017).
Nihar Kinarivala, Ronak Patel, Rose-Mary Boustany, Abraham Al-Ahmad and Paul C. Trippier. Discovery of Aromatic Carbamates that Confer Neuroprotective Activity by Enhancing Autophagy and Inducing the Anti-Apoptotic Protein Bcl-2 (Journal of Medicinal Chemistry, 2017 in review: jm-2017-011994).
Shbarou Rolla M, Boustany Rose-Mary, Daher Rose T, Pakdel Parisa El Eid Rozana, Noureddine Abir, Karam Pascale E. Non ketotic hyperglycinemia: 14-year experience in Lebanon. (in review to Pediatric Neurology, 2017)
Sally El-Sitt, Jihane Soueid, Jamal Al-Ali, Joelle Makoukji, Nadine Makhoul, Hayat Harati, Rose-Mary Boustany. Elevated ceramide levels in CLN3 deficient patients and Cln3Δex7/8 mice and a developmental comparison between wild type and Cln3Δex7/8 mice sera and brain (submitted, Neurobiology of Disease 2017).
Flupirtine and two sister compounds block cell death in patient cells
Publications: