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UrduAssistant Professor of Pharmaceutical Sciences Kuo-Ching (KC) Mei from Binghamton University, State University of New York and his team have won the $1.9M Maximizing Investigators’ Research Award (MIRA) for Early Stage Investigators (ESI) from the National Institute of General Medical Sciences to tackle gene therapy challenges.
Tag: Genetic Disease
New gene therapy for muscular dystrophy offers hope
The UW Medicine-led research focuses on delivering a series of protein packets inside a shuttle vector to replace the defective DMD gene within the muscles. The added genetic code will then start producing dystrophin, the protein lacking in patients with muscular dystrophy.
Scientists Share the Genomic Research Transforming Healthcare at 2024 CGM Symposium
The 120 attendees are using Utah’s uniquely strong genetics resources to answer fundamental biological questions and develop solutions to urgent issues in human health.
Pursuing Three Gene Therapies for Rare Inherited Disease
Researchers hope at least one will treat progressive blindness caused by Usher syndrome type 1F
Gene Mutations from Patients with Debilitating Seizure and Movement Disorder Created in Mice
Three genetic alterations associated with a rare seizure and a movement disorder primarily found in children were successfully mirrored in mice and their symptoms treated, in a new study from a University of Maryland School of Medicine researcher.
High-tech imaging reveals details about rare eye disorder
Using a new imaging technique, researchers from the National Eye Institute have determined that retinal lesions from vitelliform macular dystrophy (VMD) vary by gene mutation. Addressing these differences may be key in designing effective treatments for this and other rare diseases. NEI is part of the National Institutes of Health.
The Human Genome at Super Resolution
Five-year NIH grant funds new Center for Genome Imaging @ HarvardMed, three other institutions.
Genetic Cause of Neurodevelopmental Disorder Discovered
University of Maryland School of Medicine (UMSOM) researchers identified a new gene that may be linked to certain neurodevelopmental disorders and intellectual disabilities.
New Collection of Rett Syndrome Stem Cells Available from Coriell Institute for Medical Research
The Coriell Institute for Medical Research has added a new collection of stem cells to its biobank offerings. The new collection is a result of a collaboration between Coriell and the Rett Syndrome Research Trust (RSRT) and consists of 10 lines of human induced pluripotent stem cells created from blood donated by individuals with Rett syndrome.
Exercise offers ‘profound’ benefits for Friedreich’s ataxia, research suggests
A top exercise researcher is urging clinical trials of exercise in patients with Friedreich’s ataxia after finding that physical activity has a “profound” protective effect in mouse models of the debilitating genetic disease.
Essential key to hearing sensitivity discovered in inner ear
New research is shedding light on the biological architecture that lets us hear – and on a genetic disorder that causes both deafness and blindness.
FSU researchers help discover new genetic variants that cause heart disease in infants
Florida State University researchers working in an international collaboration have identified new genetic variants that cause heart disease in infants, and their research has led to novel insights into the role of a protein that affects how the heart pumps blood.
U of U Health Launches Rapid DNA Testing of Critically-Ill Newborns for Faster Diagnosis, Better Treatment
University of Utah Health today announced the launch of a project with a goal of quickly and accurately detecting genetic disorders among newborns in its neonatal intensive care unit (NICU). Clinicians believe that bringing precision medicine to the NICU will transform neonatal care, leading to better diagnosis and treatment of critically ill infants with genetic-related diseases while lowering medical costs and easing the emotional and financial burden on parents and families.
Summit Charts a Course to Uncover the Origins of Genetic Diseases
Gene mutations can interfere with how the body expresses genes and cause disease. To better understand this connection, researchers recently developed a model of the transcription preinitiation complex (PIC).