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News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… team of researchers has identified genomic mutations for Carey-Fineman-Ziter (CFZS) syndrome, a very rare congenital myopathy (inherited muscle disorder) … National Institutes of Health Director Francis S. Collins, M.D., Ph.D., a co-author of the study. ( See related story …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… initially misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya … data-cke-saved-href="http://uugpgc.genetics.utah.edu/john-c-carey/" … href="http://uugpgc.genetics.utah.edu/john-c-carey/">John Carey, M.D.,</a> and two years later he and his colleagues …
Staff
Beth Tuck is the chief of the Education and Community Involvement Branch at NHGRI.
… Beth Tuck, M.A. … Beth Tuck (she/her) is the chief of the Education and … disorders. … Biography … Related Content … Beth Tuck, M.A. … Beth Tuck is the chief of the Education and Community …
Staff
Jenny Montooth is the social media specialist for the NHGRI Office of Communications.
… Jenny Montooth, M.A. … Jenny Montooth joined the National Human Genome Research … sequence. … Biography … Related Content … Jenny Montooth, M.A. … Jenny Montooth is the social media specialist for the …
Staff
Elena Ghanaim is the Policy Advisor for Data Science and Sharing within the Office of Genomic Data Science (OGDS) at the National Human Genome Research Institute (NHGRI)
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… (AnVIL) on policy matters. Within NHGRI, she holds a joint appointment in the Policy and Program Analysis Branch … Ms. Ghanaim graduated from Rutgers University in 2015 with a bachelor’s in Genetics and minors in Philosophy and … 2018. … Biography … Additional Resources … Elena Ghanaim, M.A. … Elena Ghanaim is the Policy Advisor for Data Science …
Staff
Rosann Wise is a program analyst in the Education and Community Involvement Branch at the National Human Genome Research Institute.
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… Rosann Wise is a program analyst at the National Human Genome Research … Involvement Branch (ECIB). In her role, Ms. Wise serves as a liaison to the general public, providing tools, resources … economics. … Biography … Related Projects … Rosann Wise, M.A. … Rosann Wise, genomics education, genomic literacy, …
Staff
​Christina R. Daulton is an education outreach specialist in the Education and Community Involvement Branch at the National Human Genome Research Institute.
… research partnerships in their communities. For more than a decade, Ms. Daulton was a researcher and policy analyst on higher education issues, … D.C. … Biography … Related Projects … Christina Daulton, M.A. … Christina Daulton, genomic literacy, genomics …
Staff
Ellen Rolfes is the director of the Division of Management at and executive officer of the National Human Genome Research Institute.
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… Institute in 1991. She was recruited to NHGRI in 1996 as a Human Resources Specialist. Later in her time at NHGRI, Ms. … University of Maryland, College Park. … Biography … Ellen M. Rolfes, M.A. … Ellen Rolfes, NHGRI budget, jobs at NHGRI, human …
Staff
Sarah Bates is the chief of the NHGRI Office of Communications.
… of NHGRI’s Office of Communications (OC). Previously, as a public affairs specialist for the National Science … English. … Biography … Related Projects … Sarah A. Bates, M.S., M.A. … Sarah Bates is the chief of the NHGRI Office of …
News Release
It’s teatime and doctors, researchers and patients are at the table. They celebrate a decade of work and launch the first in-human gene therapy trial for children with a rare and devastating disease, GM1 gangliosidosis.
… Teresa Carey, M.A. … It’s teatime and doctors, researchers and patients are …