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News Release
NIH and collaborators identify the genomic cause for Carey-Fineman-Ziter syndrome
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 … disease 35 years after it was first described by Dr. John Carey and colleagues from the University of Utah," said … of the study. ( See related story and video of Dr. Carey and a family affected by CFZS ). "This discovery will …
News Release
Decades after rare disease diagnosis, family and physician hail genomic breakthrough
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… 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 … described and named the children's very rare disease, Carey-Fineman-Ziter syndrome (CFZS). Thirty-five years later, …
News Release
NHGRI-ASHG fellowships fulfill critical need in science policy and education
The Genetics and Public Policy and Genetics and Education Fellowships provide a pathway for scientists to pursue careers in science policy or education.
… within those realms. The ASHG-NHGRI 2016-2017 Fellows Teresa Ramírez, Ph.D. (left) and Christa Wagner, Ph.D. … The 2016-2017 fellows, Christa Wagner, Ph.D. (policy), and Teresa Ramírez, Ph.D. (education), are just finishing their … studying the bioethical implications of genomic research. Teresa: My first rotation was in NHGRI's Education and …
News Release
How do you toast a gene therapy trial? With tea.
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 …
News Release
To build a goldfish, start with a blueprint
Scientists drafted the blueprint for how to build a common goldfish. Now they'll use it to find out what gives ornamental goldfish their nuanced features, gaining insight into human health.
… Teresa Carey, M.A. … Scientists drafted the blueprint for how to …
News Release
Dr. Ellen Sidransky recognized for unique insight in Parkinson's research
When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
… Teresa Carey, M.A. … When Dr. Ellen Sidransky, 2019 winner of the …
News Release
DNA tests stand on shaky ground to define Native American identity
Researchers at the National Institutes of Health (NIH) question advertisements by direct-to-consumer genetic ancestry kits that claim to know what it really means to be American Indian.
… Teresa Carey, M.A. … Researchers at NHGRI question advertisements by …
News Release
Sarah Bates Named NHGRI Communications Chief
Sarah Bates has been named the new chief of the Communications and Public Liaison Branch at the National Human Genome Research Institute.
… Teresa Carey, M.A. … Sarah Bates has been named the new chief of the …
News Release
Linking genes to ADHD by mapping connections in the brain
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… Teresa Carey, M.A. … When it comes to …
Staff
Heidi J. Sofia, Ph.D.
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
… Cell Systems,  6(3): 271-281. 2018  [PubMed] Cabili MN, Carey K, Dyke SOM, Brookes AJ, Fiume M, Jeanson F, Kerry G, … 5. 2018 [ PubMed ] Wang S, Jiang X, Tang H, Wang X, Bu D, Carey K, Dyke SOM, Fox D, Jiang C, Lauter K, Malin B, Sofia … 2017 [ PubMed ] Raisaro JL, Tramèr F, Ji Z, Bu D, Zhao Y, Carey K, Lloyd D, Sofia H, Baker D, Flicek P, Shringapure S, …