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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.
… from a three-year effort by the Moebius Syndrome Research Consortium with support from NIH and the Moebius Syndrome … congenital facial weakness disorders. Toward this end, the consortium brought 63 people to the NIH Clinical Center … Carey, Irini Manoli M.D. Ph.D., Moebius Syndrome Research Consortium, Moebius syndrome Foundation, CRISPR-Cas9 …
About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
… The NHGRI-funded Human Pangenome Reference Consortium has released a high-quality collection of human … from the @genome_gov -funded Human Pangenome Reference Consortium ( @HumanPangenome ) have completed a collection of … group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human …
News Release
This publication and the release of the accompanying data address knowledge gaps across genomics and are certain to have a continuing impact in the field.
… field. Geographical regions and populations of origin for H3Africa whole genome sequence (WGS) data. The size of the … including the TrypanoGEN Research Group and the H3Africa Consortium. Notably, African researchers and African …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… current Chair of the Genome Analysis working group of the H3Africa Consortium and an NIH Distinguished Scholar. … The CCDGS … (AAS) known as the Human Health and Heredity in Africa (H3Africa) Consortium. The goals of the consortium are to …
News Release
NIH will fund grants totaling $38 million over five years to develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities.
… Prabarna Ganguly, Ph.D. … New consortium will include six study sites and one coordinating … not effective when used in diverse populations. The new consortium, called PRIMED , will pool genomic information … of Genomic Medicine at NHGRI. “This is an area where the consortium’s work will be critical.” The consortium will also …
Research Funding
The Encyclopedia of DNA Elements (ENCODE) Pilot Project launched in September 2003 to identify all functional elements in the human genome sequence.
… Research Institute (NHGRI) launched a public research consortium named the Encyclopedia of DNA Elements (ENCODE) in … was announced by the International Human Genome Sequencing Consortium ( Finishing the euchromatic sequence of the human … proposed to create a highly interactive public research consortium to carry out a pilot project for testing and …
News Release
Charles Rotimi, Ph.D., was awarded the Academy Medal for Distinguished Contributions in Biomedical Science by the New York Academy of Medicine. This honor, established in 1929, recognizes investigators with sustained and impactful accomplishments in biomedical research and an interest in translating these findings to advance human health.
… is now known as the Human Heredity and Health in Africa (H3Africa) Initiative . H3Africa, which started wrapping up in 2022, had 10 successful years that involved a consortium of nearly a thousand members and trainees in more …
Staff
Dr. Charles Rotimi is the scientific director of and NIH Distinguished Investigator in the Division of Intramural Research. He also serves as the director of the Center for Research on Genomics and Global Health (CRGGH).
… establishment of the Human Heredity and Health in Africa (H3Africa) initiative with $76 million commitment from the NIH and Wellcome Trust. H3Africa created a support network of labs that conduct … the Meta-analysis of T2D in African Americans (MEDIA) Consortium that has performed meta-analysis of 17 genome-wide …
Research Funding
The Genotype-Tissue Expression (GTEx) Project will create a resource that researchers can use to study how inherited changes in genes lead to common diseases
… On Sept. 11, 2020, the final set of analyses from the GTEx Consortium were published in Science . The latest GTEx data … while other eQTLs affect genes in many tissues. The GTEx consortium has also built an eQTL web-browser ( … and regulated in different tissues. In 2020, the GTEx Consortium published its final set of studies analyzing …
News Release
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations.
… introduced the Human Heredity and Health in Africa (H3Africa) program. H3Africa supports African scientists conducting research on … in Africa. Credit: Joseph Sohm, Shutterstock.com Yet, for H3Africa researchers, the path forward has not been without …