Search Results
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… the process that replicates and then divides up the pairs of chromosomes during cell division, resulting in the inheritance of an extra full or partial copy of chromosome 21 from a parent. This extra chromosomal DNA …
News Release
Small businesses with NHGRI grants were instrumental in contributing to the completion of the human genome sequence, redefining the future of genomics.
… grants were instrumental in contributing to the completion of the human genome sequence, redefining the future of genomics. … resume was unusual. His previous work painted him as more of an inventor and entrepreneur than an academic. Even before … shorter the DNA sequences, the greater the chances that errors could be introduced into the final assembled sequence. …
Media Advisory
Researchers from the NIH-funded Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature Portfolio journals and Genome Research. The papers and the briefing are under embargo until May 10, 2023, at 11 a.m. E.T.
… Researchers from the National Institutes of Health-funded Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature Portfolio journals … new human pangenome reference, a high-quality collection of reference human genome sequences, captures significantly …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… bleeding problems, developmental delays, and malformations of the bones of the rib cage. … bleeding problems, developmental delays, and malformations of the bones of the rib cage. Noonan syndrome is caused by changes in one … Symptoms of Noonan syndrome may include the following: A …
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.
… Consortium has released a high-quality collection of human genome reference sequences, which together comprise … reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… for Research on Genomics and Global Health (CRGGH), part of National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH). Dr. Doumatey received her Bachelor’s and Master’s from the Department of Biochemistry, at the University Claude Bernard, Lyon, …
Talking Glossary
Mosaicism refers to the presence of cells in a person that have a different genome from the body’s other cells.
… Mosaicism refers to the presence of cells in a person that have a different genome from the … Mosaicism refers to the presence of cells in a person that have a different genome from the … genomic variant, for example, or the addition or loss of a chromosome. The condition can stem from a genetic error …
Policy Issues
Genome editing is a method that lets scientists change the DNA of many organisms, including plants, bacteria, and animals.
… editing is a method that lets scientists change the DNA of many organisms, including plants, bacteria, and animals. … diseases that affect humans. They edit the genomes of animals, like mice and zebrafish, because animals have many of the same genes as humans. For example, mice and humans …
Staff
Antwi-Boasiako Oteng is a Research Fellow at the Center for Research on Genomics and Global Health.
… in pre-clinical models to characterize the function of novel genes whose variants associate with cardiometabolic … received a BSc in Biochemistry in 2011 from the University of Ghana, an MSc in Molecular Life Science in 2014 from … University, Netherlands, and a PhD in Molecular Nutrition, Metabolism and Genomics in 2019 from Wageningen University. …
Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your overall health and quality of life.
… can have a strong impact on your physical health. Because of this, it’s important to care for your mental and physical … Reflect on what kind of support system you will need. Your support system will … Let them know about the possible risks and complications of the procedures in the trial. Here are some questions that …