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Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
Fact Sheet
Learn about the different types of hemoglobin.
… hemoglobin or HbF, is present in red blood cells before birth (during fetal development). After birth, a gene that codes for a blocking protein (BCL11A) is … a small amount of HbF continues to be produced after birth. Hemoglobin A , also known as adult hemoglobin or …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… forms of polycystic kidney disease. It is present at birth in 1 in 400 to 1 in 1,000 babies, and it affects … intracranial and aortic aneurysms, heart valve defects , and abdominal wall hernias. Hypertension is the …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… of genes, or genetics, into consideration only in cases of birth defects and a limited set of other diseases. These were …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… Board. He is a co-creator of the NHGRI electronic atlas of birth defects for diverse populations. Curriculum Vitae … Dr. … research has grown to include genetics of congenital heart defects. This collaborative study is currently enrolling …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… of these drugs to reduce the risk of having a baby with birth defects. Lower doses also improve the body's ability to heal …
Research Funding
The Knockout Mouse Phenotyping Project (KOMP2) collaborates with the International Mouse Phenotyping Consortium (IMPC) to knockout and characterize all protein-coding genes in the mouse genome.
… investigating more genes to find links between birth defects and childhood cancer. Illuminating the Druggable …
File
… PT, Chandiwana P, Mhandire K , Ziruma A, UZBCS the UZ Birth Cohort Study Team. Role of Antenatal Plasma … Transmission Among Mothers in the University of Zimbabwe Birth Cohort Study (UZBCS). Virol J. 2020. (Submitted). 22. … P, Kaisi D, Mujuru HA. Structural Congenital Birth Defects in New -Born Babies at Parirenyatwa Group of …
News Release
DNA Day Reddit “Ask Me Anything” prompts rousing discussion.
… of using CRISPR to modify an embryo resulting in a live birth, the only documented case is the recent revelation of …
The Genomics Landscape
In the February 12, 2021 edition of The Genomics Landscape, Dr. Eric Green talks about the 20-year anniversary of the publications that reported the draft human genome sequence.
… Severe COVID-19 in pregnancy associated with preterm birth, other complications Can Blood Thinners Keep Moderately … the genetic basis of childhood cancers and of structural birth defects: Gabriella Miller Kids First Pediatric Research …