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- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine. … Phenylketonuria … disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine. Phenylalanine … screening testing that is done shortly after birth on a blood sample (heel stick). However, PKU should be considered …
Educational Resources
Cancer is a group of diseases characterized by uncontrolled cell growth.
… History … Cancer is a disease in which some of the body’s cells grow uncontrollably. There are many different types of …
Educational Resources
A phenotype is an individual's observable traits, such as height, eye color, and blood type.
… observable traits, such as height, eye color, and blood type. … Gene, Heterozygous, Homozygous, Allele, Trait, … observable traits, such as height, eye color and blood type. A person’s phenotype is determined by both their … observable traits, such as height, eye color, and blood type. … Educational Resources …
Health FAQ
Discuss these questions with your doctor or health care provider.
… cell collection process for gene therapy. You may undergo blood transfusions for this period to replace your … Two to three months later you will have your stem cells collected.  Your stem cells will take seven to 10 … may stop the sickling of cells and improve the lifespan of red blood cells. It may reduce complications of sickled cells …
Educational Resources
Centrioles are paired barrel-shaped organelles located in the cytoplasm of animal cells near the nuclear envelope.
… organelles located in the cytoplasm of animal cells near the nuclear envelope. … Cell Biology, Organelles, … organelles located in the cytoplasm of animal cells near the nuclear envelope. Centrioles play a role in … organelles located in the cytoplasm of animal cells near the nuclear envelope. … Educational Resources …
Educational Resources
Endoplasmic reticulum is a network of membranes inside a cell through which proteins and other molecules move.
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… antigen receptors: surface immunoglobulins (Ig) on B cells, and T cell receptors (TCR) on T cells. Together with costimulatory molecules, these receptors … Disease Research Branch. … Pamela Schwartzberg, white blood cells, immune system, infection, immunization … Dr. …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… ask you to share your medical records and will send you a blood collection kit so that you can mail us some blood samples.   How often will I have to come to the NIH? … repeat your evaluation.  … A study exploring how prenatal blood test results for the baby might also detect cancer in …
Educational Resources
Cytoplasm is the gelatinous liquid that fills the inside of a cell. It is composed of water, salts, and various organic molecules.
Educational Resources
A tumor suppressor gene directs the production of a protein that is part of the system that regulates cell division.