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Health FAQ
Discuss these questions with your doctor or health care provider.
… you are taking, your response to other treatments and your general health. To determine your eligibility, you … as part of the screening process. … If you are eligible and decide to receive  gene therapy, your clinical team and … effect and influence the activity of nearby cancer-causing genes, which could lead to the development of cancer. Experts …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood. The … patient, then 3 years old, experienced fevers, skin rash and strokes that left her severely disabled. Because there … the NIH group did not at first suspect a genetic cause, and treated the patient with immunosuppressive medication. …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… as phenylalanine. Phenylalanine comes from a person's diet and is used by the body to make proteins. Phenylalanine is found in all food proteins and in some artificial sweeteners. Without dietary treatment, … classic PKU include seizures, developmental delay, and autism. Boys and girls who have classic PKU may also have …
Educational Resources
Gregor Mendel was an Austrian monk who in the 19th century worked out the basic laws of inheritance, even before the term "gene" had been coined.
… before the term "gene" had been coined. … Gregor Mendel, Genes, Human Genetics, Inheritance … Gregor Mendel was an … down from one generation to the next — namely, dominant and recessive traits. Mendel’s early experiments provided 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.
… 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.. … Deoxyribonucleic acid …
Educational Resources
LOD stands for "logarithm of the odds." In genetics, the LOD score is a statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located near each other on a chromosome.
… the LOD score is a statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located near each other … the LOD score is a statistical estimate of whether two genes, or a gene and a disease gene, are likely to be located …
News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… Philip Shaw, Ph.D., a senior investigator at the Social and Behavioral Research Branch of the National Human Genome … a very solid place to start." Dr. Shaw said. Knowing which genes are associated with ADHD set the foundation for Shaw to understand how  the genes act on the brain to bring about ADHD. Shaw and his team …
Fact Sheet
Sickle cell disease resources for patients
… About Sickle Cell Disease   Centers for Disease Control and Prevention Sickle Cell Disease   American Society of …  American Society of Hematology (ASH)  … Gene Therapy and Sickle Cell Disease (video)  American Society of Gene & … What’s the Difference Between Gene Therapy, Cell Therapy and Gene Editing? (video) American Society of Gene & Cell …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… … When the National Human Genome Research Institute and the National Heart, Lung, and Blood Institute launched … investigators have made significant inroads in discovering genes underlying Mendelian conditions. In studying nearly … sequencing. The exome includes all the protein-coding genes in the genome. Proteins are the work horse of the cell, …
News Release
The Encyclopedia of DNA Elements (ENCODE) Project has created a detailed resource on the letters of life, DNA, identifying genes and regions that may regulate genes in the human and mouse genomes.
… third phase offers new insights into the organization and regulation of our genes and genome … The Encyclopedia of DNA Elements (ENCODE) … and mouse genomes that appear to regulate when and where genes are turned on, and a new registry that assigns a …