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Progeria is a rare disease characterized by accelerated aging.
… Progeria … Progeria is a rare disease characterized by … accelerated aging. The classic form of progeria is called Hutchinson-Gilford progeria syndrome (HGPS), named for the doctors who …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… Syndrome … A syndrome is a collection of recognizable traits or … and are associated with a specific disease. … Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … A syndrome, as related to genetics, is a group of traits or …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… Down Syndrome (Trisomy 21) … Down syndrome is a genetic disease resulting from a chromosomal abnormality. … Genetic Disease, Down Syndrome, Trisomy, Chromsomes, Prenatal Screening … Down …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… Fragile X Syndrome … Fragile X syndrome is a hereditary disorder affecting mostly males. … … Y Chromosome, Genetic Disorder, Mutation … Fragile X syndrome is a genetic condition that affects a person’s …
Educational Resources
AIDS is a collection of symptoms known as acquired immunodeficiency syndrome.
… Acquired Immunodeficiency Syndrome (AIDS) … AIDS is a collection of symptoms known as acquired immunodeficiency syndrome. … RNA (Ribonucleic Acid), Retrovirus Virus … AIDS … collection of symptoms known as acquired immunodeficiency syndrome. It is caused by infection with the human …
… Progeria … Progeria is a rare disease characterized by … accelerated aging. The classic form of progeria is called Hutchinson-Gilford progeria syndrome (HGPS), named for the doctors who …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… have identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring … … The NIH group first encountered a patient with the syndrome approximately 10 years ago. The patient, then 3 … in blood vessel walls result. The researchers call the new syndrome, deficiency of ADA2, or DADA2. The enzyme ADA2 is …
Educational Resources
Monosomy refers to the condition in which only one chromosome from a pair is present in cells rather than the two copies usually found in diploid cells.
… … Monosomy, Chromosome, Diploid, Genetic Diseasem, Turner Syndrome, Cri Du Chat Syndrome … Monosomy refers to the condition in which only one … monosomy, causes certain human diseases such as Turner syndrome and Cri du chat syndrome. … Monosomy refers to the …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… behaviors. … Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, Developmental Disorder … Autism is a condition …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… three genes believed to be associated with long QT syndrome … Geneticists and heart specialists around the world had previously reported 17 genes to cause long QT syndrome, a little-known inherited heart condition. However, … as having limited or disputed evidence for causing the syndrome. Their results were published in Circulation , the …