• genome
  • Isolating the progeria gene is a major achievement for the medical research community," said Francis Collins, director National Human Genome Research Institute and senior author on the report. (cnn.com)
  • gene
  • The Progeria Research Foundation and the National Institutes of Health announced Wednesday that scientist were able to isolate the gene within just a year of beginning research. (cnn.com)
  • According to researchers, progeria is caused by a single-letter misspelling in a gene on chromosome 1. (cnn.com)
  • Werner syndrome ATP-dependent helicase" also known as DNA helicase, RecQ-like type 3 is an enzyme that in humans is encoded by the WRN gene. (wikipedia.org)
  • Werner syndrome is caused by mutations in the WRN gene. (wikipedia.org)
  • More than 20 mutations in the WRN gene are known to cause Werner syndrome. (wikipedia.org)
  • Later, this gene was identified by researchers from Duke University as the gene coding for the enzyme superoxide dismutase, which is involved in Down syndrome and some cases of Amyotrophic Lateral Sclerosis (ALS, also known as Lou Gehrig's disease). (wikipedia.org)
  • true representation
  • He also showed that Progeria is a true representation of aging with respect to cellular signaling pathways, and truly recapitulates the normal aging process at the cellular level. (wikipedia.org)
  • disease
  • Progeria is a disease which the body's natural aging process is dramatically accelerated. (wordpress.com)
  • John Tacket, who has progeria syndrome, says he is just a regular guy who is "very content" even though he knows his disease is fatal. (cnn.com)
  • The discovery not only gives hope to children and families affected by progeria, but also may shed light on the phenomenon of aging and cardiovascular disease. (cnn.com)
  • They included isolation of the genes for Huntington's disease, neurofibromatosis, multiple endocrine neoplasia type 1, inv(16) AML and Hutchinson-Gilford progeria syndrome. (wikipedia.org)
  • Disorders
  • In recent years Tischfield's research has turned to the genetic basis neuropsychaitric disorders such as Autism, Tourette syndrome and Obsessive Compulsive Disorder, three disorders on which he has coauthored publications. (wikipedia.org)
  • cells
  • This ultimately leads to an embryo within the womb to develop progeria genes and cells, and the condition sets in the moment the child is born, until he/she passes away during the teenage years. (healthfitnessresource.com)
  • normal
  • Some of the significantly altered pathways that reveal the similarity between Progeria and normal aging are the Caspase cascade main pathway, Growth Hormone main pathway, MAPK main pathway, and Transcription main pathway. (eurekalert.org)
  • Infants who were born with this syndrome appear to be normal at birth. (hubpages.com)
  • reveal
  • Mouse models of nucleotide-excision-repair syndromes reveal a striking correlation between the degree to which specific DNA repair pathways are compromised and the severity of accelerated aging, strongly suggesting a causal relationship. (wikipedia.org)
  • extremely rare
  • There is also the extremely rare and poorly understood "Syndrome X," whereby a person remains physically and mentally an infant or child throughout one's life. (wikipedia.org)