Humans normally have 46 chromosomes (23 pairs) in each cell. Two copies of chromosome 22, one copy inherited from each parent, form one of the pairs. Chromosome 22 is the second smallest human chromosome, spanning about 50 million DNA building blocks (base pairs) and representing between 1.5 percent and 2 percent of the total DNA in cells.
In 1999, researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. Chromosome 22 was the first human chromosome to be fully sequenced.
Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 22 likely contains between 500 and 800 genes.
Genes on chromosome 22 are among the estimated 20,000 to 25,000 total genes in the human genome.
Genetics experts from The Children's Hospital of Philadelphia (CHOP) are among the top leaders of a major international collaboration researching why patients with chromosome 22q11.2 deletion syndrome have an elevated risk of schizophrenia and other psychiatric illnesses.
Scientists at the Centre for Addiction and Mental Health (CAMH) and University Health Network (UHN) have found a new link between early-onset Parkinson's disease and a piece of DNA missing from chromosome 22. The findings help shed new light on the molecular changes that lead to Parkinson's disease.
Chronic Myelogenous Leukemia (CML) is a cancer of the white blood cells that is most commonly found in adults and in the elderly. Its incidence has been estimated to be 1 to 2 in 100,000 people. CML was the first cancer to be associated with a genetic abnormality, known as the Philadelphia Chromosome, which 95% of all CML patients carry in their cells.
Today, the Royal College of Surgeons in Ireland (RCSI) will host a two day International Brain and Behaviour Consortium meeting on Chromosome 22q11.2 Deletion Syndrome (22q11.2DS).
More patients could be diagnosed earlier with non-alcoholic fatty liver disease after a cohort study presented at the International Liver Congress 2013 identified variants within four genes significantly associated with the histological features of the disease.
Research out of the George Washington University (GW), published in the journal Proceedings of the National Academy of Sciences (PNAS), reveals another piece of the puzzle in a genetic developmental disorder that causes behavioral diseases such as autism.
The discovery of a 'switch' that modifies a gene known to be essential for normal heart development could explain variations in the severity of birth defects in children with DiGeorge syndrome.
Donna McDonald-McGinn, M.S., CGC, associate director of Clinical Genetics and program director of the "22q and You" Center at The Children's Hospital of Philadelphia, received the Angelo DiGeorge Medal of Honor on July 6 at the 8th Biennial International 22q11.2 DS Conference in Lake Buena Vista, Florida. Ms. McDonald-McGinn, who began her career at CHOP in 1985, is the second person to receive this highly esteemed honor.
Researchers at the Stanford University School of Medicine have for the first time sequenced the genome of an unborn baby using only a blood sample from the mother.
Ewing's sarcoma is a bone cancer commonly diagnosed in about 250 U.S. teenagers per year. If early chemotherapy is effective, improvement can be durable. But for children and teens who respond poorly to a first attempt at chemotherapy or if the disease spreads, long-term survival can be less than 10 percent.
In an important test of one of the first drugs to target core symptoms of autism, researchers at Mount Sinai School of Medicine are undertaking a pilot clinical trial to evaluate insulin-like growth factor (IGF-1) in children who have SHANK3 deficiency (also known as 22q13 Deletion Syndrome or Phelan-McDermid Syndrome), a known cause of autism spectrum disorder (ASD).
A healthy genome is characterized by 23 pairs of chromosomes, and even a small change in this structure - such as an extra copy of a single chromosome - can lead to severe physical impairment. So it's no surprise that when it comes to cancer, chromosomal structure is frequently a contributing factor, says Prof. Ron Shamir of the Blavatnik School of Computer Science at Tel Aviv University.
The Eunice Kennedy Shriver National Institute of Child Health & Human Development, part of the National Institutes of Health, has awarded researchers at Albert Einstein College of Medicine of Yeshiva University and collaborators at the Children's Hospital of Philadelphia (CHOP) a five-year, $6.7 million grant to study the genetics of both rare and common congenital heart abnormalities known as conotruncal defects.
Two new research studies published in Biological Psychiatry point to progressive abnormalities in brain development that emerge as vulnerable individuals develop schizophrenia.
Over the past decade, significant advances have been made in the treatment of leukemia through the ongoing development of gene-based targeted therapies. Research that will be presented today at the 52nd Annual Meeting of the American Society of Hematology provides greater understanding of the optimal use of several BCR-ABL inhibitors for the treatment of acute lymphoblastic leukemia and chronic myeloid leukemia, and how a new gene target functions for several myeloid malignancies.
In celebration of a seminal discovery in cancer biology, Fox Chase Cancer Center will host the Philadelphia Chromosome Symposium: Past, Present and Future, on September 28, 2010, from 8 a.m. to 7 p.m. at The Chemical Heritage Foundation, 315 Chestnut Street, Philadelphia. The event marks the 50th anniversary of the discovery of the first genetic abnormality associated with cancer, and the first to lead to a targeted therapy for cancer.
Researchers at Massachusetts General Hospital found that patients with nonalcoholic fatty liver disease (NAFLD) who carry an allele of the PNPLA3 gene have an increased risk of developing advanced disease, including nonalcoholic steatohepatitis (NASH), fibrosis, and cirrhosis. A second study supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) validates these findings and further concludes that in pediatric patients, the same allele is associated with earlier disease presentation.
Researchers at Massachusetts General Hospital found that patients with nonalcoholic fatty liver disease (NAFLD) who carry an allele of the PNPLA3 gene have an increased risk of developing advanced disease, including nonalcoholic steatohepatitis (NASH), fibrosis, and cirrhosis. A second study supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) validates these findings and further concludes that in pediatric patients, the same allele is associated with earlier disease presentation. Both studies are available in the September issue of Hepatology, a journal published by Wiley-Blackwell on behalf of the American Association for the Study of Liver Diseases (AASLD).
A genetics research team based at The Children's Hospital of Philadelphia continues to discover recurrent translocations—places in which two chromosomes exchange pieces of themselves. As many as 1 in 600 persons carry balanced chromosome translocations, which involve no loss or gain of DNA. Most such people appear healthy, but may have a child with abnormal chromosome composition and disabilities resulting from disrupted, extra or missing copies of genes.
Kidney disease is a growing public health problem, with approximately half a million individuals in the United States requiring dialysis treatments to replace the function of their failed kidneys. The problem is particularly acute among African-Americans, whose rates of kidney disease are four times higher than those of European Americans.
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