Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

European Rare Diseases Therapeutic Initiative could provide an important new mechanism for developing new drugs

Because of the very high costs in developing drugs for rare genetic diseases, and the low return on investment, the pharmaceutical industry has rarely developed specific treatments for many of these diseases.

23 Aug 2005

First study to test the role of RNA chemical modifications on immunity

The investigators published their findings in the August issue of Immunity. "We think this study will open a new area of research in understanding how our immune systems protect us," says Weissman.

23 Aug 2005

New technique for creating human embryonic stem cells

Researchers have developed a new technique for creating human embryonic stem cells by fusing adult somatic cells with embryonic stem cells. The fusion causes the adult cells to undergo genetic reprogramming, which results in cells that have the developmental characteristics of human embryonic stem cells.

22 Aug 2005

First proof of how the rare disorder Fanconi anemia causes chromosomal instability

The scientists found a gene mutation not previously known to be related to Fanconi anemia, and they say that BRIP1 is the first gene associated with the disease whose protein has a known function.

22 Aug 2005

Discovery of new gene FANCM sheds light on repair of damaged DNA

National Institute on Aging (NIA) researchers have discovered a new gene, FANCM, which sheds light on an important pathway involved in the repair of damaged DNA.

22 Aug 2005

Protein p53 is the "guardian" of our genome

When DNA damage is present, p53 stops cell division and gives the cell enough time to repair it. If the damage is irreparable, the protein sets off programmed cell death and protects the cells from degeneration.

7 Aug 2005

First evidence that complex genetic interactions account for autism risk

Using a novel analysis of the interactions among related genes, Duke University Medical Center researchers have uncovered some of the first evidence that complex genetic interactions account for autism risk. The Duke team found that the brain mechanism that normally stops or slows nerve impulses contributes to the disease.

3 Aug 2005

Scientists use gene transfer to prevent retinoschisis

University of Florida scientists used a healthy human gene to prevent blindness in mice with a form of an incurable eye disease that strikes boys.

2 Aug 2005

Controlling the expression of genes by turning them on or off could produce a drug for the treatment or cure of almost any disease

A new technique aimed at directly controlling the expression of genes by turning them on or off at the DNA level could lead to drugs for the treatment or cure of many diseases, say researchers at UT Southwestern Medical Center.

1 Aug 2005

Study findings will help early detection and treatment of hyperglycemic diabetes

In a groundbreaking population-based study, researchers in Mayo Clinic Cancer Center found that new onset of hyperglycemic diabetes in adults age 50 or older may be a signal of underlying pancreatic cancer.

1 Aug 2005

Defect in the mechanics of motors that build tiny cellular hairs is the basis of Bardet-Biedl syndrome

A defect in the mechanics of motors that build tiny cellular hairs is the basis of a serious genetic disorder, according to researchers at UC Davis and Simon Fraser University, Canada.

1 Aug 2005

Gene that regulates normal embryonic development is found at high levels in virtually all forms of breast cancer

A gene that appears to help regulate normal embryonic development is found at high levels in virtually all forms of breast cancer, according to a new study led by Laszlo Radvanyi, Ph.D., associate professor of breast and melanoma medical oncology at The University of Texas M. D. Anderson Cancer Center.

25 Jul 2005

New insight into age-related macular degeneration

Age-related macular degeneration is the leading cause of blindness in older adults, yet researchers are still in the dark about many of the factors that cause this incurable disease.

25 Jul 2005

Variations in the gene for protein kinase C beta 1 (PRKCB1) strongly associated with autism

This exciting finding suggests some answers to a number of previous, but unexplained, observations about autism and provides the potential for a mechanistic explanation for some of the characteristics of the condition. The results of the study are published today in the journal Molecular Psychiatry.

18 Jul 2005

Expert says newborn health screening inconsistent throughout the U.S.

According to the March of Dimes, although every state requires newborn babies to receive health checks, requirements vary widely among the individual states.

13 Jul 2005

Researchers find genetically controlled brain mechanism responsible for social behavior in humans

Researchers at the National Institute of Mental Health (NIMH) have discovered a genetically controlled brain mechanism responsible for social behavior in humans--one of the most important but least understood aspects of human nature.

13 Jul 2005

Possible cure for Huntington's disease

Boosting levels of two critical proteins that normally shut down during Huntington's disease, researchers at the University of Wisconsin-Madison and the Cold Spring Harbor Laboratory have cured fruit flies of the genetic, neurodegenerative condition.

12 Jul 2005

Every baby born in the United States should receive screening for a uniform panel of 29 disorders

Expanded newborn screening is now required by law in dozens of states, but most infants still are not covered by the full panel of 29 tests recommended by experts, according to the March of Dimes 2005 state-by-state report card on newborn screening.

12 Jul 2005

Congenital central hypoventilation syndrome (CCHS) offers clues to SIDS, sleep apnea

Imagine raising a child who stops breathing when falling asleep - and has to be reminded to visit the bathroom after drinking a Big Gulp. That's the dilemma faced by parents of children born with congenital central hypoventilation syndrome (CCHS).

11 Jul 2005

Researchers discover genetically controlled brain mechanism responsible for social behavior in humans

Researchers at the National Institute of Mental Health (NIMH) have discovered a genetically controlled brain mechanism responsible for social behavior in humans - one of the most important but least understood aspects of human nature. The findings are reported in Nature Neuroscience.

11 Jul 2005

Genetic Disorder News and Research

Further Reading

European Rare Diseases Therapeutic Initiative could provide an important new mechanism for developing new drugs

First study to test the role of RNA chemical modifications on immunity

New technique for creating human embryonic stem cells

First proof of how the rare disorder Fanconi anemia causes chromosomal instability

Discovery of new gene FANCM sheds light on repair of damaged DNA

Protein p53 is the "guardian" of our genome

First evidence that complex genetic interactions account for autism risk

Scientists use gene transfer to prevent retinoschisis

Controlling the expression of genes by turning them on or off could produce a drug for the treatment or cure of almost any disease

Study findings will help early detection and treatment of hyperglycemic diabetes

Defect in the mechanics of motors that build tiny cellular hairs is the basis of Bardet-Biedl syndrome

Gene that regulates normal embryonic development is found at high levels in virtually all forms of breast cancer

New insight into age-related macular degeneration

Variations in the gene for protein kinase C beta 1 (PRKCB1) strongly associated with autism

Expert says newborn health screening inconsistent throughout the U.S.

Researchers find genetically controlled brain mechanism responsible for social behavior in humans

Possible cure for Huntington's disease

Every baby born in the United States should receive screening for a uniform panel of 29 disorders

Congenital central hypoventilation syndrome (CCHS) offers clues to SIDS, sleep apnea

Researchers discover genetically controlled brain mechanism responsible for social behavior in humans

Genetics & Genomics - Second Edition eBook

Achieving and maintaining ISO 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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