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.

Miglustat shows promise for cystic fibrosis

Miglustat is a drug currently under phase 2 clinical trials on patients suffering from cystic fibrosis (1). Its potential for treating the disease was discovered in 2006 thanks to the work of Frédéric Becq's team at the Institute of Cell Physiology and Biology (CNRS/Université de Poitiers), funded by the associations Vaincre la Mucoviscidose, MucoVie66, La Pierre Le Bigaut and ABCF2.

21 Jul 2009

Genetic source of muscular dystrophy blocked

Researchers at the University of Rochester Medical Center have found a way to block the genetic flaw at the heart of a common form of muscular dystrophy. The results of the study, which were published today in the journal Science, could pave the way for new therapies that essentially reverse the symptoms of the disease.

17 Jul 2009

New research tool – map of genomic variation for diagnosing and identifying genetic problems

Genetics researchers have unveiled a powerful new resource for scientists and health providers studying human illnesses -- a reference standard of deletions and duplications of DNA found in the human genome. Drawn from over 2,000 healthy persons, the study provides one of the deepest and broadest sets of copy number variations (CNVs) available to date, along with a new research tool for diagnosing and identifying genetic problems in patients.

15 Jul 2009

Embryonic stem cells used to create human sperm

Human sperm have been created using embryonic stem cells for the first time in a scientific development which will lead researchers to a better understanding of the causes of infertility.

9 Jul 2009

Discovery of key gene for bone development that when mutated lead to dwarfism

Scientists have just discovered the gene behind Recessive Omodysplasia, a rare skeletal disease characterised by short-limbed dwarfism and craniofacial anomalies.

9 Jul 2009

Bioethicists lead call for public debates on future uses of stem cells

More than 40 scientists, bioethicists, lawyers and science journal editors are calling on their colleagues, policy makers and the public to begin developing guidelines for the research and reproductive use of stem cell-derived eggs and sperm, even though such use may be a decade or more away.

2 Jul 2009

New test detects genetic and chromosomal abnormalities in embryos - ready for clinical trials

One-step screening for both genetic and chromosomal abnormalities has come a stage closer as scientists announced that an embryo test they have been developing has successfully screened cells taken from spare embryos that were known to have cystic fibrosis.

30 Jun 2009

Women with cystic fibrosis can have safe and successful fertility treatment

Women with cystic fibrosis can have fertility treatment to help them have babies without any long-term adverse effects on either themselves or their children, according to new research presented at the 25th annual meeting of the European Society of Human Reproduction and Embryology in Amsterdam today (Tuesday).

30 Jun 2009

Research shows it is possible to freeze embryos and reduce multiple pregnancies in PGD cycles without adversely affecting pregnancy rates

Transferring just one embryo at a time to a woman's womb after embryos have undergone preimplantation genetic diagnosis (PGD) and freezing at the blastocyst stage has become a real option after researchers achieved pregnancy rates that were as good as those for blastocysts that had not had a cell removed for PGD before freezing. Their results mean that it will be possible to reduce the number of multiple pregnancies after PGD and the consequent complications associated with these pregnancies.

30 Jun 2009

Women warned not to wait too long to have a baby

Women are being warned that they should consider starting a family before the age of 35 or they will risk missing out on motherhood.

21 Jun 2009

Scientists create pig stem cells

Scientists have managed to induce cells from pigs to transform into pluripotent stem cells - cells that, like embryonic stem cells, are capable of developing into any type of cell in the body. It is the first time in the world that this has been achieved using somatic cells (cells that are not sperm or egg cells) from any animal with hooves (known as ungulates).

2 Jun 2009

Wilson disease and excess copper are focus of new NIDDK publication

Wilson disease, a rare but potentially serious condition that causes the buildup of too much copper in the body, is explained in a new fact sheet from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) at the National Institutes of Health (NIH).

1 Jun 2009

Combination of gene therapy and induced pluripotent stem cells cure human genetic disease in vitro

A study led by researchers at the Salk Institute for Biological Studies, has catapulted the field of regenerative medicine significantly forward, proving in principle that a human genetic disease can be cured using a combination of gene therapy and induced pluripotent stem (iPS) cell technology. The study, published in the May 31, 2009 early online edition of Nature, is a major milestone on the path from the laboratory to the clinic.

31 May 2009

Cohesin protein disrupts gene function in Cornelia deLange syndrome

An international team of scientists studying a rare genetic disease discovered that a bundle of proteins with the long-established function of keeping chromosomes together also plays an important role in regulating genes in humans.

26 May 2009

Nervous system may be culprit in Pompe disease

Brain may win out over brawn as the primary cause of breathing problems in children with a severe form of muscular dystrophy known as Pompe disease.

25 May 2009

Inflammation clue to fragile bones in Duchenne's muscular dystrophy

Inflammation could contribute to bone loss in Duchenne's muscular dystrophy (DMD), a discovery made by a group of Italian researchers. Dr Anna Rufo and her colleagues found that levels of an inflammatory molecule, known as IL-6, are high in patients with DMD.

25 May 2009