Sentences with phrase «genetic disease»

The European Medicines Agency (EMA) has granted «orphan designation» to BMS 204352 (1), a molecule developed by the CNRS to treat Fragile X Syndrome, a rare genetic disease for which there exists no treatment.

Now, a new study suggests the drug may also ease the symptoms of a genetic disease called hereditary hemorrhagic telangiectasia — a discovery that could guide researchers to novel therapies for HHT and other vascular diseases.

Those situations could be limited to couples who both have a serious genetic disease and for whom embryo editing is «really the last reasonable option» if they want to have a healthy biological child, says committee co-chair Alta Charo, a bioethicist at the University of Wisconsin in Madison.

The rare genetic disease isn't fully understood, but now a similar condition has been found in Great Danes.

It is the most common fatal genetic disease affecting Canadian children and young adults.

Professor Thrasher says: «This is a very powerful example of how gene therapy can offer highly effective treatment for patients with complex and serious genetic disease.

About 10 %, or 50 patients, have been fully diagnosed with a genetic disease and about 30 % have a partial diagnosis, says UDP Director William Gahl of the National Human Genome Research Institute.

Dogs Provide Insight Into Rare Genetic Disease Centronuclear myopathy weakens skeletal muscles so severely that sufferers often die before age 18.

While she was there, the team discovered a gene that played an important role in Rubinstein - Taybi syndrome, a genetic disease that can cause skeletal abnormalities and mental retardation in patients.

The findings are a major step towards developing a stem cell replacement therapy for muscle diseases including Duchenne Muscular Dystrophy, which affects approximately 1 in 5,000 boys in the U.S. and is the most common fatal childhood genetic disease.

The fatal genetic disease, which affects 30,000 Americans, can be caused by hundreds of different protein mutations.

Some couples with genetic disease in their families will choose cloning as a way of avoiding what they regard as «reproductive roulette.»

«The general approach of looking at copy number variation as the cause for genetic disease has probably taken one of those exponential — it's probably hyper --- exponential leaps,» he says.

Editing the genomes of human embryos for a therapeutic use — for example, to eradicate a genetic disease — is illegal in the United Kingdom, but research work is possible under licence from the Human Fertilisation and Embryology Authority (HFEA).

It also demonstrates for the first time in humans that POF and azoospermia, a disorder that impedes normal sperm production, are probably the two faces of the same genetic disease.»

«We attacked the problem from the biology of the genetic disease, and we think we've actually found what might be a shared pathway for kidney failure — and a potential way to treat it.»

A DRUG has improved lung function in children with cystic fibrosis, raising hopes that the life - threatening damage caused by the genetic disease can be halted or even reversed.

«Those threatened by invasive diseases may be able to acquire genetic disease - resistance.»

The group's paper, published in tomorrow's issue of The New England Journal of Medicine, is the first report of a new genetic disease to come out of NIH's 3 - year - old Undiagnosed Diseases Program.

Mitochondrial DNA replacement therapy could help some families avoid passing on genetic disease

«We were very surprised to find that 35 percent of that population of patients had a genetic disease,» says Vilar - Sanchez, «although we hypothesized the proportion would be higher in this age group relative to the general population.»

«It's very controversial,» says Arthur Beaudet, a pediatrician and genetic disease expert at Baylor College of Medicine.

Fewer people than expected are demanding screening for cystic fibrosis, according to the first studies in the US into how testing for the genetic disease should be carried out.

Five children with a genetic disease that wipes out their immune system have successfully been treated with gene therapy

And it delivered a particularly cruel message to Kennedy: That his deeply cherished sense of himself and his community might never be proved, and the origins of the rare genetic disease that nearly killed him might never be known.

There is much more future work to be done and further improvements are still needed, but this research represents one small step closer to a possible treatment for this devastating genetic disease.

The test could reveal severe genetic disease, as well as a child's eye color, and someday perhaps even height, intelligence, or athletic ability.

Scientists at the Max Planck Institute for Molecular Genetics in Berlin have found seven new genes that can cause this genetic disease: Mutations of these genes on the X chromosome lead to various forms of intellectual disability.

Osteogenesis imperfecta is a genetic disease that affects an estimated 20,000 to 50,000 people in the United States, about 1 in 20,000 live births.

The next morning the Genetic Disease Branch placed phone calls, unsuccessfully to the Muelders and to their pediatrician.

Dr. Le, who holds the Thomas L. Shields, M.D. Professorship in Dermatology, said he and his researchers serendipitously uncovered this explanation for balding and hair graying while studying a disorder called Neurofibromatosis Type 1, a rare genetic disease that causes tumors to grow on nerves.

Dicerna Pharmaceuticals, meanwhile, is preparing to enter the clinic with an RNAi drug that treats primary hyperoxaluria — a rare genetic disease that causes the overproduction and buildup of substances called oxalates in the urine.

Thalassaemia is the world's most common genetic disease and is caused by mutations in one or both of the genes that code for haemoglobin.

«While germline genome editing could theoretically be used to prevent a child being born with a genetic disease, its potential use also raises a multitude of scientific, ethical, and policy questions.

«It highlights the fact that these medicines can really be transformative, turning off production of genetic disease.»

The dogs were chosen because they have inherited a genetic disease caused by the same gene defect as some patients with human retinitis pigmentosa.

T cells, dendritic cells, and mesenchymal stromal cells are under investigation in CVPF clinical trials in various cancers, HIV infection, and genetic disease.

«This embryo gene correction method — if proven safe — can potentially be used to prevent transmission of genetic disease to future generations,» says study co-author Paula Amato.

Prader - Willi syndrome (PWS) is a rare genetic disease characterized by hyperphagia — a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, often leads to excessive eating and obesity in patients with the disease.

Traditionally, geneticists have hunted down genes by tracking the inheritance of a genetic disease through large families or by searching for suspected problematic genes among patients.

The group's statement, however, did not permanently rule out such gene editing of the germline, presumably to prevent the transmission of genetic disease from a parent to child.

The study is «a beautiful example of the use of isolated populations to study human genetic disease,» observes geneticist Val Sheffield of the University of Iowa in Iowa City, but he cautions that it's premature to talk about a cure for the disease.

«Duchenne muscular dystrophy is a stem cell disease: Study paves the way for new treatments for devastating genetic disease.»

But Haker contended that parents with genetic disease should consider adoptions or other options instead.

A new therapy could restore healthy and protective skin to patients with a rare genetic disease.

Cystic fibrosis is the most common fatal genetic disease among Caucasians.

A 7 - year - old who lost most of his skin to a rare genetic disease has made a dramatic recovery after receiving an experimental gene therapy, researchers announced today.

Lupus is considered a genetic disease and is triggered not only by inhaling crystalline silica toxicants, but also by other environmental factors such as sun exposure.

In humans, it holds the promise of curing genetic disease, while in other organisms it provides methods to reshape the biosphere for the benefit of the environment and human societies.

For instance, researchers at the Salk Institute in California have taken skin cells from a patient with the genetic disease Fanconi's anemia, often associated with leukemia.