Sentences with phrase «caused by the genetic disease»

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.

Not exact matches

(Reuters)- Alnylam Pharmaceuticals Inc's RNAi - based drug that targets a rare genetic disease met the main goal of a key study, in a breakthrough for the new class of medicines that works by blocking disease - causing proteins.

The Human Genome Project, not long ago completed at a cost of $ 3 billion, was often presented by its promoters as opening the way to discovering the ultimate genetic causes of all diseases, thus setting the stage for their cure.

Birth defects are caused by genetic anomalies, diseases and toxins ingested / consumed by the mother during pregnancy.

Such an attention getting event might be the simultaneous and overnight, 1) world wide total and permanent remission of all cancers, 2) world wide regeneration of limbs of all amputees, 3) world wide total cessation of sëx trafficking human abuse, 4) world wide total cessation of child abuse, 5) world wide cessation of all hostilities, 6) world wide sudden curing of diseases cause by genetic defects.

The Leopoldina, Germany's national academy of sciences, has published a report strongly recommending that preimplantation genetic diagnosis of early embryos be allowed by law when couples know they carry genes that could cause a serious incurable disease if passed on to their children.

Genetic mutations could occur at which could elevate their potential for causing widespread harm, thus close observation by contagious disease specialists is merited.

Some prion diseases are caused by an inherited genetic mutation, while others are caused by exposure to infectious prions in food.

«Given this mechanism, ataluren offers the potential for a new therapeutic approach for multiple nonsense mutation genetic disorders by targeting the underlying cause of the disease.»

Huntington's disease is a genetic neurodegenerative disorder caused by the expansion of a CAG repeat in the HD gene.

Alpha -1-antitrypsin deficiency (A1ATD) is the most common genetic disease of the liver, and is caused by a single nucleotide change in the gene that codes for alpha -1-antitrypsin (A1AT), an enzyme inhibitor that normally protects bodily tissues.

The children and adults travel from as far as Australia, Africa and Mongolia to see her, because she is one of the few dermatologists in the world who specializes in the rare and perplexing genetic disease that causes their skin to be disfigured by redness and dark scales across their entire bodies.

«Too much of this building block due to SAMHD1 deficiency caused by genetic mutations can lead to autoimmune diseases and help cancerous tumors grow.

It was previously shown by others that a rare disease called generalized pustular psoriasis (in which the skin erupts into pustules) was caused by a genetic mutation that resulted in unrestrained activity of a protein normally produced in our skin, called IL - 36.

Huntington's disease is an inherited genetic disorder caused by mutations in the gene that encodes huntingtin protein.

The disease is caused by a genetic mutation that leads to abnormal clumps of protein in the brain, eventually resulting in the atrophy and death of nerve cells.

In genetic studies conducted by gene researchers at the University of Helsinki, the gene defect causing the disease was found in the COL7A1 gene.

Muscular dystrophy is a term used to describe many different muscular diseases caused by genetic defects.

We intend to follow up this work by trying to get yet more detail on the prevalence of such mutations as well as by testing for these events in other tissues; most genetic investigations are performed only in blood, so we may have missed some disease - causing mutations by not testing elsewhere,» Dr Gilissen will conclude.

Concerns have been stirred by reports of research in China to correct disease - causing genetic mutations in non-viable embryos in 2015 and the granting, by the Human Fertilisation and Embryology Authority (HFEA), of a licence to allow genome editing of embryos in the UK February 2016.

Muscular dystrophy, a disease caused by a genetic mutation on the X chromosome, primarily affects boys and comes in several varieties.

Sickle cell disease is a recessive genetic disorder caused by a single mutation in both copies of a gene coding for beta - globin, a protein that forms part of the oxygen - carrying molecule hemoglobin.

«The fact that the genetic code can simultaneously write two kinds of information means that many DNA changes that appear to alter protein sequences may actually cause disease by disrupting gene control programs or even both mechanisms simultaneously,» said Stamatoyannopoulos.

The researchers studied a form of the condition called Charcot - Marie - Tooth disease type 2A, which is caused by specific genetic mutations.

Academic research into the cause of the disease went into a 20 - year stall, punctuated in 2006 by a press conference in which Reeves and the CDC's director at the time, Julie Gerberding, announced what they portrayed as a breakthrough discovery: CFS was caused by a genetic predisposition to difficulty responding to stress.

They do their dirty work by infiltrating bacteria, including disease - causing germs, and destroying them from within: After latching onto bacteria, the phages bore inside and hijack the bacteria's genetic machinery, turning them into phage factories that eventually make so many copies that the cells burst, killing off the host.

FSHD is an unusual genetic disorder because, unlike most genetic diseases, it is not caused by the loss of a functional gene, but rather by the modification of an existing gene, through a genetic mutation.

A team of scientists led by Virginia Commonwealth University physicist Jason Reed, Ph.D., have developed new nanomapping technology that could transform the way disease - causing genetic mutations are diagnosed and discovered.

The disease is caused by a genetic mutation that prevents a protein required to keep muscle cells intact from being produced.

Up to that time, genetic counseling had mainly focused on rare diseases caused by a single genetic fault, and psychiatric disorders were not an obvious fit.

And even if such a demand existed, there was no evidence that genetic counseling could help patients with psychiatric disorders, which — like most of the more common diseases — are caused by a complex interplay of multiple genes and variants as well as environmental factors.

The team first created embryos with genetic mutations that caused two different diseases: β - thalassemia and favism (an anemia caused by eating fava beans).

Both De Luca and Marinkovich's teams are exploring a similar gene therapy for another major form of the disease, called dystrophic EB, caused by a different genetic error affecting a larger protein.

But DNA is only part of the story; many genetic diseases are caused by problems with RNA, a working copy of DNA that is translated into proteins.

Defective genes can be caused by mutations in either the maternally - inherited mitochondrial genome (mtDNA) or more frequently, the genes located on the autosomes, the 23 pairs of chromosomes which are responsible for all traits and all other genetic diseases.

Over the next few years, similar maternal blood tests could detect hundreds of diseases caused by chromosome abnormalities or mutations, including cystic fibrosis, sickle cell anemia, Tay - Sachs disease, and genetic deafness and blindness.

Bloomfield said updating the ELN recommendations was prompted by new insights into the molecular and genomic causes of the disease, by the development of new genetic tests and tests for detecting minimal residual disease and by the development of novel anti-leukemic agents.

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

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.

Although the disease appears to be caused by a genetic defect, it doesn't run in families, suggesting that the mutation occurs randomly in egg or sperm cells or at some point after fertilization.

The price of genetic knowledge can be high because of the anxiety caused by the knowledge of a propensity for a disease that has no known treatment or cure, or that may never appear.

Genetic variability of Plasmodium falciparum underlies its transmission success and thwarts efforts to control disease caused by this parasite.

For genetic diseases such as Huntington's disease — an incurable neurodegenerative disease caused by a well - recognized defective gene — simply cutting out the disease - causing DNA sequence seems like it could be the ultimate cure.

Hypopituitarism can be caused by tumors, genetic defects, brain trauma, immune and infectious diseases, or radiation therapy.

Pompe disease is a genetic disorder caused by the absence or deficiency of alpha - glucosidase, an enzyme required to break down the complex carbohydrate glycogen and convert it into glucose.

It turned out that, in some people with a specific genetic variant, the vaccine, Pandemrix, caused narcolepsy and this generated a lot of discussion as to whether other autoimmune diseases may be induced by the vaccine.

In reality, those diseases are probably caused by a wide variety of extremely rare mutations that vary from one person to the next, complicating efforts to understand and treat them at the genetic level.

Columbia University Medical Center (CUMC) scientists have identified new genetic mutations that can cause pulmonary arterial hypertension (PAH), a rare fatal disease characterized by high blood pressure in the lungs.

Progressive kidney diseases, whether caused by obesity, hypertension, diabetes, or rare genetic mutations, often have the same outcome: The cells responsible for filtering the blood are destroyed.

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