Sentences with phrase «genetic cause of this disease»

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.

We have specialised algorithms that can predict the stock market and genetic causes of disease.

Both environmental and genetic causes of the disease have been postulated.

This is important because it shows that we can find the genetic cause of diseases — even common diseases involving many mutations — if we sequence family genomes.

The genetic cause of this disease is well understood, but there are currently no effective disease - modifying therapies.

This approach to derive patient - specific Embryonic Stem cell - like cells (iPS cells) is going to open up research into the genetic causes of disease and the search for therapies not only for such diseases, but also for repairing tissues damaged in other ways.

Recognizing that an individual has a genetic cause of a disease is the first step to early detection and prevention.

To understand the genetic causes of disease, we need to know which genes are involved in development, as well as when and where they act and how this changes with time.

Generally speaking, dog breeders are keen to participate in efforts to identify the genetic causes of disease in their favorite pooches, with the hope of improving the health and quality of life for their animals.

The purpose of this project is to characterize the most common type (s) of kidney disease in American Boxer dogs in order to identify a possible genetic cause of the disease.

Little is known about the environmental or genetic causes of diseases that produce other specific types of diabetes in cats.

Not exact matches

«They said, «Apart from the fact that improper reproduction of the DNA molecule causes genetic disease and deformities, we haven't understood anything else,»» says Mitra, who published his findings in the British Journal of Educational Technology last year.

The notion that antisense oligonucleotides might inhibit the progression of genetic diseases or tumor - causing viruses dates back to the late 1970s, when legendary molecular biologist Paul Zamecnik and colleague Mary Stephenson demonstrated the method's viability against the Rous sarcoma virus.

On Wednesday, Spark Therapeutics Inc (NASDAQ: ONCE) announced it will charge $ 425,000 per eye for one - time treatments of a rare genetic retinal disease that causes blindness.

(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.

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.

An electrocardiogram revealed an abnormality, and follow - up tests in June confirmed that Carle has hypertrophic cardiomyopathy (HCM), a genetic disease that is the most common cause of sudden death in young athletes.

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.

«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.

This may be down to a variety of causes, such as genetic abnormalities, infectious disease, environmental agents or certain behaviors.

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.

In Huntington's disease, mice carrying the pathologic genetic variant of the huntingtin gene are being used to understand how this genetic lesion causes degeneration of striatal neurons and to develop novel treatments for the illness.

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.

Mooney added, «Understanding and characterizing potentially functional HD protein interactions gives scientists new tools to connect genomic, genetic, proteomic and other molecular changes to identify the causes of this deadly disease.

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.

It hopes to get approval soon for a treatment for hereditary angioedema, a genetic disease that causes swelling from the absence of the C1 inhibitor protein.

«The evidence keeps coming that there are genetic causes or risk factors for most if not all neurological diseases,» notes Lars Olsen, past chair of the Department of Neuroscience, at the Karolinska Institutet in Stockholm, Sweden.

The precise cause of autoimmune diseases remains a mystery, but most scientists believe a combination of genetic and environmental factors come into play.

Like many human diseases, schizophrenia is complex, and no single genetic or environmental factor has been identified as the cause of the disease.

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

Our goal is to permanently correct the underlying genetic causes of this terrible disease, and this research brings us closer to realizing that end,» Dr. Olson said.

Scientists don't know what amount of diseased mitochondria would cause noticeable symptoms, or even disease, in a child created using genetic material from two women.

A decade ago, this week, scientists at the University of Texas Health Science Center at Houston and the Institute for Genomic Research announced they had decoded the genetic information inside Treponema pallidum, the bacterium that causes the sexually transmitted disease (STD) syphilis.

Albinism is a genetic disease causing partial or complete loss of pigmentation, or coloring, in the skin, eyes and hair.

Touted as the key to deciphering the genetic book of life, that initial sequence has proved most useful for finding or confirming genetic mutations that cause rare diseases such as Tay - Sachs disease and Huntington's.

This can result in a serious genetic disease that can cause anemia, neuro - cognitive impairment, and even early death,» says the study's lead - author, Dr. Jean - Louis Guéant, director of the Inserm unit of Nutrition - Genetics - Environmental Risks at University of Lorraine and head of the Department of Molecular Medicine and Personalized Therapeutics — National Center of Inborn Errors of Metabolism at the University Regional Hospital of Nancy.

The authors contend that the Parkinson's community must come together and focus its activism in support of: developing a better understand the environmental, genetic, and behavioral causes and risk factors for Parkinson's to help prevent its onset; increasing access to care — an estimated 40 percent of people with the disease in both the U.S. and Europe do not see a neurologist and the number is far greater in developing nations; advocating for increases in research funding for the disease; and lowering the cost of treatments — many patients in low - income countries do not have access to drugs that are both lifesaving and improve quality of life.

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.

A research team at Cincinnati Children's Hospital Medical Center is leveraging semantic capabilities to find the underlying genetic causes of cardiovascular diseases.

New, sophisticated gene sequencing techniques are leading to an increasing understanding of the causes of genetic disease, and can help parents with affected children make informed reproductive choices, the annual conference of the European Society of Human Genetics will hear.

«One only wants to change the medical management of patients when the genetic testing identifies a variant that is likely to be disease - causing.

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.

Julian Isla, Executive Director of DSF - EU, stated: «One of the most important things for patients with genetic disorders and their families is to be able to give a name to the gene causing their disease.

Using CRISPR / Cas9, the Hamon Center team was able to correct the genetic defect in a mouse model of DMD and thus prevent the development of features of the disease, which in boys causes progressive muscle weakness and degeneration, often along with breathing and heart complications.

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.

Clinically, the genetic and trauma - caused conditions are very similar, with bone formation in muscle leading to pain and restricted movement, according to the leader of the new study, Edward Hsiao, MD, PhD, an endocrinologist who cares for patients with rare and unusual bone diseases at the UCSF Metabolic Bone Clinic in the Division of Endocrinology and Metabolism.

«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.