Sentences with phrase «affected by a genetic disease»

He was one of the founders of modern molecular biology and his contribution enabled patients affected by genetic disease to gain an understanding of their condition and begin to hope for the possibility of a cure.

Not exact matches

«Considering the rarity of those affected by primary sclerosing cholangitis, the contribution of specimens by multiple centers across the globe allowed us to view the genetic comparisons of this disease in a much bigger picture,» says Dr. Lazaridis.

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

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.

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

The work, inspired by an investigation into a genetic form of the condition, has the potential to affect therapeutic research for millions of people suffering from progressive kidney diseases.

As an example of a disease whose genetic basis not only is felt to be much simpler than that of malignancies, but also is affected by host genomic and environmental complexities, consider sickle cell disease.

Human embryonic stem cells derived from affected embryos during a pre-implantation diagnostic (PGD), as well as the conversion of somatic cells, such as skin fibroblasts, into induced pluripotent stem cells by genetic manipulation, offer the unique opportunity to have access to a large spectrum of disease - specific cell models.

Genetic counseling is an option for women who are not personally affected by breast cancer but have a significant family history of breast cancer or have other factors that put them higher risk for developing the disease.

TNGB collects, stores and distributes high quality biological materials (nucleic acids, cell lines and tissue samples) linked to relevant clinical and genetic data from patients affected by inherited diseases.

The first detailed genetic comparison of purebred domestic dogs promises to rewrite the textbooks with new information about breed classification and insights that may improve canine health by boosting understanding of the more than 350 inherited disorders, including cancer, heart disease, epilepsy, blindness and deafness, which affect dogs.

The study was carried out by a team of researchers from two global scientific consortia, ENIGMA and CHARGE, which began to pool their brain imaging and genetic datasets back in 2009 to look for genetic markers that affect one's risk of developing brain diseases.

«PrediXcan tells us which genes are more likely to affect a disease or trait by learning the relationship between genotype, gene expression levels from large - scale transcriptome studies, and disease associations from GWAS studies,» said study leader Hae Kyung Im, PhD, research associate (assistant professor) of genetic medicine at the University of Chicago.

Its mission is to find a cure for these seriously disabling — and currently incurable - diseases, most of which have a genetic origin, and also help people affected by them.

The specific vocation of I - Stem is to explore all the therapeutic potential of human pluripotent stem cells for applications in patients affected by rare diseases of genetic origin.

Five years later, Amy informs her physician that she and her husband are planning to start a family, and they request information regarding the risk of having a child affected by a serious genetic disease, based on their genome sequence data.

Leber Hereditary Optic Neuropathy (LHON) is a rare maternally inherited mitochondrial genetic disease, characterized by the degeneration of retinal ganglion cells that results in brutal and irreversible vision loss that can lead to legal blindness, and mainly affects adolescents and young adults.

A U-M alumna who sought to avoid passing a deadly disease to her son has given scientists a gift that could help many more families affected by the same disease: an embryo that has allowed U-M researchers to produce stem cells and nerve cells that contain the crucial disease - causing genetic defect.

We are doing this by comparing the genetic information in the immune cells of individuals who have illnesses that affect the immune system such as cancer and inflammatory disease.

The Crimson notes that Dr. Watson said that «Although medicinal research into the treatments of genetic diseases is progressing, Watson said he advocates measures to lower the number of families who are affected by these ailments.»

Sickle cell disease affects about 100,000 Americans, and it's caused by a single genetic mutation that must be inherited from both a patient's mother and father.

The collection was created to help investigators achieve a complete understanding of the genetic control of development and function of the mammalian pigmentation system and its diseases, including interacting functions that affect other biological systems by pleiotropic effects.

The UK 100,000 Genomes Project is a UK large - scale genomic project aiming to sequence and analyse the genetic information of NHS patients affected by cancers or rare diseases.

About 1.3 million Americans are affected by rheumatoid arthritis, an autoimmune disease thought to be caused by genetic and environmental factors.

The onset of these diseases is affected by complex interactions of genetic and several environmental factors.

On small study from 2004 also showed cognitive improvement when Alzheimer's disease patients were given MCT oils, but the amount of improvement was affected by certain genetic markers.

It was established later (Johnson et al, 1980) that the form of the disease found in Bedlingtons terriers was apparently caused by the presence of an autosomal recessive gene in affected dogs - it is a genetic disorder and in order for the condition to develop in a dog / bitch a copy of this defective gene must have been passed to the affected animal by both parents, i.e. the affected dog must have two «copies» of the defective gene in its body cells.

While the diagnosis of retinal degeneration is made by ophthalmoscopy and / or electroretinography, genetic testing for PRA can be useful for breeders to identify not only affected animals, but those that are genetic carriers for the disease.

Shih Tzus can be affected by a variety of health problems, including genetic diseases and conditions related to the dog's small size.

With genetic testing at each subsequent generation, and with a goal of breeding normal by carrier or normal by affected, the frequency of disease will drop and frequency of normals will increase without loss of other desirable traits valued in collies.

Since hip dysplasia is a polygenic disorder controlled by several gene pairs, the disease affects individual dogs due to different genetic combinations.

Rooted in a deepening understanding of how brain architecture is shaped by the interactive effects of both genetic predisposition and environmental influence, and how its developing circuitry affects a lifetime of learning, behavior, and health, advances in the biological sciences underscore the foundational importance of the early years and support an EBD framework for understanding the evolution of human health and disease across the life span.