Results 11 to 20 of about 5,467,287 (313)

Genetic Disease and Therapy [PDF]

Annual Review of Pathology: Mechanisms of Disease, 2021
Genetic diseases cause numerous complex and intractable pathologies. DNA sequences encoding each human's complexity and many disease risks are contained in the mitochondrial genome, nuclear genome, and microbial metagenome. Diagnosis of these diseases has unified around applications of next-generation DNA sequencing.
Roth, Theodore L, Marson, Alexander
openaire   +5 more sources

Genetic Therapy of Fuchs Endothelial Corneal Dystrophy: Where Are We? A Review. [PDF]

Genes (Basel)
Objectives: The incidence of Fuchs endothelial corneal dystrophy (FECD) is growing, and with it, the unmet need for a corneal transplant. Among alternative treatment modalities, only genetic therapy represents a causal therapy.
Stunf Pukl S.
europepmc   +2 more sources

Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and Obstacles [PDF]

, 2022
Fibrodysplasia ossificans progressiva (FOP) is a rare and devastating genetic disease, in which soft connective tissue is converted into heterotopic bone through an endochondral ossification process.
Shim, Jae-Hyuck, Delai, Patricia L R, Madhuri, Vrisha, De Cunto, Carmen L, de Ruiter, Ruben D, Schoenmaker, Ton, Zasloff, Michael, Friedman, Clive S, Gao, Guangping, Cho, Tae-Joon, Morhart, Rolf, Grunwald, Zvi, di Rocco, Maja, Haga, Nobuhiko, de Vries, Teun J, Hsiao, Edward C, Pals, Gerard, Netelenbos, Coen, Diecidue, Robert J, Kaplan, Frederick, Smilde, Bernard J, Scott, Christiaan, Eekhoff, Elisabeth M W, Pignolo, Robert J, Micha, Dimitra   +24 more
core   +1 more source

Achromatopsia: Genetics and Gene Therapy [PDF]

Molecular Diagnosis & Therapy, 2021
Achromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an autosomal recessively inherited retinal disorder that affects the cones of the retina, the type of photoreceptors responsible for high-acuity daylight vision. ACHM is caused by pathogenic variants in one of six cone photoreceptor-expressed genes.
Stylianos Michalakis, Maximilian Gerhardt, Günther Rudolph, Siegfried Priglinger, Claudia Priglinger   +4 more
openaire   +3 more sources

Durability of transgene expression after rAAV gene therapy [PDF]

, 2022
Recombinant adeno-associated virus (rAAV) gene therapy has the potential to transform the lives of patients with certain genetic disorders by increasing or restoring function to affected tissues.
Schulz, Martin, Levy, Daniel I, McCarty, Douglas, Gao, Guangping, Muhuri, Manish   +4 more
core   +1 more source

Genetics and Therapies for GM2 Gangliosidosis [PDF]

Current Gene Therapy, 2018
Tay-Sachs disease, caused by impaired β-N-acetylhexosaminidase activity, was the first GM2 gangliosidosis to be studied and one of the most severe and earliest lysosomal diseases to be described. The condition, associated with the pathological build-up of GM2 ganglioside, has acquired almost iconic status and serves as a paradigm in the study of ...
Cachon-Gonzalez, Maria Begona, Zaccariotto, Eva, Cox, Timothy Martin   +2 more
openaire   +2 more sources

“Metacognitive Reflection and Insight Therapy” (MERIT) for the Occupational Therapy Practitioner [PDF]

, 2022
Background: Metacognitive Reflection and Insight Therapy (MERIT) is a manualized, evidence-based approach that supports occupational participation through its focus on the inter-related constructs of meaning making, positionality, and self-definition ...
Lysaker, Paul H., Mahaffey, Lisa, Horsford, Caitlin, Wasmuth, Sally   +3 more
core   +1 more source

Prospective genetic screening decreases the incidence of Abacavir hypersensitivity reactions in the Western Australian HIV cohort study [PDF]

, 2005
Abacavir therapy is associated with significant drug hypersensitivity in ∼8% of recipients, with retrospective studies indicating a strong genetic association with the HLA-B*5701 allelle.
McKinnon, E., Martin, A., Nolan, D., Rauch, A, Almeida, C., McKinnon, E, Rauch, A., Martin, A, Almeida, C, Nolan, D, Mallal, Simon, Mallal, S.   +11 more
core   +2 more sources

Genetic therapies for neurological disorders [PDF]

Human Genetics, 2021
AbstractIn recent years, it has become increasingly apparent that many neurological disorders are underpinned by a genetic aetiology. This has resulted in considerable efforts to develop therapeutic strategies which can treat the disease-causing mutation, either by supplying a functional copy of the mutated gene or editing the genomic sequence. In this
Laura FitzPatrick, Adrian Bird
openaire   +2 more sources

Genetic Basis and Therapies for Vascular Anomalies [PDF]

Circulation Research, 2021
Vascular and lymphatic malformations represent a challenge for clinicians. The identification of inherited and somatic mutations in important signaling pathways, including the PI3K (phosphoinositide 3-kinase)/AKT (protein kinase B)/mTOR (mammalian target of rapamycin), RAS (rat sarcoma)/RAF (rapidly accelerated fibrosarcoma)/MEK (mitogen-activated ...
Angela Queisser, Emmanuel Seront, Laurence M. Boon, Miikka Vikkula   +3 more
openaire   +3 more sources