Genes in patients. Medical search. Frequent questions

Family history remains one of the major risk factors that contribute to cancer, and recent studies have identified several genes whose germline mutations are associated with cancer. (nature.com)
8 Genetic tests based on these highly penetrant gene mutations have shown their usefulness, but they can explain only a small fraction (5-10%) of patients. (nature.com)
Primary and metastatic castration-resistant prostate cancers (mCRPC) have previously been shown to fall into genomic subtypes, and trials are now ongoing to test targeted treatments, such as PARP inhibitors and AKT inhibitors, in patients with particular gene mutations, the authors wrote. (genengnews.com)
Findings from the integrative analysis approach indicated that patients with mutations in the retinoblastoma (RB1) were 3.3 times more likely to die as men without RB1 alterations, and were also 7.7 times more likely to relapse on standard therapy. (genengnews.com)
Mutations in p53 and the androgen receptor gene were linked with an increased risk of relapse on abiraterone or enzalutamide therapy. (genengnews.com)
Conversely, while mutations in the DNA repair genes BRCA1, BRCA2, and ATM, and in PI3K, were relatively common, they weren't linked with treatment success or overall survival. (genengnews.com)
Interestingly, tumors with mutations in CDK12, a gene that is linked with positive responses to immunotherapy, also commonly carried mutations in CDK4 and CCND1, which are targets of the breast cancer drug palbociclib. (genengnews.com)
Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease. (alzforum.org)
Through genomic analysis of tumor samples, the researchers identified somatic mutations in EGFR, KRAS, and other target genes. (dana-farber.org)
Using the genomic and ancestry data, the researchers assessed the associations of somatic mutations in target genes and global ancestry groups within a single admixed population. (dana-farber.org)
After adjusting for a variety of factors, including self-reported smoking status and sample-specific tumor mutational burden, the researchers found that global Native American ancestry was positively correlated with mutations in the EGFR gene. (dana-farber.org)
Further, the researchers found that Native American ancestry was predominantly associated with oncogenic mutations in the EGFR gene, but not with non-oncogenic mutations. (dana-farber.org)
Meyerson and colleagues then stratified patients by their self-reported smoking status and evaluated the association between global ancestry and mutations in target genes. (dana-farber.org)
In both never smokers and smokers, global Native American ancestry was associated with mutations in the EGFR gene, suggesting that the genomic differences associated with Native American ancestry are independent of smoking status. (dana-farber.org)
To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. (molvis.org)
Putative pathogenic mutations of the COL11A1 gene were absent in this cohort of patients. (molvis.org)
In this study, three novel and two known mutations in the COL2A1 gene were identified in six of 16 Chinese patients with Stickler syndrome. (molvis.org)
Analysis of the genotype-phenotype correlation showed that the early onset of high myopia with vitreous abnormalities may serve as a key indicator of Stickler syndrome, while the existence of mandibular protrusion in pediatric patients may be an efficient indicator for the absence of mutations in COL2A1 and COL11A1 . (molvis.org)
Types 1 and 2 are caused by mutations in the COL2A1 (OMIM 120140 ) and COL11A1 (OMIM 120280 ) genes, respectively. (molvis.org)
It is estimated that these two genes are responsible for more than 95% of the mutations in patients with Stickler syndrome ( HGMD , last updated in March 2015). (molvis.org)
Advances in sequencing technologies may allow for more efficient diagnosis of disease by combining analyses of phenotypes and gene mutations. (molvis.org)
Non-FA (or underlying FA) patients harboring heterozygous germline FA gene mutations may also face an increased risk of developing bone marrow failure, primary immunodeficiency disease, and hereditary cancer predisposition syndromes. (frontiersin.org)
Targeted next-generation sequencing (NGS) of a panel of 80 genes was performed on her initial bone marrow aspirate sample and identified PTPN11, NRAS , and DNMT3A somatic mutations. (frontiersin.org)
This case highlights the importance of genetic counseling in patients with hematopoietic neoplasms with high clinical suspicion for carrying cancer susceptibility gene mutations, which require timely diagnosis and personalized management. (frontiersin.org)
To date, researchers have already identified germline mutations in 22 specific genes associated with the FA pathway, each accounting for an individual FA complementation group ( 2 ). (frontiersin.org)
Here, we present the case of a 54-year-old female patient with multiple FA gene mutations. (frontiersin.org)
Comprehensive genetic testing showed that many molecular variations (including FA gene germline mutations, RAS and epigenetic pathway somatic mutations, and NUP98-HOXC11 fusion) were highly linked to her serious and complex medical history ( Figures 1A, B ). (frontiersin.org)
(B) The patient was born with four Fanconi anemia (FA) gene mutations and germline predisposition to cancers. (frontiersin.org)
Based on these previous analyses and clinical findings, CLRN1 was directly sequenced in 17 patients susceptible to carrying mutations in this gene. (molvis.org)
The majority of the pathogenic variants are nonsense mutations and result in the loss of function of kindlin-1 gene ( 1 ). (spandidos-publications.com)
The current study reported a Chinese patient with KS based on typical clinical manifestations and a novel FERMT1 mutation, and presented a brief summary of all pathogenic mutations in FERMT1 reported in KS between 1984 and May 2020. (spandidos-publications.com)
More than 130 mutations in the ARSB gene have been found to cause mucopolysaccharidosis type VI (MPS VI). (medlineplus.gov)
Most of these mutations change single DNA building blocks (nucleotides) in the gene. (medlineplus.gov)
Garrido E, Chabas A, Coll MJ, Blanco M, Dominguez C, Grinberg D, Vilageliu L, Cormand B. Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. (medlineplus.gov)
Garrido E, Cormand B, Hopwood JJ, Chabas A, Grinberg D, Vilageliu L. Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. (medlineplus.gov)
The polymers are either translated into proteins, interfere with target gene expression, or possibly correct genetic mutations. (wikipedia.org)
Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)

One patient had a mutation in the mitochondrial tRNAleu(UUR) gene at bp 3243. (nih.gov)
The role of other mitochondrial gene defects in diabetes and the pathophysiological basis of glucose intolerance in patients with the MELAS mutation requires further elucidation. (nih.gov)
In what they claim is the largest study of its kind to date, an international team of scientists has identified a gene mutation in patients with prostate cancer that increases their risk of death more than threefold, and increase the likelihood of relapse nearly sevenfold. (genengnews.com)
People with CGD have a mutation in the CYBB gene, one of the five genes that white blood cells need to kill bacterial and fungal infections with a burst of chemicals. (b-s-h.org.uk)
They found that the correlation between ancestry and increased mutation frequency in the EGFR gene was stronger at the local genome level than the global genome level. (dana-farber.org)
Around one-third of all cases of achromatopsia are caused by a mutation in the GNGA3 gene. (zmescience.com)
Genetic testing revealed that he had an expansion mutation in CCHC-type zinc finger, nucleic acid binding protein gene confirming the diagnosis of myotonic disorder type 2 and carried a mutation in the chloride voltage-gated channel 1 gene. (nih.gov)
The accelerated approval, granted to Sarepta Therapeutics, came with the condition that the patients have a confirmed mutation in the DMD gene and do not have a preexisting medical reason preventing treatment with the therapy. (scienceboard.net)
This is the first study in a cohort of Chinese patients with Stickler syndrome, and the results expand the mutation spectrum of the COL2A1 gene. (molvis.org)
Patients with FA gene mutation are hypersensitive to DNA damage and unable to successfully repair damaged DNA when exposed to DNA-crosslinking agents, cytotoxic chemotherapeutics, and ionizing radiation ( 3 , 4 ). (frontiersin.org)
Throughout the lifetime of patients with an FA gene mutation, DNA damage increasing accumulates, which would lead to a complex clinically and genetically heterogeneous disorder characterized by developmental abnormalities, bone marrow failure (BMF), immune deficiency, and a high risk of developing various cancers (e.g. (frontiersin.org)
Microarray analysis revealed the previously reported mutation p.Y63X in two unrelated patients, one of them homozygous for the mutation. (molvis.org)
The results identified one novel homogenous mutation in the patient: c.1885_1901del (p.Val629fs) on exon 15 in FERMT1 . (spandidos-publications.com)
In Colorado and Wyoming, nearly every baby born since 2020 is tested for signs of a mutation in the SMN1 gene, an indicator of spinal muscular atrophy (SMA). (medscape.com)
Direct oral anticoagulants (DOACs) or warfarin can be used for prevention and treatment of venous thrombosis in patients with one (heterozygosity) or two (homozygosity) copies of the prothrombin 20210 gene mutation. (msdmanuals.com)

In addition, amino acid metabolism plays an important role in regulating tumor immunity and targeting amino acid metabolism may help to overcome immunotherapy resistance and improve existing therapies for COAD patients. (frontiersin.org)
And so when you have a son with Duchenne and you see them getting weaker right before your eyes, you know we have to get therapies to patients sooner rather than later. (wemu.org)
LEXINGTON, Mass. and AMSTERDAM, Feb. 07, 2022 (GLOBE NEWSWIRE) -- uniQure (NASDAQ: QURE), a leading gene therapy company advancing transformative therapies for patients with severe medical needs, today announced the dosing of the first two patients in its European open-label Phase Ib/II clinical trial of AMT-130, a potential one-time gene-therapy approach for the treatment of Huntington's disease. (biospace.com)
We are leveraging our modular and validated technology platform to rapidly advance a pipeline of proprietary gene therapies to treat patients with hemophilia B, Huntington's disease, Fabry disease, spinocerebellar ataxia Type 3 temporal lobe epilepsy, Alzheimer's, Parkinson's and ALS. (biospace.com)
The Q&A document is intended to answer questions from patients and caregivers residing outside of the US on both Zynteglo® and other FDA-approved bluebird bio gene therapies. (thalassaemia.org.cy)
The National Institutes of Health (NIH) is funding work that could show how the immune system reacts to muscle disease gene therapies and lead to a protocol. (scienceboard.net)
Together, we'll continue to focus on accelerating innovative stem cell and gene therapies to patients while meeting the basic health care needs of underserved communities. (uclahealth.org)
Not only are we building a workforce to deliver therapies to patients in need , but we are also cultivating the next generation of brilliant scientists. (uclahealth.org)
Join the Global Registry for Inherited Neuropathies (GRIN) and help develop drugs, gene therapies, and clinical trials for CMT and other Inherited Neuropathies! (hnf-cure.org)
General practitioners "need to know side effects because they are going to deal with side effects when someone calls them in the middle of the night," said Beales, who also is chief executive officer of Axovia Therapeutics, a biotech company developing gene therapies. (medscape.com)
Adeno-associated virus (AAV) or AAV-mediated gene therapies carry an increased risk for damage to the heart and liver, Nelson said. (medscape.com)

Transcriptome analysis reveals overlap in fusion genes in a phase I clinical cohort of TNBC and HGSOC patients treated with buparlisib and olaparib. (broadinstitute.org)
RNA-seq was utilized to identify fusion genes in a cohort of 18 TNBC and HGSOC patients treated with the PI3K inhibitor buparlisib and the PARP inhibitor olaparib in a phase I clinical trial (NCT01623349). (broadinstitute.org)
In summary, this study provides the first characterization of fusion genes in a cohort of TNBC and HGSOC patients. (broadinstitute.org)
We expect to complete patient enrollment in this European study by the end of the year and to provide safety and target-engagement data from the full 10-patient, low-dose cohort in the U.S. trial in the second quarter of this year. (biospace.com)
The European Phase Ib/II clinical trial of AMT-130 for the treatment of Huntington's disease will explore the safety, proof of concept, and dosing in 15 total patients with early manifest Huntington's disease split into a five person, low-dose open-label cohort, followed by a nine patient, higher-dose open-label cohort. (biospace.com)
We tested whether a commercial cardiomyopathy gene panel could serve as a diagnostic tool in a Finnish cohort of HLHS patients with impaired right ventricular function to identify potentially pathogenic variants associated with poor prognosis. (helsinki.fi)

When neoplasms arise, they are modulated by the interactions of multiple genes based on a great diversity of genetic alterations, which leads to high tumoral heterogeneity. (nature.com)
Inheritance being multifactorial, genetic variants in multiple genes interact both with each other and with the environment [ 13 - 20 ]. (hindawi.com)
This panel enables us to simultaneously analyse multiple genes in one test. (qmul.ac.uk)

People with a rare blood disease have been successfully treated using gene therapy of their own stem cells, it has been announced. (b-s-h.org.uk)

In collaboration with CDC, the Pennsylvania Department of Health conducted an investigation to guide contact tracing and perirectal swab screening for bacteria with the mcr-1 gene in the patient's household and in two facilities where she had frequent, extensive, and prolonged (≥7 days) interactions with health care personnel. (cdc.gov)
Twenty persons at higher risk included the patient's medical facility roommate, household contacts, home health personnel, friends who assisted with activities of daily living such as cleaning, bathing, rotating, ambulating and toileting, and a patient who developed an E. coli infection after receiving direct care from a caregiver who also assisted the index patient. (cdc.gov)
Gene therapy, the introduction of genetic material into a patient's cells to rewrite genetic instructions and treat disease, is a young field in the early stages of potential applications. (sciencedaily.com)
University of Pennsylvania doctors say they cured two men of leukemia with a gene therapy that transforms a patient's own cells into cancer killers. (fox13now.com)
The research, published in the journal Nature Medicine , involved restoring the activity of the defective NAPDH oxidase in the patient's phagocytic cells by gene transfer using a lentiviral vector. (b-s-h.org.uk)
The therapy involves inserting the CNGA3 gene directly into a patient's retina using a harmless adenovirus. (zmescience.com)
The patient's parents were healthy and the patient had no siblings or children. (spandidos-publications.com)
Not all medical procedures that introduce alterations to a patient's genetic makeup can be considered gene therapy. (wikipedia.org)

To determine whether transmission was occurring between patients, the state health department offered to conduct point prevalence studies at the two high-risk facilities. (cdc.gov)
Finding the mcr-1 gene in 0.4% of Enterobacteriaceae clinical isolates in Hong Kong is expected because of the high proportion of livestock and meat imported from China, where prevalence of colistin-resistant isolates is up to 25.4% and 28.0% in pigs and retail chicken meat, respectively ( 5 , 6 ). (cdc.gov)
However, the prevalence and role of fusion genes in female cancers remain largely unexplored. (broadinstitute.org)
The long non-coding RNA MALAT1 was involved in 97/156 (62%) fusion genes, followed in prevalence by MUC16, FOXP1, WWOX and XIST. (broadinstitute.org)
The prevalence of 5G homozygous carriers was significantly lower in patients than in controls (10% vs. 26%, p=0.009). (unboundmedicine.com)
The prevalence of a reduced fibrinolytic potential due to PAI-1 excess was 45.7% among DVT patients. (unboundmedicine.com)
The prevalence of CLRN1 among our patients with USH is low. (molvis.org)
This study was conducted to investigate the prevalence of methicillin resistance Staphylococcus aureus among patients in two health facilities in Akwa Ibom State, Nigeria. (who.int)
For example, in Nigeria, by far the most populous country in the subregion, 24% of the population are carriers of the mutant gene and the prevalence of sickle-cell anaemia is about 20 per 1000 births. (who.int)

The study was published in the second February issue of Gene Therapy. (sciencedaily.com)
In collaboration with Julianna Lisziewicz, Ph.D., of the Research Institute for Genetic and Human Therapy in Washington, D.C., the researchers took advantage of the fact that an HIV gene called tat is essential for the virus to replicate in the infected cells. (sciencedaily.com)
In this way, the antitat gene therapy might contribute to maintaining HIV in a dormant state in latently infected cells. (sciencedaily.com)
The challenge of a gene therapy approach to AIDS is to choose the right viral genes to sabotage the AIDS virus. (sciencedaily.com)
Since potential safety issues exist with gene therapy, the next step will be to test the antitat strategy in animal models," said Dr. Starr. (sciencedaily.com)
The antitat research combines gene therapy with another promising approach in genetically based medicine: antisense therapy. (sciencedaily.com)
The Food and Drug Administration approved the first gene therapy to treat the most common form of muscular dystrophy. (wemu.org)
In an eagerly anticipated decision, the Food and Drug Administration Thursday approved the first gene therapy for muscular dystrophy. (wemu.org)
Instead, the agency restricted access to patients ages four and five until more evidence is available that the therapy is safe and effective. (wemu.org)
Sarepta asked the FDA to approve the gene therapy under a program that allows the agency to provide access to treatments before direct evidence is available that they are effective. (wemu.org)
Sarepta's muscular dystrophy treatment is the first gene therapy approved under the program . (wemu.org)
The gene therapy works by infusing trillions of harmless viruses in single treatment that has been genetically modified to ferry a gene to patients' muscles. (wemu.org)
They say the two examples show the gene therapy treatment can attack cancer immediately, then stay inside the body for years and keep the disease at bay. (fox13now.com)
Two patients died during the trial as a result of complications acquired prior to gene therapy treatment. (b-s-h.org.uk)
A gene therapy trial has been launched to help people with advanced heart failure who must constantly carry a bulky battery to power an artificial heart pump. (progress.org.uk)
The trial is a subset of Celladon's CUPID Phase 2b trial, which is testing the therapy on 250 US and European patients with less advanced heart failure. (progress.org.uk)
Using a harmless modified virus as a gene carrier, the therapy is designed to increase levels of an enzyme involved in muscle contraction in damaged heart muscle cells. (progress.org.uk)
The rationale for this study is to investigate the effectiveness of a new form of therapy, which might in the future be a viable alternative to transplantation', says Dr Nick Banner , the consultant cardiologist at Harefield Hospital who performed the first gene therapy. (progress.org.uk)
Professor Sian Harding , head of the BHF Centre of Regenerative Medicine at Imperial College London, and who helped develop the therapy, added: 'It's important to remember that the therapy is not correcting a gene defect. (progress.org.uk)
CUPID has not yet trialled the therapy on patients who possess the virus antibodies. (progress.org.uk)
If we demonstrate that the antibody does not block the delivery of gene therapy, many more patients could benefit', says lead investigator Dr Alex Lyon , from the Royal Brompton and Harefield NHS Foundation Trust. (progress.org.uk)
The best thing that could happen would be for my heart function to show signs of improvement and for the gene therapy to prove to be a "miracle cure" for myself and other patients', he said. (progress.org.uk)
Six boys with the inherited immune disorder Wiskott-Aldrich Syndrome (WAS) have been successfully treated with a gene-therapy technique that harnesses a 'tamed' HIV virus. (progress.org.uk)
Although the therapy didn't cure the patients, it was deemed safe. (zmescience.com)
Now, doctors in Germany have run a trial with an experimental gene therapy that aims to correct the rare condition. (zmescience.com)
This was the target of a novel gene therapy developed by the Institute for Ophthalmic Research at the University Hospitals in Tübingen and the Departments of Pharmacy and Ophthalmology at Ludwig Maximilian University of Munich (LMU). (zmescience.com)
The researchers tried the therapy with nine achromatopsia patients aged 24 to 59 years. (zmescience.com)
Our patients have been very interested in the potential for a one-time treatment to stop progression of the disease and, given the recent setbacks in Huntington's disease research it means a lot to the Polish HD Community to be able to enroll the first patients in this first EU gene therapy trial. (biospace.com)
AMT-130 is uniQure's first central nervous system (CNS) focused gene therapy product consisting of an AAV5 vector carrying an artificial micro-RNA specifically tailored to silence the huntingtin gene, leveraging our proprietary miQURE ® silencing technology. (biospace.com)
uniQure is delivering on the promise of gene therapy - single treatments with potentially curative results. (biospace.com)
However, researchers at UC Davis Health have infused their first Wilson Disease patient with a gene therapy as part of a groundbreaking new clinical trial. (ucdavis.edu)
The industry-funded clinic trial with Ultragenyx is evaluating UX701, an investigational adeno-associated virus (AAV) vector-based gene therapy. (ucdavis.edu)
UC Davis Health is one of just seven health care institutions worldwide to infuse a patient with this new gene therapy for the Ultragenix trial so far. (ucdavis.edu)
The gene therapy treatment aims to deliver stable expression of the ATP7B copper transporter, which plays a role in the regulation of copper homeostasis in the liver by delivering copper to the secretory pathway and mediating export of excess copper into the bile, following a single intravenous infusion. (ucdavis.edu)
This therapy delivers the gene to the liver to replace the copper transporter that is mutated and allows the liver to function properly so it can eliminate accumulated copper," explained Medici. (ucdavis.edu)
We are encouraged by the safe administration of the gene therapy and promising preliminary results, but the same success needs to be seen in more patients before the treatment can be approved," said Medici. (ucdavis.edu)
In August 2022, the US Food and Drug Administration ( FDA) approved Zynteglo® , a one-time, cell-based gene therapy for adult and pediatric patients with β-thalassaemia major, opening up new and exciting opportunities for those who are medically eligible to receive this life-changing treatment option. (thalassaemia.org.cy)
The Patient Brochure includes important information and details on β-thalassaemia genetics, explains how Zynteglo® addresses the disease at the genetic level, presents clinical trials studies' results and safety information, describes the patient treatment journey with the therapy, and discusses other considerations helpful for decision-making processes with the patients' treating physicians and other doctors. (thalassaemia.org.cy)
Bluebird has also created my bluebird support -a collection of resources aimed at offering guidance and support to patients and caregivers regarding Zynteglo® that ranges from helping them locate a Qualified Treatment Centre (a specialized hospital qualified to administer a bluebird bio gene therapy) to addressing non-clinical barriers to treatment access, educational materials, treatment cost and insurance-related information, and much more. (thalassaemia.org.cy)
June 22, 2023 -- The U.S. Food and Drug Administration (FDA) on Thursday approved Elevidys, the first gene therapy for the treatment of pediatric patients 4 through 5 years of age with Duchenne muscular dystrophy (DMD). (scienceboard.net)
Elevidys is a recombinant gene therapy designed to deliver a gene into the body that leads to production of Elevidys micro-dystrophin, a shortened protein (138 kDa, compared to the 427 kDa dystrophin protein of normal muscle cells) that contains selected domains of the dystrophin protein present in normal muscle cells. (scienceboard.net)
Researchers have created a lentiviral gene therapy vector capable of targeting muscle cells to treat the rare disease Duchenne muscular dystrophy (DMD). (scienceboard.net)
This multi-center, open-label, dose-escalation clinical trial in the U.S. will assess the safety, tolerability and efficacy of KH631 as a single administration gene therapy for patients with previously treated wet AMD. (wboy.com)
Dosing our first patient in the VAN-2201 Phase 1 trial is an important milestone in the advancement of KH631 by exploring the potential of single administration gene therapy as treatment for wet AMD. (wboy.com)
Chengdu Origen is a clinical-stage gene therapy company focused on developing gene therapy for unmet medical needs and providing meaningful clinical benefits for patients suffering from genetic and chronic diseases and has comprehensive viral vector manufacturing capabilities and infrastructure. (wboy.com)
There are a variety of different gene therapy approaches for sickle cell disease being developed and tested in clinical trials at UCLA and elsewhere," Schiller said. (uclahealth.org)
The Alpha clinic also will use funds from the new grant to build on UCLA's existing training programs in cellular and gene therapy as well as regenerative medicine. (uclahealth.org)
The progression of gene therapy through clinical trials is contributing to millions of lives extended as well as more patients going into remission. (genetherapynet.com)
The success gene therapy is playing towards these common cancers are making waves in the rare space as well. (genetherapynet.com)
Do you have a gene therapy news item you would like to share? (genetherapynet.com)
This press release contains "forward-looking statements," within the meaning of the Private Securities Litigation Reform Act of 1995, regarding, among other things, Chengdu Origen's and Vanotech's research and development plans in connection with its clinical development program and the gene therapy treatments. (valleycentral.com)
We aim to markedly expand access of all Californians to outstanding cell and gene therapy trials for multiple conditions with unmet treatment needs. (ca.gov)
Californians with devastating conditions will be able to enroll in early and later stage cell and gene therapy clinical trials. (ca.gov)
Will telomerase gene therapy prove to be a cure for aging? (rechargebiomedical.com)
Not all types of CMT can be cured with Gene Therapy, but there are many types that can. (hnf-cure.org)
HNF is leading efforts in identifying those types and spearheading initiatives with a collaborative team of experts in the field of gene therapy. (hnf-cure.org)
Most of these clinicians had never cared for a child with SMA before, nor did they know that lifesaving gene therapy for the condition now exists. (medscape.com)
The newest addition to the list of approvals is Elevidys, Sarepta's gene therapy for Duchenne muscular dystrophy (DMD). (medscape.com)
Within the decade, a significant fraction of the pediatric population will have gone through gene therapy, experts told Medscape Medical News . (medscape.com)
These cases - some before gene therapy and some after - will show up in primary care offices before the textbook is written. (medscape.com)
Even now, gene therapy is sequestered away in large academic medical research centers. (medscape.com)
Although they probably will not manage gene-therapy patients on their own - co-managing them instead with subspecialists - they will be involved in the ordering and monitoring of safety labs and other tests. (medscape.com)
Some of the side effects that come with gene therapy are established. (medscape.com)
In the 30-90 days after gene therapy, patients need a lot of follow-up for safety reasons. (medscape.com)
But aftercare for gene therapy will be more than just monitoring and managing side effects. (medscape.com)
In some cases, gene therapy may largely eliminate the disease. (medscape.com)
The Food and Drug Administration has placed a clinical hold on Pfizer's gene therapy to treat Duchenne muscular dystrophy, following the death of a patient in a Phase 1 clinical trial. (biopharmadive.com)
Gene therapy revealed itself more than three years ago as a promising strategy for treating DMD. (biopharmadive.com)
Solid has seen its progress slowed by safety concerns, while Sarepta's first data from a trial that compared its gene therapy to a placebo failed to show significant improvement in patients' motor function. (biopharmadive.com)
Pfizer had just re-started work on its Phase 3 trial, which was slowed by cases of muscle weakness that the company attributed to an immune response to the protein encoded by its gene therapy. (biopharmadive.com)
The side effect could be avoided, Pfizer claimed, by ensuring patients with a certain genetic profile don't receive the therapy. (biopharmadive.com)
That leaves significant uncertainty for the DMD community, which has successfully organized to campaign for greater research and investment in experimental medicines like gene therapy. (biopharmadive.com)
Gene therapy safety, in DMD and beyond, has recently come under more intense scrutiny after concerning side effects cropped up in trials. (biopharmadive.com)
Gene therapy is a medical technology which aims to produce a therapeutic effect through the manipulation of gene expression or through altering the biological properties of living cells. (wikipedia.org)
Between 1989 and December 2018, over 2,900 clinical trials were conducted, with more than half of them in phase I. In 2003, Gendicine became the first gene therapy to receive regulatory approval. (wikipedia.org)
Gene therapy was first conceptualized in the 1960s, when the feasibility of adding new genetic functions to mammalian cells began to be researched. (wikipedia.org)
The first attempt, an unsuccessful one, at gene therapy (as well as the first case of medical transfer of foreign genes into humans not counting organ transplantation) was performed by geneticist Martin Cline of the University of California, Los Angeles in California, United States on 10 July 1980. (wikipedia.org)
After extensive research on animals throughout the 1980s and a 1989 bacterial gene tagging trial on humans, the first gene therapy widely accepted as a success was demonstrated in a trial that started on 14 September 1990, when Ashanthi DeSilva was treated for ADA-SCID. (wikipedia.org)
medical citation needed] Early clinical failures led to dismissals of gene therapy. (wikipedia.org)
In Jamaica, the greatest mortality occurs between 6 and 12 months old when 10% of patients die despite considerable experience in the diagnosis and therapy of the condition and absence of malaria. (who.int)

In general, cancer recurrence and metastasis are the result of the interactions of multiple mutated genes. (nature.com)
Some patients with breast cancer develop local recurrence after breast-conservation surgery despite postoperative radiotherapy, while others remain free of local recurrence even in the absence of radiotherapy. (lu.se)
This gene-expression profile provides substantially added value to conventional clinical markers, e.g., age, histological grade, and tumor size in predicting local recurrence despite radiotherapy. (lu.se)
The ROC-area for distinguishing patients that develop local recurrence from those that remain local-recurrence-free in the absence of radiotherapy was 0.66 (combined estrogen-receptor-positive/ estrogen-receptor-negative). (lu.se)
A highly distinct gene-expression profile for patients developing local recurrence after breast-conservation surgery despite radiotherapy has been identified. (lu.se)
Low recurrence across samples indicated that the majority of fusion genes were private passenger events. (broadinstitute.org)
They established that a specific DNA signature made up of 70 genes distinguished whether breast cancer tumors had a low or high risk of recurrence. (agendia.com)

5 Two distinct types of multiple endocrine neoplasias are associated with the RET and MEN1 6 genes while VHL alterations result in kidney and other types of cancer. (nature.com)
We found no association between alterations in PI3K pathway genes or alterations in the DNA damage repair genes BRCA2, BRCA1, and ATM with overall survival and time on treatment with an ARSI," the authors commented. (genengnews.com)
The purpose of this study was to assess the effect of gene alterations and tyrosine kinase inhibition (TKI) on median survival (MS) and cause of death (CoD) in patients with BM from lung adenocarcinoma (L-adeno). (healthpartners.com)
CONCLUSION: EGFR and ALK gene alterations are associated with delayed onset of BM and longer MS relative to patients without these alterations. (healthpartners.com)

Since 1947, Dana-Farber's sole focus has been to provide expert cancer care and groundbreaking treatments for adult and pediatric patients. (dana-farber.org)
Since the gene vectors used have proven to be safe, a follow-up study in pediatric CNGA3 patients is possible and useful," says Stylianos Michalakis from the Department of Ophthalmology at LMU. (zmescience.com)

The messenger RNA (mRNA) expression signature of the five genes was determined in 144 PCa and benign prostate specimens from. (lu.se)

To try and identify the most important prognostic markers in mCRPC, the investigators undertook a complete and comprehensive analysis of genetic, molecular, cellular, and clinical outcomes data from 444 tumor samples, taken from 429 patients. (genengnews.com)
Differential expression of amino acid metabolism-related genes (AAMRGs) was identified for prognostic gene selection. (frontiersin.org)
Patients and Methods We recently identified eight molecular prognostic biomarkers using two different genomic platforms. (eur.nl)

ABSTRACT This study aimed to evaluate the association of plasma MIF level and -173 G/C single nucleotide polymorphism of the MIF gene with the occurrence, severity and mortality of sepsis patients. (who.int)
High MIF levels and MIF -173G/C gene polymorphism are powerful predictors of the severity of sepsis and its outcome. (who.int)
Using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, we tested the genotype distribution of 100 migraine patients in comparison with 120 healthy migraine-free controls from the same geographical region. (scirp.org)
Conclusions: We conclude that MTHFR gene C677T polymorphism has no role in predisposition to the migraine in our population and cannot serve as a predictive factor for the risk of migraine. (scirp.org)
A deletion/insertion polymorphism (4G or 5G) in the promoter of the plasminogen activator inhibitor type 1 gene has been suggested to be involved in regulation of the synthesis of the inhibitor, the 4G allele being associated with enhanced gene expression. (unboundmedicine.com)
A relationship between 4G/5G polymorphism and PAI-1 levels was found in patients with cardiovascular and metabolic diseases, but not in healthy subjects. (unboundmedicine.com)
In the patient group, the mean PAI-1 antigen and activity levels were significantly higher than among controls and related to the 4G/5G polymorphism. (unboundmedicine.com)
In conclusion, in patients with deep vein thrombosis the 4G polymorphism of PAI-1 gene promoter may influence the expression of PAI-1 and it should be taken into consideration as a facilitating condition for pathological fibrinolysis together with other environmental and genetic factors. (unboundmedicine.com)

Most patients carry a missing or damaged p53 gene, a tumor suppressor whose activity is impaired in almost 50% of all cancers. (nature.com)
Here, we investigate the fusion gene landscape in triple-negative breast cancer (TNBC) and high-grade serous ovarian cancer (HGSOC), two subtypes of female cancers with high molecular similarity but limited treatment options at present. (broadinstitute.org)
Smoking increases the risk for KRAS-mutant lung cancers, while patients with lung cancer who are non-smokers more often develop EGFR-mutant lung cancer," Meyerson said. (dana-farber.org)

This study is investigating if specific genes are "up" or "down" regulated in patients with PV. (cdc.gov)

Nine patients aged 2 to 27 years - four in Europe and five in the USA - were treated in clinical trials. (b-s-h.org.uk)

In addition, no colistin-resistant organisms were detected among 51 ESBL-producing isolates prospectively collected over a 30-day period from the four facilities to which the index patient was admitted in 2016. (cdc.gov)
In July, mcr-1 in E. coli was identified from a patient specimen collected in New York in 2015 ( 3 ), and mcr-2, another colistin-resistance gene, was discovered in porcine and bovine E. coli isolates ( 4 ). (cdc.gov)
The complete mcr-1 gene found in PCR-positive isolates was amplified and sequenced by specific primers. (cdc.gov)
Of the 5 mcr-1 -positive isolates, 2 were from blood cultures from patients with biliary tract infection, 1 from a mid-stream urine specimen from a patient with symptomatic urinary tract infection, and 2 from stool specimens from asymptomatic patients. (cdc.gov)
Whether the variation results from the differential expression of the mcr-1 gene or from potentially unidentified colistin resistance mechanisms co-existing in some isolates is unknown ( 8 ). (cdc.gov)
Gram-negative bacilli were the most common isolates in both severe sepsis (63.0%) and sepsis (56.0%) patients. (who.int)
Subsequently, the proportion of E. coli isolates with PA ESBL genes, plasmids and strains was quantified in a representative sample of clinical isolates. (who.int)
Isolates were analysed using an ESBL-specific microarray, sequencing of ESBL genes, PCR-based replicon typing of plasmids, plasmid multi-locus sequence typing (pMLST) and strain genotyping (MLST). (who.int)
Six ESBL genes were defined as PA (bla(CTX-M-1) , bla(CTX-M-2) , bla(SHV-2) , bla(SHV-12) , bla(TEM-20) , bla(TEM-52) ): 35% of the human isolates contained PA ESBL genes and 19% contained PA ESBL genes located on IncI1 plasmids that were genetically indistinguishable from those obtained from poultry (meat). (who.int)

Health departments are encouraged to rapidly investigate reports of colistin-resistant bacteria to prevent transmission to other patients and thereby decrease the risk for transmitting plasmid-encoded genes to bacteria that might already contain other resistance genes. (cdc.gov)
Evidence for wastewaters as environments where mobile antibiotic resistance genes emerge. (janusinfo.se)

CHENGDU, China and ROCKAWAY, N.J. , Nov. 20, 2023 /PRNewswire/ -- Chengdu Origen Biotechnology Co., Ltd. ("Chengdu Origen") and Vanotech Ltd. ("Vanotech") announced today the first patient dosed in the VAN-2201 multi-center Phase 1 clinical trial evaluating treatment with KH631 for patients with wet Age-related Macular Degeneration (wet AMD). (wboy.com)
Genes (Basel);14(8)2023 07 26. (bvsalud.org)

To define subtypes of PCa for treatment guidance, we examined mRNA expression signature of an eight-gene panel in 87 PCa specimens from prostatectomy. (lu.se)
They integrated data from whole exome sequencing, gene expression, and histopathological analyses, in combination with patient survival, and duration of treatment with the androgen receptor (AR) signaling inhibitor (ARSI) drugs enzalutamide and abiraterone acetate. (genengnews.com)
The integrated Gene Expression Omnibus (GEO) dataset with 1,430 colon cancer samples was used for validation. (frontiersin.org)
Plasma and/or sera of 221 COVID-19 patients from different cohorts, infected with successive SARS-CoV-2 variants including the Omicron, had detectable HERV-W ENV, which correlated with ENV expression in T lymphocytes and peaked with the disease severity. (unmc.edu)
Altogether, these results demonstrate that SARS-CoV-2 could induce HERV-W envelope protein expression and suggest its involvement in the immunopathogenesis of certain COVID-19-associated syndromes and thereby its relevance in the development of personalized treatment of patients. (unmc.edu)
As clinical parameters are insufficient for identifying these two groups of patients, we investigated if gene-expression profiling would add further information. (lu.se)
Differential gene expression analysis was performed to assess the function of fusion genes in silico. (broadinstitute.org)
Gene expression of FOXP1 was significantly elevated in patients with vs. without FOXP1 fusion (P= 0.02). (broadinstitute.org)
Weeks after the functional version of the gene is introduced in the target site, its expression starts producing proteins that should restore the function of the defective cones. (zmescience.com)
P values were adjusted with a multivariate linear regression model and represent the influence of leprosy on the gene expression levels. (ajtmh.org)
Dr. Louis Flamand's laboratory in Quebec, Canada, has published an article with evidence that points toward a detailed mechanism for inhibition of IL-2 gene expression by HHV-6. (hhv-6foundation.org)
Mathieu Iampietro, a graduate student in Dr. Flamand's laboratory, set out to identify this theorized key component, and after screening several structural candidate proteins, the U54 tegument protein of HHV-6B was identified as playing an important role in preventing IL-2 gene expression. (hhv-6foundation.org)
We further demonstrated the role of DYNC1I1 eExons in regulating DLX5/6 expression by means of showing a reduced expression of the DLX5/6 genes through RT-PCR in a patient -derived lymphoblastoid cell line . (bvsalud.org)
The first example describes a research project involving sequencing based gene expression analysis and the second example describes a microarray service facility use of BASE. (lu.se)
Analyses include generation of gene expression and sequencing data with the ultimate goal to build an infrastructure for future real-time clinical implementation. (lu.se)

The AR findings indicate that targeting androgen receptor signaling using current ARSI approaches may not be complete, and that "further targeting of the protein may be clinically beneficial in patients who develop resistance to these agents. (genengnews.com)
The gene produces a miniature version of a protein called dystrophin, that boys with muscular dystrophy are missing or don't have enough of. (wemu.org)
The disease is an autosomal dominant condition with a disease-causing CAG repeat expansion in the first exon of the huntingtin gene that leads to the production and aggregation of abnormal protein in the brain. (biospace.com)
The disease occurs due to a defective gene that results in absence of dystrophin, a protein that helps keep the body's muscle cells intact. (scienceboard.net)
This rare and fatal type of CMT is recessive and leads to a loss of the CNTNap1 gene and its protein product, CASPR which disrupts the myelinating cells from the signal transmitting nerve cell axons. (hnf-cure.org)
New emm (M protein gene) sequences of group A streptococci isolated from Malaysian patients. (cdc.gov)
In a study by Martinez et al, 10 of 60 patients (17%) had an acute ischemic stroke that was attributed to deficiencies in protein C, protein S, or ATIII. (medscape.com)
No clear-cut association has been found between protein C or ATIII deficiency and arterial strokes, although patients with low protein C levels at the time of acute stroke have poor outcomes. (medscape.com)
However, a prospective study did find free protein S deficiency in 23% of young patients with stroke of uncertain cause, but this finding could be associated with higher levels of C4b (an acute phase reactant that decreases free protein S levels). (medscape.com)

Methods: This case-control study conducted in Srinagar, Kashmir (North India) between 2013 and 2015 was designed to evaluate risk induced due to MTH-FR 677C>T gene polymorphisms to contribute in susceptibility for migraine in Kashmir population (North India). (scirp.org)
METHODS: A multi-institutional retrospective database of patients with L-adeno and newly diagnosed BM between 2006 and 2014 was created. (healthpartners.com)
Several methods to do so were tested, including injecting genes with a micropipette directly into a living mammalian cell, and exposing cells to a precipitate of DNA that contained the desired genes. (wikipedia.org)
Three hundred clinical samples were collected from male and female in and out-patients of all ages and processed using standard bacteriological methods. (who.int)

Germline variants such as BRCA1/2 play an important role in tumorigenesis and clinical outcomes of cancer patients. (nature.com)
The challenge remains in using these inherited germline variants to predict clinical outcomes of cancer patient population. (nature.com)
Hence, germline genomic information could be used for developing non-invasive genomic tests for predicting patients' outcomes in breast cancer. (nature.com)
Hence, pre-existing germline variants provide a profound constraint on the evolution of tumor founding clones and subclones and therefore have a contingent effect on the genetic makeup of tumor and presumably patient outcomes. (nature.com)
9 Here we reasoned that the collective impact of germline variants in cancer patients might largely determine tumorigenesis, evolution, and even clinical outcomes. (nature.com)
Thus, our approach of performing a cardiomyopathy gene panel to identify pathogenic variants as directly causal or as modifiers for worse outcomes in hypoplastic left heart syndrome is not useful in clinical practice at the moment. (helsinki.fi)

Our study really got under the bonnet of prostate cancer to understand the 'engine' driving tumor growth and explore how a wide range of genes affect the disease and its response to treatment," stated study co-author Johann de Bono, MD, PhD, Regius professor of cancer research at The Institute of Cancer Research, London, and consultant medical oncologist at The Royal Marsden NHS Foundation Trust. (genengnews.com)
26,824 reporters) on 143 patients with lymph-node-negative disease and tumor-free margins. (lu.se)
Fusion genes can be therapeutically relevant if they result in constitutive activation of oncogenes or repression of tumor suppressors. (broadinstitute.org)
Using 304 relevant samples from TCGA, we assessed immune cell function in CESC patients to better understand the status of both tumor micro-environment cells and immune cells in CESC. (techscience.com)
The goal was to cure malignant brain tumors by using recombinant DNA to transfer a gene making the tumor cells sensitive to a drug that in turn would cause the tumor cells to die. (wikipedia.org)

Using genetic engineering techniques, the researchers inserted the antitat gene into a mouse retrovirus that can enter cells that are potential sites for HIV replication. (sciencedaily.com)
Now that the treatment is deemed safe, the researchers plan on repeating the trial with patients who are still children, whose brain plasticity and retinal tissue hasn't suffered as much damage as adult patients. (zmescience.com)
On Wednesday, researchers revealed the first evidence that the approach appears to be working - improving vision for at least some patients with the condition, known as Leber congenital amaurosis , or LCA, a severe form of vision impairment. (wfdd.org)
But the current results are so promising that the researchers have gotten the go-ahead to move on to the next group of patients. (wfdd.org)
In 1968, researchers Theodore Friedmann, Jay Seegmiller, and John Subak-Sharpe at the National Institutes of Health (NIH), Bethesda, in the United States successfully corrected genetic defects associated with Lesch-Nyhan syndrome, a debilitating neurological disease, by adding foreign DNA to cultured cells collected from patients suffering from the disease. (wikipedia.org)

Use of two gene panels for prostate cancer diagnosis and patient risk stratification. (lu.se)
The two biomarker panels may be used in clinical settings for accurate PCa diagnosis and patient risk stratification for biomarker-guided treatment. (lu.se)
We believe this will speed-up the genetic testing and therefore the diagnosis for patients. (qmul.ac.uk)
Thus, by evaluating these two genes, patients may obtain an early diagnosis, and early prophylactic measurements may be obtained. (molvis.org)
The diagnosis of KS is established in patients with typical clinical manifestations and is based on the identification of either biallelic FERMT1 pathogenic variants on molecular genetic testing or suggestive histologic findings and/or immunolabeling on skin biopsy ( 1 ). (spandidos-publications.com)
Using medical records of patients with a diagnosis of PV, this study determined if the diagnosis was correct, if the cases were reported to the cancer registry, and if the doctor used the JAK2V617F test to help diagnose PV. (cdc.gov)
The diagnosis is made by genetic analysis of the prothrombin 20210 gene using blood samples. (msdmanuals.com)

This is owing to its involvement in the evolution of MDR strains and difficulty in therapeutic management of infected patients. (who.int)

An improved mechanistic understanding of fusion genes will support the future identification of innovative therapeutic approaches for these challenging diseases. (broadinstitute.org)
The first therapeutic use of gene transfer as well as the first direct insertion of human DNA into the nuclear genome was performed by French Anderson in a trial starting in September 1990. (wikipedia.org)
The most common form uses DNA that encodes a functional, therapeutic gene to replace a mutated gene. (wikipedia.org)

These findings suggest that the risk for transmission from a colonized patient to otherwise healthy persons, including persons with substantial exposure to the patient, might be relatively low. (cdc.gov)
These findings may indicate the potential of KH631 to offer a single administration treatment for wet AMD patients. (wboy.com)

The urine culture and subsequent testing identified the gene in an extended-spectrum beta-lactamase (ESBL)-producing E. coli with reduced susceptibility to colistin. (cdc.gov)
Therefore, distribution of ESBL genes, plasmids and strain genotypes in Escherichia coli obtained from poultry and retail chicken meat in the Netherlands was determined and defined as 'poultry-associated' (PA). (who.int)

The frequencies of alleles ε 2, ε 4, and genotypes ε 3/ ε 4 and ε 3/ ε 2 were significantly higher in psoriasis patients compared with those in controls. (hindawi.com)

Gene signatures derived from the genes containing functionally germline variants significantly distinguished recurred and non-recurred patients in two ER+ breast cancer independent cohorts ( n = 200 and 295, P = 1.4 × 10 −3 ). (nature.com)
The frequency of ε 3 allele and ε 3/ ε 3 genotype was significantly lower in patients. (hindawi.com)
The serum cholesterol, triglycerides, and LDL levels were significantly higher in psoriasis patients contrary to HDL level. (hindawi.com)
Patients with APOE ε 4 had significantly higher levels of total cholesterol and LDL cholesterol, whereas those with the ε 2 had higher HDL cholesterol, and triglycerides. (hindawi.com)
What's more, such patients can also suffer from other problems with vision, including increased sensitivity to light and glare (photophobia), involuntary back-and-forth eye movements (nystagmus), and significantly reduced sharpness of vision (low visual acuity). (zmescience.com)
The 5G allele frequency was reduced, even though not significantly, in DVT patients compared to healthy subjects (0.40 vs. 0.51, respectively). (unboundmedicine.com)

To investigate the association between the programmed death-1(PD-1) polymorphisms and genetic susceptibility of chronic hepatitis B virus (HBV) infection in Chinese patients. (wjgnet.com)
A, were genotyped in 539 patients with chronic HBV infection and 353 other family members (HbsAg-) from 256 nuclear families using polymerase chain reactiorestriction fragment length polymorphisms assay. (wjgnet.com)
The data demonstrated that PD-1.1 and PD-1.2 polymorphisms are not associated with chronic HBV infection in Chinese patients. (wjgnet.com)

In the present work we studied the distribution of PAI-1 4G/5G genotype and its relation to fibrinolytic capacity in 70 unrelated patients with deep vein thrombosis. (unboundmedicine.com)
This occurs in 5-7% of the normal population, 20% of patients with deep vein thrombosis (DVT), and 60% with recurrent DVT. (medscape.com)

In May 2016, mcr-1 -positive Escherichia coli was first isolated from a specimen from a U.S. patient ( 2 ) when a Pennsylvania woman was evaluated for a urinary tract infection. (cdc.gov)
More importantly, antitat also inhibited virus activation and replication in blood immune cells (peripheral blood mononuclear cells) taken from actual patients with HIV infection. (sciencedaily.com)
Further studies will be needed to demonstrate whether this approach will be effective in patients with HIV infection. (sciencedaily.com)

KS is inherited in an autosomal recessive manner and FERMT1 has been identified to be a pathogenic gene ( 1 ). (spandidos-publications.com)
None of the patients had pathogenic or likely pathogenic variants in the studied cardiomyopathy-associated genes. (helsinki.fi)

we identified a deletion in 7q21, not involving the DLX5/6 genes , but including exons 15 and 17 of DYNC1I1, known to act as exonic enhancers (eExons) of the DLX5/6 genes . (bvsalud.org)

In 1961, she managed to genetically alter the hemoglobin of cells from bone marrow taken from a patient with sickle cell anaemia. (wikipedia.org)
The cytogenetic study is assessing if PV patients living in the cluster area are genetically prone to develop the disease. (cdc.gov)

HAART, a combination of drugs, decreases HIV replication to undetectable levels in many patients, confining the virus in a latent state. (sciencedaily.com)

Apolipoprotein E (APOE) gene variants have been reported to influence psoriasis risk. (hindawi.com)

These results suggest that, with further work, this technique may keep HIV-infected patients free of disease symptoms," said the study's senior author, Wenzhe Ho, M.D., of the Division of Immunologic and Infectious Diseases at The Children's Hospital of Philadelphia. (sciencedaily.com)
Sarepta based its request on how much micro-dystrophin it produces in patients' muscles - without direct evidence that's actually helping alleviate symptoms and prevent disease progression. (wemu.org)

Consequently, the discovery of the plasmid-mediated colistin-resistant gene mcr-1 in Escherichia coli ( 1 ) raises concern in the medical community because colistin might be useless in treating infections caused by mcr-1 -carrying Enterobacteriaceae . (cdc.gov)

A study was conducted in adult surgical intensive care units of Zagazig University Hospitals, Egypt on 25 patients with sepsis, 27 with severe sepsis and 28 controls. (who.int)

Reports indicate that a G-to-A transition at nucleotide position 20210 (G20210A) in the prothrombin gene is considered a risk factor for cerebral venous thrombosis. (medscape.com)

Anti-VEGF treatments reduce leakage and fluid accumulation, thereby restoring normal retinal architecture and function, in many patients. (wboy.com)
Supporting patients and families with critical information to improve quality of life, and funding research that will lead to treatments and cures. (hnf-cure.org)
Pediatricians and general practitioners will be central to finding and monitoring the patients that need these treatments. (medscape.com)

In 2015, scientists reported the emergence of the plasmid-encoded mcr-1 gene conferring bacterial resistance to the antibiotic colistin ( 1 ), signaling potential emergence of a pandrug-resistant bacterium. (cdc.gov)

Results of lipid profile support that psoriasis is one of the independent risk factors for hyperlipidemia and emphasize the need of screening cardiovascular diseases in psoriatic patients. (hindawi.com)
The research results, reported in the Proceedings of the National Academy of Sciences ( PNAS ), also suggest that some prostate cancer patients may respond to treatment using an existing breast cancer drug combined with immunotherapy. (genengnews.com)
None of the patients had complications that you might normally see from donor cells and the results were as good as you'd get from a donor transplant, or better," said Dr Kohn. (b-s-h.org.uk)
(A) Patient timeline of key clinical events and laboratory test results. (frontiersin.org)
RESULTS: Of 1521 L-adeno patients, 816 (54%) had known alteration status. (healthpartners.com)
The results of the multi‑gene panel test were further verified by Sanger sequencing. (spandidos-publications.com)

Sickle-cell anaemia (also known as sickle-cell disorder or sickle-cell disease) is a common genetic condition due to a haemoglobin disorder - inheritance of mutant haemoglobin genes from both parents. (who.int)
Globally, there are more carriers (i.e. healthy people who have inherited only one mutant gene from one parent) of thalassaemia than of sickle-cell anaemia, but the high frequency of the sickle-cell gene in certain areas leads to a high rate of affected newborns. (who.int)
Although a single abnormal gene may protect against malaria, inheritance of two abnormal genes leads to sickle-cell anaemia and confers no such protection, and malaria is a major cause of ill-health and death in children with sickle-cell anaemia. (who.int)
There are, however, no firm data on the survival of patients with sickle-cell anaemia on the African continent. (who.int)

None of the 5 patients had a history of colistin treatment. (cdc.gov)
The antitat gene offers the possibility of prolonging the latency period indefinitely without the need for long-term antiretroviral treatment," said Stuart E. Starr, M.D., chief of Immunologic and Infectious Diseases at The Children's Hospital of Philadelphia, and a co-author of the study. (sciencedaily.com)
The treatment, called Elevidys , will cost $3.2 million for each patient, the company announced shortly after the approval. (wemu.org)
Wilson Disease , a rare genetic disorder with no cure, has evaded comprehensive treatment for generations of patients. (ucdavis.edu)
Finding a treatment that could address the underlying cause would tremendously improve the quality of life for patients suffering from the disease. (ucdavis.edu)
If successful, this one-time treatment will correct the underlying defect and allow patients to stop their oral medications. (ucdavis.edu)
The treatment is far from curing the patients in the trial, but the changes some experienced are significant enough to have a meaningful impact on their daily lives. (wfdd.org)
Helpful patient care resources for the treatment & management of CMT. (hnf-cure.org)
This was a cross sectional hospital- vancomycin as the drug of choice in the treatment of based study involving 300 patients of all ages with 6 infections caused by MRSA. (who.int)

Meanwhile, new insights into the metabolic signatures of tumors have revealed the potential of risk prediction model, which is based on the amino acid metabolism-related genes (AAMRG) ( 13 , 14 ). (frontiersin.org)

The sickle-cell gene has become common in Africa because the sickle-cell trait confers some resistance to falciparum malaria during a critical period of early childhood, favouring survival of the host and subsequent transmission of the abnormal haemoglobin gene. (who.int)

Study of this patient and his siblings showed a distinct form of late-onset diabetes associated with nerve deafness but no clinical features of the MELAS syndrome. (nih.gov)
A study conducted in cell cultures, headed by a research team at The Children's Hospital of Philadelphia, has shown that inserting a beneficial gene into blood immune cells taken from patients infected with HIV blocked the AIDS virus from replicating in those cells. (sciencedaily.com)
Hence, this study set out to identify and validate a small, clinically applicable immunohistochemistry (IHC) panel for prognostication in patients with EAC. (eur.nl)
The project is centred on a prospective study where all new breast cancer patients in southern Sweden are asked to enrol. (lu.se)

For this patient, we hypothesized that an altered FA pathway resulted in genomic instability, hypersensitivity to DNA-crosslinking agents or cytotoxic chemotherapeutics, and unsuccessful DNA damage repair. (frontiersin.org)
Functional enrichment analysis, pathway enrichment analysis, and PPI network construction were performed to explore the differentially expressed genes (DEGs). (techscience.com)

Mutations37

Mutation15

Therapies11

Cohort6

Multiple genes3

Treated using gene t1

Patient's8

Prevalence9

Therapy80

Recurrence7

Alterations4

Pediatric2

Five genes1

Prognostic3

Polymorphism8

Cancers3

Specific genes1

CLINICAL TRIALS1

Isolates9

Resistance genes2

20232

Expression15

Protein9

Methods4

Outcomes6

Tumor5

Researchers5

Diagnosis7

Strains1

Therapeutic3

Findings2

ESBL2

Genotypes1

Significantly6

Polymorphisms3

Deep vein throm2

Infection3

Pathogenic2

Exons1

Genetically2

Latent1

Variants have been reported1

Symptoms2

Colistin-resistant1

Adult1

Prothrombin1

Treatments3

Antibiotic1

Results6

Sickle cell an4

Treatment9

Tumors1

Abnormal1

Study4

Pathway2