Drug Discovery World

MARCH 1, 2023

DDW’s Megan Thomas spoke with Singh about SLAS2023, where he presented Image-based screening of pooled genetic libraries. This is a challenging way to conduct large genetic screens because it requires careful handling of thousands of samples, often using specialised automation, and introduces batch effects across samples.

Genetics 52

Genetics Genome Genomics Genotype 52

Drug Discovery World

JULY 3, 2023

PrecisionLife and the University of Oxford have signed a data access agreement to license the Oxford Endometriosis Gene (OXEGENE) dataset to develop new personalised treatments for endometriosis patients. Endometriosis affects 10% of women globally, but on average it takes over seven years for patients to receive a diagnosis.

Genetics 52

Genetics Genotype Medicine Licensing 52

Drug Discovery World

DECEMBER 12, 2023

Context and treatment potential AATD is an inherited, autosomal recessive genetic disorder that is most frequently caused by a single nucleotide variant (SNV) mutation in the SERPINA1 gene, the most common of which is the ‘PiZ’ mutation.

RNA 52

RNA In-Vivo Genotype Genetics 52

Roots Analysis

APRIL 28, 2024

Factors Contributing to Kidney Diseases There are several factors which contribute to an increased risk of developing kidney diseases, including genetic causes and underlying metabolic causes ( diabetes, high blood pressure, aging and obesity ), which when combined with other factors increase the risk of developing kidney diseases.

Genetics 40

Genetics Genotype Development FDA Approval 40

Drug Discovery World

OCTOBER 30, 2023

RA: You’ve recently announced a collaboration with the University of Oxford to access genotype data on women with endometriosis. We previously conducted a hypothesis-free study using genotype data from the UK Biobank, which resulted in the first mechanism-based stratification of endometriosis patients.

Genome 72

Genome Genomics Genotype Clinical Trials 72

Roots Analysis

AUGUST 31, 2023

According to a study, around 20,000 genes are present in the human body, all of which interact with the nutrients in the food, either directly or indirectly. For instance, carbohydrates increase the expression of genes responsible for the synthesis of enzymes and transporters involved in their metabolism.

Genome 40

Genome Genomics Genetics Gene 40

XTalks

APRIL 15, 2021

A 2015 study published in Nature Genetics found that the availability of human genetic data made investigational drugs twice as likely to pass pivotal trials and eventually be approved. Figure 1: The use of Mendelian randomization to validate genetic drug targets.

Development 98

Development Drugs Genome Genomics 98

XTalks

NOVEMBER 10, 2020

Expeditious and accurate diagnoses are necessary for patients to access healthcare services and treatment options for rare genetic diseases. Increasing the efficiency of case analysis and interpretation is essential to providing timely care for patients with genetic diseases.

Genome 98

Genome Genomics Medicine Genetic Disease 98

Bioengineer

JANUARY 16, 2024

In patients with T790M mutant NSCLC receiving osimertinib, 63% experienced loss of T790M at progression, commonly linked to histological transdifferentiation, KRAS mutations, or gene fusions. In the same study, those with T790M loss had a shorter treatment duration (6.1 months vs. 15.2 months, p = 0.01).

Genome 119

Genome Genomics Protein In-Vitro 119

pharmaphorum

JANUARY 16, 2023

The study by a team at the Universities of East Anglia and Edinburgh shows that HRT use is associated with better memory, cognition, and larger brain volumes in later life among women carrying the APOE4 gene, a well-established risk factor for Alzheimer’s.

Hormones 73

Hormones Genotype Research Genetics 73

XTalks

SEPTEMBER 28, 2020

The test is based on the detection of actionable genes – genes with known driver mutations that can be targeted by an approved therapy (or investigational therapies in clinical trials). The panel of genes in the test only include known NSCLC-associated genes, making the test specific to the disease. Personalized Approach.

Gene 105

Gene DNA Life Science Genotype 105

pharmaphorum

AUGUST 11, 2022

Pharmacogenomics, the understanding of how genes impact an individual’s response to medications, provides a potential outlet to better optimised therapies. The participants undergo monitoring for genetic variations that could potentially negatively impact their reaction to therapies. About the Author.

Genome 97

Genome Genomics Genetics Drugs 97

The Pharma Data

NOVEMBER 2, 2020

ONWARD is investigating Adial’s lead drug candidate, AD04, as a therapeutic agent for the treatment of Alcohol Use Disorder (AUD) in persons with certain target genotypes related to the serotonin transporter and receptor genes. Key ONWARD highlights include: All 25 planned investigative sites are active.

Trials 52

Trials Genotype Marketing Production 52

pharmaphorum

OCTOBER 9, 2020

The rare, X-linked genetic condition is characterised by short stature and facial, limb and genital abnormalities and was first described in 1970. Because Aarskog is an X-linked genetic condition affecting predominantly males, women have traditionally been considered asymptomatic carriers. No one would listen.”.

Research 108

Research Genetics Genotype Nurses 108

XTalks

DECEMBER 12, 2023

In some areas, say Alzheimer’s disease, we have growing collections of imaging, gene, cerebrospinal fluid (CSF) and blood markers to follow and look at target engagement of our drugs,” says James Vornov, MD, PhD, Vice President of the Medical Department at Medpace.

Trials 111

Trials Clinical Trials Clinical Trials Genetics 111

XTalks

MARCH 3, 2021

The US Food and Drug Administration (FDA) has granted approval to Nulibry (fosdenopterin) for reducing the risk of death associated with molybdenum cofactor deficiency type A (MoCD Type A), making it the first treatment for the ultra-rare, genetic metabolic disorder. The approval was granted to BridgeBio Pharma, Inc.

FDA Approval 64

FDA Approval Genotype Clinical Trials Clinical Trials 64

The Pharma Data

NOVEMBER 18, 2020

HIV drug resistance is caused by changes in the genetic structure of HIV that affects the ability of drugs to block the replication of the virus. such as the integrase gene and assay validation recommendations. The recommended specimen types for HIV drug resistance genotyping are plasma or dried blood spots.

Drugs 52

Drugs Genotype Medicine Development 52

The Pharma Data

DECEMBER 9, 2020

The Chinese biopharmaceutical industry is growing in leaps and bounds, but there is still a huge unmet need when it comes to getting patients access to the breakthrough therapeutic modalities and platforms like RNAi, cell and gene therapy and others. A solution could be at hand with Overland Pharmaceuticals.

In-Vivo 52

In-Vivo In-Vitro Antibody Development 52

Drug Discovery World

JULY 15, 2022

This three dimensional packing of DNA is crucial for gene regulation and for the DNA to fit into the cells because the total length of cellular DNA in cells is up to a hundred thousand times the cell’s length. iv) Highly repetitive regions contain some of the highest mutation rates.

Genome 52

Genome Genomics DNA Containment 52

The Pharma Data

NOVEMBER 24, 2020

PH1 is an ultra-rare genetic disease characterized by oxalate overproduction. About Primary Hyperoxaluria Type 1 (PH1) PH1 is an ultra-rare genetic disease that affects an estimated one to three individuals per million in the United States and Europe. Oxlumo should be administered by a healthcare professional.

FDA Approval 52

FDA Approval Production RNA Medicine 52