International Genetics and Genomics of Diseases

The future of poultry genetic improvement is bright Poultry genetics companies are prioritizing new research and technology to meet the needs of hungry consumers worldwide. Genetics have improved significantly across all sectors of agriculture over the last few decades, from feed ingredients, to cotton production and in animal agriculture, especially in the broiler industry, explained genetics company Cobb Research and Development Vice President William Herring at the 2024 Chicken Marketing Summit . “We're becoming more efficient. We're doing more with less resources,” he stated. “I don't think there's any end in sight to genetic progress or genetic change. We don't see that across agriculture anywhere, and we certainly don't see it in broiler genetics .” To help advance poultry genetics further, Cobb created a program called “ Cobb’s Proving Grounds ,” which is focused on generating a large amount of data to improve its currents products and create new ones. A...

Homozygosity for a stop-gain variant in  CCDC201  causes primary ovarian insufficiency Age at menopause (AOM) has a substantial impact on fertility and disease risk. While many loci with variants that associate with AOM have been identified through genome-wide association studies (GWAS) under an additive model, other genetic models are rarely considered. Here through GWAS meta-analysis under the recessive model of 174,329 postmenopausal women from Iceland, Denmark, the United Kingdom (UK; UK Biobank) and Norway, we study low-frequency variants with a large effect on AOM. We discovered that women homozygous for the stop-gain variant rs117316434 (A) in CCDC201 (p.(Arg162Ter), minor allele frequency ~1%) reached menopause 9 years earlier than other women (P = 1.3 × 10−15). The genotype is present in one in 10,000 northern European women and leads to primary ovarian insufficiency in close to half of them. Consequently, homozygotes have fewer children, and the age at last childbirt...

Hyderabad’s NIMS-CDFD researchers discover new genetic disease NIMS and CDFD discover new genetic disease, ‘lethal serpinopathy’, expanding knowledge of genetic disorders Hyderabad’s Nizam’s Institute of Medical Sciences (NIMS) and the Centre for DNA Fingerprinting & Diagnostics (CDFD) have identified a previously unknown genetic disease, expanding the understanding of the thousands of genetic disorders known to medical science. Globally, around 6,000 to 7,000 genetic diseases have been documented and the advancements in next-generation sequencing technology are enabling scientists to uncover new genetic conditions. In this study, the teams from NIMS and CDFD collaborated to investigate a couple’s tragic case, where their infants suffered from severe fluid accumulation in body cavities and organs, leading to premature death. The discovery came after Head of the Department of Medical Genetics at NIMS Dr. Shagun Aggarwal along with Additional Professor Dr. Prajnya Ranganath and the...

Fish Oil Supplementation May Reduce Genetic Risk of High Cholesterol Fish oil and other omega-3 supplements may reduce the genetic risk of high total cholesterol and low-density lipoprotein (LDL) cholesterol, according to data published in The American Journal of Clinical Nutrition . The authors’ findings indicate that individuals who reported regular supplementation of fish oil had lower blood lipid levels, especially for total cholesterol, LDL cholesterol, and triglycerides. Many patients turn to fish oil supplements, and they are frequently suggested by pharmacists as a method for increasing omega-3 fatty acid intake. Studies indicate that omega-3s have anti-inflammatory properties that may provide relief from mild inflammation or joint pain, and fish oil supplementation, specifically eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA), may protect the heart by reducing triglyceride concentrations. It is important to know which patients may benefit from omega-3 supplements t...

Paige Launches AI Tool that Screens 505 Genes for Improved Cancer Diagnosis AI startup Paige launched a new AI product this week. The New York City-based company unveiled an AI-powered biomarker module that the company says can evaluate more than 505 genes and identify 1,228 molecular biomarkers from standard pathology slides. The new product, called OmniScreen, analyzes digital images of cancer tissue slides that are stained using hematoxylin and eosin (H&E). “These slides contain important visual patterns linked to genetic changes in cancer cells. By training our AI on three million of these images, it learns to recognize patterns and in turn detects genetic mutations or biomarkers that are often used to guide cancer treatment decisions,” explained Razik Yousfi, Paige’s CEO and chief technology officer. In oncology, gene mutations are important in determining what type of cancer a patient has and what treatments will be most effective, he noted. When people hear “ breast cancer...

12-year genetic study identifies unique types of multiple myeloma An unprecedented effort to sequence the genome, exome and RNA in tumors from patients with multiple myeloma defines distinct subtypes of the disease, according to an international team of scientists led by researchers from the Translational Genomics Research Institute (TGen), part of the City of Hope. The findings of the 12-year observational study provide a clearer picture of the genetic changes that may be important in each subtype of this cancer of our antibody producing plasma cells, which is treatable but incurable. This information could help guide more personalized treatments in the future, the researchers write in Nature Genetics. The scientists identified the genetic basis for a high-risk patient population, named "PR," that is associated with a median survival of under two years compared to the average survival in the study that exceeds eight years. About 25% of patients transitioned to the PR subt...

The bacteria that write new genes to cope with infections Amid the unprecedented challenges presented by the COVID-19 pandemic, a once obscure enzyme found itself in the spotlight: reverse transcriptase. As laboratories worldwide rushed to develop reliable diagnostic tests, techniques using the enzyme became the gold standard to detect the SARS-2 virus, and a cornerstone of molecular diagnostics. This remarkable enzyme didn’t only facilitate rapid and accurate testing; along with another powerful approach — genome-sequencing — it also helped track the virus’s spread, paving the way for surveillance, better public healthcare, and vaccine development. The discovery of reverse transcriptase is a story unto itself. Researchers in the labs of Howard Temin and David Baltimore independently discovered it and published their findings in back-to-back articles in the journal Nature in 1970. In his paper, Dr. Baltimore suggested that in the vesicular stomatitis virus, a protein called RNA polyme...

Study reveals previously unknown genetic causes of colorectal cancer Cancers develop partly through genetic abnormalities within cells of the body. Colorectal cancer is a major cause of death worldwide, but we don’t yet have a full understanding of the genetic changes that cause it to grow. New research - published today in Nature - delivers an unprecedented view of the genetic landscape of CRC and its responses to treatment. Utilising data from 2,023 bowel cancers from the 100,000 Genomes Project led by Genomics England and NHS England, the research team has identified new gene faults that lead to CRC. They’ve also uncovered new CRC cancer sub-groups (categories of cancer with specific genetic characteristics that affect how cancer behaves and responds to treatment). These findings offer profound insights into the disease's development and potential treatment strategies. Key Findings of the Study: • Identification of Over 250 Key Genes: The study has pinpointed more than 250 genes...

Scientists identify genes linked to relapse in the most common form of childhood leukemia Researchers identified genetic predictors of relapse in standard risk B-cell acute lymphoblastic leukemia highlighting the role of genetic testing in tailoring therapy. Scientists from St. Jude Children’s Research Hospital, Seattle Children’s and the Children’s Oncology Group (COG) have identified novel genetic variations that influence relapse risk in children with standard risk B-cell acute lymphoblastic leukemia (SR B-ALL), the most common childhood cancer. The identification of genomic predictors of relapse in SR B-ALL provides a basis for improved diagnosis, precise tailoring of treatment intensity and potentially the development of novel treatment approaches. The study was published today in the Journal of Clinical Oncology. Standard risk ALL has an excellent prognosis, with remission rates over 90%. However, around 15% of patients who achieve remission later experience a relapse. Previous...