Molecular Awards

Introduction Primary primitive neuroectodermal tumor (PNET) is a highly malignant tumor characterized by neuroectodermal and neural crest cells’ origin, most of which arise from the central nervous system, soft tissues, and bones (Rajwanshi et al., 2009). In more than 90% of PNET cases, chromosomal translocations result in the fusion between the EWS gene (also known as EWSR1, Ewing sarcoma breakpoint region 1) and a member of the ETS family of transcription factors, such as FLI1 and ERG (Song et al., 2012). In this article, we presented a case of cervical PNET diagnosed during pregnancy whose tumor grew very rapidly. The patient terminated her pregnancy, and was treated with surgical resection, adjuvant chemotherapy, followed by pelvic radiotherapy. To gain a deeper understanding of this rare disease, we reviewed PNET-related literature and found 26 cases of primary cervical PNET, including 5 cases occurring during pregnancy. Case report A 29-year-old female, gravida 1 para 0, was refe...

A rare genetic mutation that has been linked to longevity also protects against heart disease.A new study highlights possible cardiovascular health advantages in individuals with a rare condition known as growth hormone receptor deficiency (GHRD), also called Laron syndrome.GHRD, which is characterized by the body’s impaired ability to use its own growth hormone and results in stunted growth, has been linked in mice to a record 40% longevity extension and lower risks for various age-related diseases. However, the risk of cardiovascular disease in individuals with GHRD has remained unclear until now, leading to the speculation that in people, this mouse longevity mutation may actually increase cardiovascular diseas e. The study, published in Med on April 26, 2024, is the latest product of an international collaboration spanning nearly 20 years between Valter Longo, professor of gerontology at the USC Leonard Davis School of Gerontology, and endocrinologist Jaime Guevara-Aguirre of the ...

China has only about a dozen documented cases of people with type p blood, a variety that has a frequency lower than one in a million. US-based GenBank sequence database says nucleotide sequence present in sample has been never seen before A new combination of some of the molecules essential for human life has been detected in a sample of an extremely rare blood type at a hospital in eastern China, according to a Chinese news report.Modern Express Post reported on Saturday that the previously unknown nucleotide sequence in a person with the rare blood type p, a subtype of the P blood group, was found during routine blood tests last year at a hospital in Taizhou, Jiangsu province. There are only about a dozen documented cases of people in China with type p blood, a variety that has a frequency lower than one in a million, according to the report.It said staff at the Taixing People’s Hospital submitted the genetic sequence to the GenBank sequence database, an open access collection maint...

Each cell contains a set of instructions in its DNA that determines which genes are expressed and which are silenced. The correct programming of these so-called epigenetic programs, including DNA methylation, is essential for fertilization and development. A team of researchers from the University of Münster have for the first time identified the DNA methylation program behind sperm production (spermatogenesis) in the human. They found that during spermatogenesis the entire genome is reprogrammed. Moreover, when they analyzed cells from infertile men, they found that some regions in the genome are not correctly programmed, revealing a new potential cause of male infertility.The code has been cracked, at least the one leading to the production of sperm in humans. For this to be successful, the genes involved in the process need an "instruction manual." In other words, for the germline to generate sperm through the process of spermatogenesis, certain chemical patterns must be e...

HMS researcher Ben Gyori on the future of human-machine collaboration in scientific research In 2019 alone, more than 1.3 million new citations were added to the 30 million existing abstracts and articles catalogued by PubMed, the NIH’s database of biomedical and life sciences journals and literature. Each new entry, for the most part, contributes to the sum total of knowledge produced and validated by the world’s life sciences community. Every entry, however, also serves as a reminder of how much remains to be understood about the astonishingly complex science of biology—from the intricate networks of biomolecules and molecular machines that underlie all of life’s processes to how their myriad interactions shape the behaviors of everything from cells and tissues to organisms and ecosystems. Get more HMS news here Reverse engineering these processes gives scientists the best chance to understand human health and intervene in disease, but the human brain simply cannot keep up with this ...

Distantly related extremophiles share genetic signatures, a product of their adaptation to a specific “harsh” environment.Extremophiles, as their name suggests, are organisms that can live in extreme conditions, many of which are inhospitable for other terrestrial organisms. These fascinating organisms have been discovered deep within the Earth’s crust, in extremely acidic or basic conditions, under high pressures and in environments with blisteringly hot or freezing cold temperatures. Extremophiles have intrigued scientists for many years; how do they not only survive, but thrive in such harsh environments? Advances in next-generation sequencing are helping to answer this question, providing insights into their genetic composition.Professor Lila Kari from the Cheriton School of Computer Science has studied genetic signatures since the early 2000s. In a bid to understand whether an organism’s genome might contain information beyond taxonomic and evolutionary insights – i.e., its ancest...

TRND program supports preclinical development of therapeutic candidates intended to treat rare or neglected disorders, with the goal of enabling an Investigational New Drug (IND) application. About TRND More than 6,500 rare and neglected diseases have been identified, yet only about 250 treatments are available for these conditions. The limited numbers of patients can make gathering information and designing drug studies difficult. As a result, scientists often know little about the symptoms and biology of these conditions. Also, some private companies may find it difficult to justify the cost of developing drugs for such small rare disease markets. The Therapeutics for Rare and Neglected Diseases (TRND) program is designed to overcome these challenges. Its mission is to encourage and speed the development of new treatments for diseases with high unmet medical needs. TRND stimulates therapeutic development research collaborations among NIH and academic scientists, nonprofit organizatio...

A new study of nearly 400 human brains links genetic variants to genes and cell types, which could help enable precision-medicine for neuropsychiatric disease.A new analysis has revealed detailed information about genetic variation in brain cells that could open new avenues for the targeted treatment of diseases such as schizophrenia and Alzheimer’s disease. A new analysis has revealed detailed information about genetic variation in brain cells that could open new avenues for the targeted treatment of diseases such as schizophrenia and Alzheimer’s disease. The findings, reported May 23 in Science, were the result of a multi-institutional collaboration known as PsychENCODE, founded in 2015 by the National Institutes of Health, which seeks new understandings of genomic influences on neuropsychiatric disease. The study was published alongside related studies in Science, Science Advances, and Science Translational Medicine. The study included data from 388 people, including healthy individ...