Genetics plays a role, to a greater or lesser extent, in all diseases. Variations in our DNA and differences in how that DNA functions (alone or in combinations), alongside the environment (which encompasses lifestyle), contribute to disease processes. This review explores the genetic basis of human disease, including single gene disorders, chromosomal imbalances, epigenetics, cancer and complex disorders, and considers how our understanding and technological advances can be applied to provision of appropriate diagnosis, management and therapy for patients.
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NASA Scientists Show How Gravitational Waves Can Reveal New Worlds
The LISA (Laser Interferometer Space Antenna) observatory, now in development, will detect gravitational waves, the tiny ripples in space-time caused by orbiting masses. Now two studies led by NASA astrophysicists show in new detail how LISA could reveal a new and unique population of exoplanets — worlds beyond our solar system — throughout our galaxy.
Supratentorial ependymoma: a comprehensive review of molecular classification, management strategies, and clinical outcomes (Part II of pediatric ependymomas across compartments) — Journal of Neuro-Oncology
To review the clinical, molecular, and imaging landscape of pediatric supratentorial ependymoma (ST-EP) and outline current management principles guiding surgical and adjuvant treatment decisions.
Synthesis of literature regarding biology, diagnosis, and management of ST-EP, focusing on recently emerging molecular subtypes.
ST-EP is an important and clinically significant intracranial malignancy comprising roughly 30–40% of all ependymoma cases. The 2021 WHO molecular classification stratified ST-EP into ZFTA-fusion, YAP1-fusion, and NEC subtypes, fundamentally altering our understanding of this pathology. ZFTA-fused tumors represent the majority of ST-EP, are seen in older patients and harbor a relatively worse prognosis while YAP1-fused tumors, though rarer, are enriched for younger children and carry a substantially more favorable prognosis. Management of very young children presents a unique therapeutic challenge, balancing disease control against the neurocognitive sequelae of cranial irradiation and aggressive surgery in the developing brain.
AI sceptics focus on the wrong threats
They overlook how vulnerable the status quo is and how much AI can help defenders, writes Anne Neuberger
Identification of RIMKLA-IgG Paraneoplastic Neurological Syndrome With Cerebellar Ataxia
The ribosomal modification protein RimK-like family member A (RIMKLA) was identified in this case series as an autoimmune marker associated with paraneoplastic neurological syndrome.
Leukemia Drug Shows Potential Against Metastatic HER2-Positive Breast Cancer
DURHAM, N.C. – In animal studies led by researchers at Duke Cancer Institute, a drug approved to treat leukemia successfully disrupted the ability of HER2-positive breast cancer tumors from colonizing the brain.
The finding, appearing online Aug. 30 in the journal Cell Reports, provides evidence for human trials and suggests a potential new approach to derail one of the main ways that breast cancer turns deadly.
“We have made huge strides in treating HER2-positive breast cancers, but when tumors escape the therapies, they often metastasize to the brain,” said senior author Ann Marie Pendergast, Ph.D., professor and vice chair of the Department of Pharmacology and Cancer Biology at Duke University School of Medicine.
Cells that maintain and repair the liver identified
Researchers uncovered the roles that different cells in the liver play in organ maintenance and regeneration after injury.
MIT researchers tackle the economic realities of fusion power
In the last decade, scientists have shown that fusion energy can work, as a physical process. Next question: Can it work economically?
A study co-authored by MIT professors Dennis Whyte and Andrew W. Lo proposes a framework for understanding what’s needed to make fusion energy commercially viable in the marketplace. The method considers the physical inputs needed to sustain controlled fusion energy production, as well as the cost of building power plants that can compete in energy markets.
“It’s all the things that come along with finding, allocating, and spending money at this scale,” says Whyte, a professor of nuclear science and engineering at MIT and a key driver of the field’s progress, who co-authored the paper. “This is critical to what we do. We should look at the economics. If we want this technology to actually be meaningful in the world economy, we have to start getting straight with ourselves about these topics.”
How lasers could help provide fuel for nuclear reactors
Companies are developing new enrichment technology that could unlock previously overlooked resources.
Magnetic nanoparticles cut adhesive curing from 24 hours to one in laboratory tests
Scientists at Nanyang Technological University, Singapore (NTU Singapore) and global automotive supplier Motherson are collaborating to develop a magnetic heating technology that could significantly reduce the time and energy needed to cure industrial coatings.
The collaboration combines NTU’s expertise in magnetic materials and polymer science with Motherson’s automotive engineering and manufacturing capabilities to adapt the technology for industrial production.
Motherson is a leading global design, engineering, manufacturing, assembly and logistics specialist, supporting customers from more than 475 facilities across 47 countries. Its operations span automotive and aerospace components, as well as other industries.