26 words
Gene Variants Behind Periventricular Nodular Heterotopia Epilepsy
Bioengineer.org Subject of Research: Genetic variants that cause periventricular nodular heterotopia, a malformation of cortical development linked to epilepsy
Install
Latest in Rare Diseases & Genetics
883 words
Invisible changes in our cells may shape health and disease
Media Contact: Leila R. Gray - 206-475-9809, [email protected] The genetic material inside a person's cells is not identical throughout the body. Because cells pick up changes throughout life, every one of us has a patchwork of cells with a slightly different genetic sequence,…
597 words
Researchers Establish Best Methods To Measure Genetic Variation Within the Body
Let Siteman's care coordinators guide you through your next best step. Their oncology expertise means you are in good hands. WashU Medicine physicians and scientists at Siteman are leaders in their field who are experts in your specific type of…
140 words
Genome study reveals shared genetic roots of fibrotic diseases
The team identified 654 genome-wide significant associations between genetic variants and fibrotic traits. Of these, 139 represent previously unreported associations for their respective traits, expanding the catalog of known genetic risk factors for fibrotic conditions. The findings identify novel genetic associations and…
279 words
Where DNA Copying Fails Can Decide How Cancer Cells Respond to PARP Inhibitors
“The imaging enabled us to move beyond measuring damage across an entire cell,” Gupta said. “We could detect subtle replication problems, distinguish the sites involved, and identify the protective response that the cells relied on.” That response depended on PARP1 activity…
356 words
Study Reveals Link Between Maternal Inflammation and Autism-like Traits in Male Mice
At SSBCrack News, our dedicated editorial team brings you the latest and most reliable updates on Defence, Geopolitics, Military Affairs, Science, and Technology. Driven by a passion for national security and strategic awareness, the SSBCrack News Desk delivers fact-checked, timely,…
560 words
The UK Rare Diseases Framework: Ensuring healthy equity for those with rare conditions
Nation-specific action plans were later developed, detailing the steps each administration would take to meet the shared priorities of the Framework. The England Rare Diseases Action Plan 2026 – the fifth action plan, updated 14th April 2026 – demonstrates how the Department of Health and…
652 words
NPF Selects 82 Journalists Worldwide for 2026 Rare Disease Reporting Fellowship - National Press Foundation
The National Press Foundation has selected 82 journalists from around the world to participate in the 2026 Rare Disease Reporting Fellowship, Nov. 16-20. The journalism training program, sponsored by the Paris-based Fondation Ipsen, will explore many issues affecting people living with one of…
443 words
Rare diseases are not a niche, but Europe’s opportunity to connect innovation, evidence, and access
Here, EVERSANA’s Alberta Spreafico discusses how health data, connected care, and AI can help address these challenges, and why the European Health Data Space, proposed Biotech Act, and evolving EU health technology assessment framework present an important opportunity to rethink…
585 words
Epilepsy-Linked RAPGEF5 Variant Shifts Protein Out of the Nucleus in Belgian Shepherds
A 3-base-pair insertion in the RAPGEF5 gene, tied to idiopathic epilepsy risk in Belgian shepherds, pushes the protein predominantly into the cytoplasm of canine kidney cells instead of its usual nuclear and cytoplasmic distribution.
Rare Diseases & Genetics
Orphan conditions, registries, gene testing, and family support networks.
- 4 Tracked terms
- Last 30 days Feed window
What this topic collects on
An article joins this feed when it matches these terms. Each one is also a search of its own.