Disease of 1,000 faces shows how science is tackling immunity’s dark side

Doctor after doctor misdiagnosed or shrugged off Ruth Wilson’s rashes, swelling, fevers and severe pain for six years. She ...
IEEE

Curriculum-Guided Contrastive Self-Supervised Learning Approach for Rare Disease Recognition in Dermatoscopic and Clinical Skin Imaging

Abstract: Accurate diagnosis of rare skin diseases from dermatoscopic and clinical images remains a significant challenge due to limited annotated data and class imbalance. These limitations often ...
The New England Journal of Medicine

Common Diseases in Clinical Cohorts — Not Always What They Seem

Misdiagnosis or underdiagnosis of rare diseases in patients with diagnoses of common diseases can lead to delayed or inappropriate treatments, thereby complicating the management of both rare and ...
Medical Xpress

'Disease in a dish' study of progressive MS finds critical role for unusual type of brain cell

Scientists have identified an unusual type of brain cell that may play a vital role in progressive multiple sclerosis (MS), likely contributing to the persistent inflammation characteristic of the ...
Phys.org

Rare disease possibly identified in 12th century child's skeletal remains

In the journal Childhood in the Past, Ph.D. candidate Duru Yağmur Başaran published the results of an analysis of an over 900-year-old skeleton of a child. The study revealed that a 2.5 to ...
STAT

Parents of children with rare diseases ask: How long until our CRISPR miracle?

Lozano is a rare disease mom, neuroscience Ph.D. candidate at UC Davis, and board member for the PURA Syndrome Foundation. In May, a historic moment in science and medicine was captured in a single ...
KERA News

Texas is screening for more rare diseases in babies, but families still face barriers to treatment

Jeanette Henriquez, on the left, stands with her two children, Jasmine Henriquez and Dominic Henriquez. Dominic Henriquez was diagnosed with Hunter Syndrome in 2011 before the condition was added to ...
MedPage Today

Certain Autoimmune Skin Diseases Linked to Better Cancer Prognosis

People with autoimmune skin diseases had significantly better cancer survival outcomes than others. Survival benefits were most notable in people with alopecia areata and Sjögren syndrome. Findings ...
Medical Xpress

Mechanisms of rare skin disease point to new treatments

People with Sweet's syndrome often wake up with a fever, body aches, and blisters on their neck, limbs and face. Also known as acute febrile neutrophilic dermatosis, it is an inflammatory skin disease ...
IEEE

Meta-Transfer Derm-Diagnosis: Exploring Few-Shot Learning and Transfer Learning for Skin Disease Classification in Long-Tail Distribution

Abstract: Building accurate models for rare skin diseases remains challenging due to the lack of sufficient labeled data and the inherently long-tailed distribution of available samples. These issues ...
Baylor College of Medicine

NIH awards more than $15 million to fund two rare diseases consortia

Baylor College of Medicine has received new funding from the National Institutes of Health for two consortia in the Rare Diseases Clinical Research Network: $7.4 million over five years to renew the ...