rare diseases

Brain scans. Illustration: depositphotos.com

Stem cell “mini-brains” reveal therapeutic direction for rare childhood disease

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Researchers created brain organoids from cells from patients with a rare disease linked to the DHDDS gene, and identified impairment in lipid metabolism, glycosylation, and mitochondrial function.
First-of-its-kind experimental gene therapy administered at Schneider Children's Center to a baby with WOREE syndrome, a rare disease caused by a defect in the WWOX gene. Credit: Hebrew University / Schneider Children's Center.

For the first time: Experimental WWOX gene therapy injected into the brain of a baby with severe genetic epilepsy

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Conceptual illustration of an AAV9 vector that delivers the WWOX gene to nerve cells in the brain as part of experimental gene therapy for WOREE syndrome.
Five-day-old zebrafish embryos under a microscope: the normal embryo (top) and the transgenic embryo (bottom) carrying the gene with the disease-causing mutation. It can be seen that in the transgenic embryo the main lymphatic vessel is abnormally enlarged

From the clinic to the aquarium: New zebrafish-based drugs for a rare lymphatic disease

A unique collaboration between the Weizmann Institute of Science and Sheba Medical Center led to the discovery of two potential drugs for a life-threatening disease of the lymphatic system.
Magnetic resonance imaging (MRI) findings of the brain in three children with a missing copy of Chaser. Scans taken at 8 months or 4 years of age (top row) show structural changes in the brain: shrunken frontal regions, a relatively small brainstem (indicated by asterisks), and abnormal development of the nerve sheath (myelin) in deep areas of the brain (indicated by arrows). These changes were barely visible in scans taken at XNUMX month of age (bottom row)

A global genetic pursuit

The baby who was saved thanks to genetic engineering.

The baby who changed the face of medicine – personalized CRISPR therapy in six months

How personalized genetic engineering saved a rare baby from carbamoyl-phosphate synthetase 1 deficiency
The Future of Medicine - An Optimistic Version. Credit: Dr. Roy Tsezana

Artificial intelligence suggests cures for existing diseases – and saves lives

An artificial intelligence-based platform by Professor Feigenbaum of the University of Pennsylvania crosses thousands of existing drugs with thousands of diseases, enabling the discovery of breakthrough treatments for rare and untreatable diseases.
Color medical imaging reviews of anatomical structures with bilateral symmetry.

Gene therapy in an improved recipe

An innovative treatment for Gaucher's disease shows promising results in mice and gives hope to patients after decades of research
In healthy skin tissue samples (left) ScAF cells show thin and elongated "tails" (in green), while in patients with limited scleroderma (center) - and even more so in patients with diffuse scleroderma (right) - there are fewer and fewer ScAF cells, and those that remain gradually lose their Their elongated tails show different expression levels of some proteins (marked in blue and red)

In a new skin: transforming every cell on the way to understanding a rare autoimmune disease

Weizmann Institute of Science scientists in collaboration with Hadassah and Rambam doctors present a new road map for the study of diseases in which there is still much that is hidden on the open
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