Rare Disease News and Research

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Discovering the cerebellum's new role in thirst modulation

Discovering the cerebellum's new role in thirst modulation

UCLA research highlights delayed Huntington's disease diagnosis for Black patients

UCLA research highlights delayed Huntington's disease diagnosis for Black patients

High ambient temperatures during pregnancy can have detrimental impact on offspring health

High ambient temperatures during pregnancy can have detrimental impact on offspring health

Researchers identify key players in abnormal bone differentiation

Researchers identify key players in abnormal bone differentiation

Early diagnosis key in combating the deadly effects of AL amyloidosis

Early diagnosis key in combating the deadly effects of AL amyloidosis

RENEW system utilizes machine learning for rare disease diagnosis

RENEW system utilizes machine learning for rare disease diagnosis

Pacific Northwest Research Institute uncovers hidden DNA mechanisms of rare genetic diseases

Pacific Northwest Research Institute uncovers hidden DNA mechanisms of rare genetic diseases

Anakinra shows promise in reducing symptoms in patients with Sanfilippo syndrome

Anakinra shows promise in reducing symptoms in patients with Sanfilippo syndrome

Newly designed genetic therapy could alleviate debilitating giant moles in rare skin condition

Newly designed genetic therapy could alleviate debilitating giant moles in rare skin condition

Enterprise Therapeutics appoints Dr Renu Gupta as Chief Medical Officer and Dr Janet Hammond as Non-Executive Director

Enterprise Therapeutics appoints Dr Renu Gupta as Chief Medical Officer and Dr Janet Hammond as Non-Executive Director

Mutated TREX1 gene linked to catastrophic DNA damage and deadly rare disease

Mutated TREX1 gene linked to catastrophic DNA damage and deadly rare disease

Non-coding gene mutation linked to monogenic neurodevelopmental disorders

Non-coding gene mutation linked to monogenic neurodevelopmental disorders

Addressing local dynamics in rubella vaccination policy

Addressing local dynamics in rubella vaccination policy

Tattoos could be a risk factor for lymphoma, study suggests

Tattoos could be a risk factor for lymphoma, study suggests

Molecular pathology of Schaaf-Yang syndrome: Insights into MAGEL2 gene mutations and truncated proteins

Molecular pathology of Schaaf-Yang syndrome: Insights into MAGEL2 gene mutations and truncated proteins

Researchers map early genetic development of the brain

Researchers map early genetic development of the brain

Study reveals how genetic changes in SCN2A gene impact autism and epilepsy

Study reveals how genetic changes in SCN2A gene impact autism and epilepsy

Machine learning system offers new hope for diagnosis of rare genetic disorders

Machine learning system offers new hope for diagnosis of rare genetic disorders

CNIC researchers unravel complexities of Andersen-Tawil syndrome

CNIC researchers unravel complexities of Andersen-Tawil syndrome

Baylor study reveals role of newly inherited DNA variants in recessive diseases

Baylor study reveals role of newly inherited DNA variants in recessive diseases

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