Latest Articles for Genetic Disorders

An overview of X-ALD, a rare genetic disorder affecting the nervous system.

New approaches in patient symptom reporting may improve diagnosis accuracy.

An overview of spinal muscular atrophy and its impact on muscle function.

Learn about Acute Lymphoblastic Leukemia, its causes, and treatment options.

Research reveals miRNA potential in diagnosing hypophosphatasia.

Study reveals connections between health issues and primary immunodeficiencies.

Researchers focus on improving vision retention in retinitis pigmentosa through metabolic health.

Study finds GXR may help reduce aggression and impulsivity in Prader-Willi Syndrome.

A look into the genetic causes and mechanisms behind Peters anomaly in eye development.

Research highlights the role of CRB2 mutations in FSGS and podocyte health.

Study reveals brain structure alterations in GM1 gangliosidosis using advanced imaging techniques.

Study examines corticosteroid treatment effects on anxiety and behavior in DMD mice.

New research on zebrafish models sheds light on Sanfilippo syndrome.

Research on gene therapy offers hope for those affected by Christianson syndrome.

Study reveals common alpha-thalassemia mutations in microcytic anemia patients.

An overview of Lowe syndrome, its effects, and ongoing research.

An overview of HGPS and its impact on children.

Pompe disease is a rare genetic disorder affecting muscle and nerve function.

Research advances chromosome therapy for genetic disorders like 8p syndrome.

New research shows promise in gene therapy for severe genetic disorders.

A study uses AI to improve heart risk evaluations in patients with FH.

Research on DESSH syndrome sheds light on brain development challenges.

Research shows SMN protein affects liver and pancreas health in SMA.

How cystic fibrosis complicates the body's fight against fungal infections.

New research offers promising treatments for lysosomal acid lipase deficiency.

Learn about dystrophin and its crucial role in muscle health and repair.

Learn about Gaucher Disease and its impact on blood health.

Exploring dynamic MRI techniques to assess muscle function in neuromuscular diseases.

Timothy Syndrome affects the heart, brain, and overall development, presenting unique challenges.

Uncover the surprising roles of pseudogenes and non-coding RNAs in our DNA.

Learn about Fabry disease and its impact on health.

Learn about GM2 gangliosidoses and their impact on the nervous system.

Undernutrition endangers children with sickle cell disease in Uganda.

New automated methods improve newborn health checks using dried blood samples.

Learn about beta thalassemia, its types, symptoms, and treatments.

Aekatperone shows potential in treating KATP channel mutations affecting insulin regulation.