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Rare diseases: More common than you think

February 25, 2021 sarah Jonas Genetics, Health & Human Sciences, rare disease, Rare Disease Day 2021, Science

In Canada, it is estimated that 1 in 40 children are born with a rare (genetically inherited) disease. One half of those children will not

Research Results

A Canadian success story: world-first to treat Fabry disease with gene therapy

February 25, 2021 sarah Jonas Gene Therapy, Gene Therapy Drugs, rare disease

Results of a world-first Canadian pilot study on patients treated with gene therapy for Fabry disease show that the treatment is working and safe.

Feature

Learn the Symptoms of Pulmonary Fibrosis this Rare Disease Day

February 22, 2021 sarah Jonas Idiopathic Pulmonary Fibrosis, Lung Disease, Pulmonary Fibrosis, Pulmonary Fibrosis Foundation, rare disease, Rare Disease Day

To mark Rare Disease Day on February 28, the Pulmonary Fibrosis Foundation (PFF) aims to increase public understanding of pulmonary fibrosis (PF) to drive home the importance of early diagnosis to help improve the quality of life for patients.

Research Results

Pitt Scientists Identify Genetic Risks of Rare Inflammatory Disease

December 11, 2020 sarah Jonas Genetics, GWAS, rare disease

A group of international collaborators led by researchers from the University of Pittsburgh identified new genetic associations that can predict individual susceptibility to Takayasu arteritis.

Announcement

Pulmonary Fibrosis Foundation Launches Campaign To Raise PF Awareness And Early Diagnosis

November 12, 2020 sarah Jonas Early Diagnosis, Idiopathic Pulmonary Fibrosis, interstitial lung disease, Lung Disease, Lungs, Public Awareness Campaign, Pulmonary Fibrosis, rare disease

The Pulmonary Fibrosis Foundation today announced the “Pinpoint PF” education and awareness campaign aimed at individuals with symptoms and at a higher risk for pulmonary fibrosis (PF).

Research Results

Vaccines and rare diseases: using one to help the other

October 21, 2020 sarah Jonas Canada, Immunology, rare disease, University of Montreal, Vaccination

An immunology researcher in Canada has found a simple solution to prevent infections in children with lactic acidosis: get them vaccinated.

Announcement

St. Jude recognized as clinical care center for rare von Hippel-Lindau syndrome

September 30, 2020 sarah Jonas Pediatrics, rare disease, von Hippel-Lindau disease

St. Jude Children’s Research Hospital has been designated as a von Hippel-Lindau Clinical Care Center by the VHL Alliance. St. Jude is the first and only VHL Alliance-recognized Clinical Care Center dedicated solely to children.

Feature

Seaver Autism Center For Research and Treatment at Mount Sinai Launches First Drug Trial for ADNP Syndrome

July 7, 2020 sarah Jonas Autism, Autism and Developmental Disabilities, Autism Spectrum Disorder, Ketamine, Neurodevelopmental Disorder, rare disease, rare disease research

Researchers at the Seaver Autism Center for Research and Treatment at Mount Sinai have started recruiting participants for a new clinical trial to evaluate the safety, tolerability, and efficacy of a low dose of ketamine in children diagnosed with ADNP syndrome (also known as Helsmoortel-VanDerAa syndrome), a rare neurodevelopmental disorder caused by mutations in the activity dependent neuroprotective protein (ADNP) gene.

Feature

New research on Marfan syndrome focuses on eyes

June 16, 2020 sarah Jonas 2020, Eyes, Gene, lens, Marfan Syndrome, rare disease, Vision

New NEI-supported research provides insight into the eye conditions associated with Marfan syndrome, where weakened zonule fibers cause vision problems.

Research Results

New test for rare disease identifies children who may benefit from simple supplement

June 3, 2020 sarah Jonas cdg, rare disease

Scientists at Sanford Burnham Prebys Medical Discovery Institute and the Centro de Biología Molecular Severo Ochoa in Spain have created a test that determines which children with CAD deficiency—a rare metabolic disease—are likely to benefit from receiving uridine, a nutritional supplement that has dramatically improved the lives of other children with the condition. The study was published in Genetics in Medicine.

Announcement

U of U Health Launches Rapid DNA Testing of Critically-Ill Newborns for Faster Diagnosis, Better Treatment

February 18, 2020 sarah Jonas Genetic Disease, rare disease

University of Utah Health today announced the launch of a project with a goal of quickly and accurately detecting genetic disorders among newborns in its neonatal intensive care unit (NICU). Clinicians believe that bringing precision medicine to the NICU will transform neonatal care, leading to better diagnosis and treatment of critically ill infants with genetic-related diseases while lowering medical costs and easing the emotional and financial burden on parents and families.