Rare Disease News and Research

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Kawasaki Disease presents a growing threat to UK children’s heart health

Today, on World Heart Day, Societi, the UK Kawasaki Disease Foundation is campaigning to protect tiny hearts — by highlighting the urgent need for awareness of Kawasaki Disease – the leading cause of acquired heart disease in U.K. children.

29 Sep 2021

Primary sclerosing cholangitis: Therapy with synthetic bile acid acts directly on the immune system

Primary Sclerosing Cholangitis (PSC) is a rare, chronic inflammatory disease of the bile ducts and is difficult to treat. Studies conducted by the Division of Gastroenterology and Hepatology at MedUni Wien under the guidance of Michael Trauner (Department of Internal Medicine III) were able to show positive effects from the administration of synthetically produced bile acids and bile acid receptor agonists.

28 Sep 2021

New RDCA-DAP program launches to accelerate rare disease treatment innovation

The Rare Disease Cures Accelerator-Data and Analytics Platform initiative officially launched its next phase on Tuesday establishing itself as the leading platform to accelerate rare disease treatment innovation.

15 Sep 2021

Albert Einstein College of Medicine receives $5 million NIH grant for IDD research

Albert Einstein College of Medicine has received a five-year, $5 million grant from the National Institutes of Health to support the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, which has been at the forefront of research on normal and abnormal brain development for more than 50 years.

15 Sep 2021

First rat model recapitulates all disabling alterations experienced by patients with Morquio A disease

A research team from the Universitat Autònoma de Barcelona has generated the first rat model recapitulating all disabling alterations experienced by patients with Mucopolysaccharidosis type IVA, also known as Morquio A disease.

12 Sep 2021

Activated mast cell disorders potentially linked to SARS-CoV-2 immunity

An intriguing new study reports a year-long study in patients with cMCADs from all over France.

7 Sep 2021

Researchers develop a machine learning-based screening tool for genetic syndromes in children

With an average accuracy of 88%, a deep learning technology offers rapid genetic screening that could accelerate the diagnosis of genetic syndromes, recommending further investigation or referral to a specialist in seconds, according to a study published in The Lancet Digital Health.

2 Sep 2021

FDA approves an intravenous medication to treat patients with Pompe disease

Today, the U.S. Food and Drug Administration approved Nexviazyme (avalglucosidase alfa-ngpt) for intravenous infusion to treat patients 1 year of age and older with late-onset Pompe disease.

6 Aug 2021

Graduate student receives NIH grant to study specific molecule’s role in healthy neurodevelopment

Raymundo Hernandez was always drawn to psychology - that is, until he took his first neurobiology class as an undergraduate.

20 Jul 2021

Drug combination found to be safe and effective in malignant peritoneal mesothelioma patients

A phase II study led by researchers from The University of Texas MD Anderson Cancer Center found that treatment with atezolizumab and bevacizumab was well-tolerated and resulted in a 40% objective response rate in patients with advanced malignant peritoneal mesothelioma, a rare cancer in the lining of the abdomen.

14 Jul 2021

Dying patients with rare diseases struggle to get experimental therapies

At 15, Autumn Fuernisen is dying. She was diagnosed at age 11 with a rare degenerative brain disorder that has no known cure or way to slow it down: juvenile-onset Huntington's disease.

14 Jul 2021

Why we may never know whether the $56,000-a-year Alzheimer’s drug actually works

The Food and Drug Administration's approval in June of a drug purporting to slow the progression of Alzheimer's disease was widely celebrated, but it also touched off alarms.

12 Jul 2021

Study uncovers mutations in Polycomb group gene as underlying cause of novel neurological disorder

A multi-institutional study has discovered spontaneous mutations in RNF2 (RING2) gene as the underlying cause of a novel neurological disorder.

8 Jul 2021

Genetic variants in a neuro-associated gene cause neurodevelopmental disorder, finds study

Mayo Clinic researchers have discovered that genetic variants in a neuro-associated gene called SPTBN1 are responsible for causing a neurodevelopmental disorder. The study, published in Nature Genetics, is a first step in finding a potential therapeutic strategy for this disorder, and it increases the number of genes known to be associated with conditions that affect how the brain functions.

2 Jul 2021

UPMC expert finds successful treatment for rare diseases diagnosed by newborn screenings

1It was a nagging mystery: A rare-disease expert at UPMC Children's Hospital of Pittsburgh had found a successful treatment for two of the deadliest symptoms of one of the more common classes of rare diseases diagnosed by newborn screenings, but one symptom--painful episodes of muscle breakdown that land victims in intensive care--persisted.

29 Jun 2021

New book improves understanding of rare disease genetics using genomic approaches

In 2018, Dr. Claudia Gonzaga-Jáuregui, who years before had completed her doctorate studies in Dr. James R. Lupski's lab at Baylor College of Medicine, received an email from an editor at Elsevier's Academic Press with a proposal that immediately caught her attention.

25 Jun 2021

New initiative to reduce treatment delays for patients with rare diseases

The Treatabolome project is a research initiative to develop a freely available, interoperable online platform dedicated to disseminating rare disease and gene-specific treatment information to healthcare professionals regardless of their level of specialized expertise.

1 Jun 2021

New method helps identify rare genetic disease that affects brain development

Rare disease experts detail the first results of an unprecedented collaboration to diagnose people living with unsolved cases of rare diseases across Europe.

1 Jun 2021

Expert panel provides guidance for optimized design of early drug trials for Alzheimer's, related dementias

An expert panel convened by the Alzheimer's Drug Discovery Foundation (ADDF) and The Association for Frontotemporal Degeneration (AFTD) provides guidance on best practices for the design of early drug trials for Alzheimer's disease, frontotemporal degeneration (FTD), and other neurodegenerative dementias.

19 May 2021

Experts discuss the role of hormones in everyday life, highlight policy measures to address challenges

Today, EU policymakers, experts, patient representatives and other stakeholders gathered online to discuss the role of hormones in our everyday life, its interlinkage with prevalent non-communicable diseases and the policy measures required to address the many challenges in this rapidly growing area of human health.

11 May 2021