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Researcher uses alternative approach to find genetic drivers of rare eye disease

An analysis of thousands of genomes from people with and without the rare eye disease known as MacTel has turned up more than a dozen gene variants that are likely causing the condition to develop and worsen for a significant share of patients.

23 Mar 2021

Nutritional supplement may reduce risk of fatal strokes in patients with rare genetic disorder

Researchers from Children's Hospital of Philadelphia (CHOP) have discovered that a widely used nutritional supplement may significantly reduce the risk of fatal strokes caused by a rare genetic disorder.

23 Mar 2021

Study: Early benefit assessment of new drugs within the framework of AM-NOG procedure

"The AMNOG procedure has passed its first practical test. It is practicable and can also be implemented in detail", emphasized IQWiG's Director Jürgen Windeler in October 2011, when the Institute had published its first early benefit assessment within the framework of the AM-NOG procedure (AMNOG = Act on the Reform of the Market for Medicinal Products).

22 Mar 2021

UTHSC professor awarded $1.79 million grant to develop new amyloidosis treatment

The National Institute of Diabetes and Digestive and Kidney Diseases recently awarded Jonathan Wall, PhD, professor in the University of Tennessee Health Science Center's Graduate School of Medicine in Knoxville, a $1.79 million grant for his study titled "Developing a Theranostic Immunotherapy for Systemic Amyloidosis."

16 Mar 2021

VEXAS syndrome in men is more common than previously thought

A rare disease first identified in 2020 is much more common than first thought, say researchers at the University of Leeds investigating its origins.

11 Mar 2021

Rare Disease Day: Illumina shines a spotlight on people living with rare diseases

With a mission of empowering the rare disease community, Illumina has today partnered with medical researchers and families to highlight the importance of genomic sequencing and to shine the spotlight on the 300 million people worldwide living with a rare disease.

8 Mar 2021

Study demonstrates intricate relationship between Prpf19 and Exoc7 in inherited ataxias

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph Disease (MJD), describes the most common form of dominantly inherited ataxia in many populations worldwide, including Hong Kong and mainland China.

1 Mar 2021

Critical Path Institute and global partners establish Ataxia Consortium

Critical Path Institute (C-Path) today announced the launch of the Critical Path to Therapeutics for the Ataxias (CPTA) Consortium, a public-private partnership focused on optimizing clinical trials for inherited ataxias.

27 Feb 2021

A missing protein explains the appearance of tumor cells in people with Mulibrey syndrome

Researchers from the Andalusian Centre for Molecular Biology and Regenerative Medicine (CABIMER), in collaboration with the Swiss Institute for Experimental Cancer Research (ISREC) have studied the mechanisms behind the higher tendency of people with Mulibrey syndrome to develop tumors.

26 Feb 2021

World-leading research institutions join forces to find better treatments for pediatric diseases

Ahead of Rare Disease Day (28 February), four leading children's research institutions on three continents are joining forces to decipher pediatric illnesses, including rare diseases, and find better treatments.

25 Feb 2021

Rare Disease Day 2021: Raising awareness of childhood dementia

In the lead-up to Rare Diseases Day – on Sunday February 28 - Associate Professor Kim Hemsley’s studies into childhood dementia are helping to unlock answers that can assist treatment of these largely unheralded conditions.

25 Feb 2021

Scientists discover two unique subtypes of a prominent mutation in patients with AML

Using advanced RNA sequencing, scientists have identified two unique subtypes of a prominent mutation present in many patients with Acute Myeloid Leukemia (AML) – called NPM1 – that could help predict survival and improve treatment response for patients whose leukemic cells bear the mutation.

16 Feb 2021

Genetic testing technology wrongly detects the presence of very rare genetic variants

A technology that is widely used by commercial genetic testing companies is "extremely unreliable" in detecting very rare variants, meaning results suggesting individuals carry rare disease-causing genetic variants are usually wrong, according to new research published in the BMJ.

15 Feb 2021

Variants of nine genes induce a higher risk of developing Addison's disease

Variants of nine genes increase the risk of developing Addison's disease, a rare disease in which the immune system attacks the adrenal glands.

11 Feb 2021

Spark Therapeutics launches gene therapy clinical trial for late-onset Pompe disease

Pompe disease is a hereditary genetic disorder caused by a deficiency of acid alpha-glucosidase leading to build-up of glycogen in the lyosomes, which then causes cell damage in various tissues, in particular the heart, the muscles, the liver and the nervous system.

3 Feb 2021

Protein alteration contributes to degeneration of neuronal populations in Huntington's disease

Protein alteration in the family of lamins causes several diseases, known as laminopathies, such as progeria or precocious aging.

1 Feb 2021

Researchers release first Japanese reference genome

The Japanese now have their own reference genome thanks to researchers at Tohoku University who completed and released the first Japanese reference genome (JG1).

29 Jan 2021

NEI scientists develop and test a promising gene therapy strategy for rare eye disease

Scientists at the National Eye Institute have developed a promising gene therapy strategy for a rare disease that causes severe vision loss in childhood.

28 Jan 2021

Systemic lupus erythematosus disproportionately affects ethnic female population

Just over 200,000 Americans suffer from systemic lupus erythematosus, or SLE, a condition in which the body's immune system mistakenly attacks its own healthy tissues, especially joints and skin, a new study shows.

21 Jan 2021

New drug reduces tumor volume and pain in patients with neurofibromatosis type 1

Based on preclinical studies of an investigational drug to treat peripheral nerve tumors, researchers at Children's Hospital of Philadelphia (CHOP) as part of the Neurofibromatosis Clinical Trials Consortium have shown that the drug, cabozantinib, reduces tumor volume and pain in patients with the genetic disorder neurofibromatosis type 1 (NF1).

15 Jan 2021