Rare Disease News and Research

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Researchers identify link between ALS and accumulation of DNA-RNA hybrids in the genome

Researchers from the University of Seville and the University of Pavia have identified a link between Amyotrophic Lateral Sclerosis (ALS) and the accumulation of DNA-RNA hybrids in the genome.

13 Jan 2021

New taxonomic classification of non-skeletal rare congenital disorders with impact on bone physiology

Thanks to major progress in the understanding and management of rare congenital diseases and syndromes, many patients with these rare disorders are now living longer lives.

13 Jan 2021

Study: TTR protein plays a protective role in Alzheimer's disease

A protein that wreaks havoc in the nerves and heart when it clumps together can prevent the formation of toxic protein clumps associated with Alzheimer's disease, a new study led by a UT Southwestern researcher shows.

8 Jan 2021

RedHill Biopharma: RHB-204 receives FDA Fast Track designation for treatment of NTM disease

RedHill Biopharma Ltd., a specialty biopharmaceutical company, today announced that RHB-204 has been granted Fast Track designation by the U.S. Food and Drug Administration for its development as a potential first-line, stand-alone, oral treatment of pulmonary nontuberculous mycobacteria (NTM) disease caused by Mycobacterium avium Complex (MAC) - a rare disease for which there is no FDA-approved first-line therapy.

6 Jan 2021

Trinity team uncovers mutations linked with early onset dementia

Scientists at Trinity College Dublin today announced a significant advance in our understanding of an early onset form of dementia that may also progress our understanding of conditions such as Alzheimer's disease.

22 Dec 2020

Researchers establish BRIDGES program to synergize diagnostic efforts, patient outcome management

For over 20 years, the Genetics Service at the KK Women's and Children's Hospital (KKH) has been providing clinical care to patients with genetic disorders.

22 Dec 2020

Neanderthal gene variant increases risk of severe COVID-19

Researchers in Germany have conducted a study showing that between 2 and 8% of people in Eurasia carry a genetic variant inherited from Neanderthals that significantly increases the risk of becoming critically ill with coronavirus disease 2019 (COVID-19).

15 Dec 2020

Novel antibody-drug conjugate shows 29% response rate in rare blood cancer

Early study data shows a 29% overall response rate, the favorable safety profile in blastic plasmacytoid dendritic cell neoplasm (BPDCN)

8 Dec 2020

Clinical investigators present abstracts on hematological malignancies at ASH Annual Meeting and Exposition

Clinical investigators from Hackensack Meridian Health John Theurer Cancer Center (JTCC), a member of the Georgetown Lombardi Comprehensive Cancer Center consortium, are to present updates on treatment advances in multiple myeloma (MM), mantle cell lymphoma (MCL), and other types of B-cell lymphoma (BCL) as well as leukemia at the 62nd American Society of Hematology (ASH) Annual Meeting and Exposition, to be held virtually from December 5-8, 2020.

7 Dec 2020

Genethon to start international clinical trial for treatment of Duchenne muscular dystrophy

Genethon, dedicated to designing and developing gene therapy products for rare diseases, received this Monday 30th of November the authorization from the ANSM, the French National Agency for Medicines and Health Products Safety, to start in France a multicentre international clinical trial for the treatment of Duchenne muscular dystrophy with product GNT 004.

2 Dec 2020

University of Sheffield and Pfizer launch new consortium to accelerate development of ATMPs

The University of Sheffield and Pfizer have today (23 November 2020) launched a new consortium which aims to standardize and accelerate the development of Advanced Therapy Medicinal Products (ATMPs), allowing potentially transformative treatments to reach patients sooner.

23 Nov 2020

Immunotherapies effective against lung cancer, melanoma may also work against rare skin tumor

Cutaneous angiosarcoma is a rare, highly aggressive skin tumor found primarily on the scalps of older White people, but based on new research from the University of North Carolina School of Medicine and the Lineberger Comprehensive Cancer Center, immunotherapies effective against lung cancer and melanoma may also work against this cancer.

18 Nov 2020

Study: Cannabidiol molecule contains more potent antioxidants

Nowadays, cannabidiol is a star component, not only in the world of cosmetics, but also in pharmaceutics and nutrition due to its antioxidant properties and its therapeutical potential.

17 Nov 2020

Study shows favorable impact of medication on cardiac structure and function

For the first time, medication has impacted heart muscle thickness and function for patients with the most common inherited heart condition, rather than simply addressing their symptoms.

17 Nov 2020

First-ever phase 3 advanced anal cancer trial opens for patient enrollment

The first randomized phase 3 clinical trial ever to be conducted in patients with advanced cancer of the anal canal is now open and enrolling patients.

16 Nov 2020

Immunotherapy combination shrinks rare angiosarcoma tumors in 25% of patients

Researchers from SWOG Cancer Research Network, a cancer clinical trials group funded by the National Cancer Institute's Division of Cancer Diagnosis and Treatment, part of the National Institutes of Health, have shown that the immunotherapy combination of ipilimumab and nivolumab shrinks rare angiosarcoma tumors in 25 percent of all patients, with some having an even stronger response to the drug combination.

15 Nov 2020

Rare Disease News and Research

Researchers identify link between ALS and accumulation of DNA-RNA hybrids in the genome

New taxonomic classification of non-skeletal rare congenital disorders with impact on bone physiology

Study: TTR protein plays a protective role in Alzheimer's disease

RedHill Biopharma: RHB-204 receives FDA Fast Track designation for treatment of NTM disease

Trinity team uncovers mutations linked with early onset dementia

Researchers establish BRIDGES program to synergize diagnostic efforts, patient outcome management

Neanderthal gene variant increases risk of severe COVID-19

Novel antibody-drug conjugate shows 29% response rate in rare blood cancer

Clinical investigators present abstracts on hematological malignancies at ASH Annual Meeting and Exposition

Genethon to start international clinical trial for treatment of Duchenne muscular dystrophy

University of Sheffield and Pfizer launch new consortium to accelerate development of ATMPs

Immunotherapies effective against lung cancer, melanoma may also work against rare skin tumor

Study: Cannabidiol molecule contains more potent antioxidants

Study shows favorable impact of medication on cardiac structure and function

First-ever phase 3 advanced anal cancer trial opens for patient enrollment

Immunotherapy combination shrinks rare angiosarcoma tumors in 25% of patients

Researchers receive federal grant to develop tool that protects privacy in brain imaging analyses

Trend analysis in Japan reveals Creutzfeldt-Jakob disease may not be so rare anymore

Two studies show the benefit of collaborative research on childhood blood disorders

FDA awards six clinical trial research grants to enhance development of therapies for rare diseases

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