Rare Disease News and Research

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Study shows the clinical utility of amniotic fluid cells RNA-sequencing in prenatal rare disease diagnosis

A clinical research team from the Department of Paediatrics and Adolescent Medicine and the Department of Obstetrics and Gynaecology, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong (HKUMed) leads the discovery of applying amniotic fluid cells obtained during 16-24 weeks of pregnancy as a novel sample type for RNA-sequencing in prenatal diagnosis to help more families with tailored clinical management.

4 Jan 2023

NCI-led clinical trial results in the first approval of a treatment for advanced alveolar soft part sarcoma

A clinical trial led by the National Cancer Institute (NCI), part of the National Institutes of Health, has resulted in the first approval of a treatment for advanced alveolar soft part sarcoma (ASPS).

28 Dec 2022

Study shows positive effect of concentrating surgery for children with neuroblastoma

Neuroblastoma is a tumor of the sympathetic nervous system that occurs mainly in young children. Every year, 25 children in the Netherlands receive this diagnosis. Surgery to remove the tumor tissue forms an important part of the treatment plan.

19 Dec 2022

Two Cents' Worth: Shared decision making in renal cell carcinoma (RCC)

In this interview, we speak to Steve Pointon, patient advocate in remission from RCC, and Dr Harm van Melick, Consultant Urologist, about their experiences with shared decision-making and the impact it can have on people living with renal cell carcinoma (RCC).

From Ipsen 15 Dec 2022

Updated guidelines seek to improve transparency and utility in clinical trial reporting

In a global study of outcome reporting in clinical trials, a research team at The Hospital for Sick Children (SickKids) has issued updated guidelines on what should be included in all trial protocols and published clinical trial reports, with the goal to improve their transparency and utility.

14 Dec 2022

CRISPR/Cas9-engineered avatar mouse model of rare disease paves the way for targeted therapy

An international research team led by Dr Ana Guadaño at the Alberto Sols Biomedical Research Institute (IIBM, a combined CSIC-UAM center) and involving the Complutense University of Madrid (UCM), used CRISPR gene editing techniques to incorporate into the mice a mutation of the MCT8 protein responsible for transporting thyroid hormones to the interior of the cell.

12 Dec 2022

GOSH delivers world-first base-edited cell therapy for a patient with relapsed T cell leukemia

A patient with relapsed T cell leukemia has been given base-edited T-cells in a world-first use of a base-edited cell therapy, in a 'bench-to-bedside' collaboration between UCL and Great Ormond Street Hospital for Children (GOSH).

12 Dec 2022

Research extends the powerful tool of immunotherapy to autoimmune diseases

The cancer therapy known as CAR-T has revolutionized treatment of some blood cancers since it was introduced in 2017. The therapy uses genetically altered immune cells to home in on cancer cells and destroy them.

6 Dec 2022

New tool may help better predict resistance to immunoglobulin therapy among children with Kawasaki disease

predict resistance to immunoglobulin therapy among children with Kawasaki disease in the United States.

2 Dec 2022

Cannabidiol and the shifting perspective of epilepsy drug discovery

Researchers discuss the research hat contributed to cannabidiol as a potential antiseizure medication in the 21st century.

29 Nov 2022

UAB and Menkes International Association sign a donation agreement to boost research in Menkes disease

These funds, coming from the Menkes International Association, will allow a research project to search for new biomarkers to establish administration and monitoring protocols for a new drug that could improve the lives of children suffering from this rare disease.

29 Nov 2022

ELRIG: Bringing Life Sciences and Drug Discovery Communities Together

We spoke to ELRIG about the evolving landscape of the drug discovery sector, and what actions they are taking to continue to support individuals in this space.

11 Nov 2022

Researchers unravel genetic changes in a region that controls the activity of the genome

Scientists have discovered the cause of a rare condition within a part of the genome that has been largely unexplored in medical genetics. A team at the University of Exeter has found genetic changes in a region that controls the activity of the genome, turning on or off genes, and in doing so they have found a key that could unlock other causes of rare conditions.

8 Nov 2022

Personalized whole genome sequencing approach could double the diagnostic rates of rare diseases

Tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases, finds a new study led by UCL researchers.

7 Nov 2022

Increasing Awareness Surrounding Ataxia

In this interview, we speak to Dr. Lauren Moore from the National Ataxia Foundation about the condition and the importance of raising awareness for ataxia.

31 Oct 2022

Researchers use CRISPR-edited T cells to treat seriously ill children with resistant leukaemia

Researchers at Great Ormond Street Hospital for Children (GOSH) and UCL Great Ormond Street Institute of Child Health (UCL GOS ICH) have used CRISPR/Cas9 technology to engineer donor T cells to try to treat seriously ill children with resistant leukaemia, who had otherwise exhausted all available therapies.

27 Oct 2022

Pioneering gene editing technique can repair faulty T cells in patients with CTLA-4 insufficiency

A fault in cells that form a key part of the immune system can be repaired with a pioneering gene editing technique, finds new research demonstrated in human cells and mice, led by UCL scientists.

27 Oct 2022

New studies point to a broadly applicable treatment for neurodegenerative diseases

Two new studies from Washington University School of Medicine in St. Louis support development of a broadly applicable treatment for neurodegenerative diseases that targets a molecule that serves as the central executioner in the death of axons, the wiring of the nervous system.

26 Oct 2022

Researchers identify a previously unknown mitochondrial disease in identical twins

In a set of identical twins, investigators led by researchers at Massachusetts General Hospital (MGH) and Children's Hospital Philadelphia (CHOP) have identified a mitochondrial disease not previously reported.

14 Oct 2022

Self-teaching deep learning algorithm can find similar cases in large pathology image repositories

Rare diseases are often difficult to diagnose and predicting the best course of treatment can be challenging for clinicians.

10 Oct 2022