Rare Disease News and Research

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Rare disease involving speech and motor coordination difficulties identified

Scientists from the National Institutes of Health recently identified a new neurological condition characterized by issues with motor coordination and speech. Their observations were published in the journal npj Genomic Medicine.

From National Human Genome Research Institute (NHGRI) 13 Feb 2023

Researchers establish and characterize a stable iPSC line for modeling human disease

Bill Skarnes and team established and characterized a stable iPSC line, KOLF2.1J, to act as a high-quality baseline platform for modeling human disease.

3 Feb 2023

Study identifies genetic mutation in the SPTSSA gene as cause of Hereditary Spastic Paraplegia

A genetic mutation in the SPTSSA gene is identified as the cause of Hereditary Spastic Paraplegia, a rare disease that causes progressive weakness, stiffness and spasticity in the lower extremities, according to a study, "SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia," published in Brain on on Jan. 30.

1 Feb 2023

3D “mini eyes” provide insight into genetically induced blindness

The development of “mini eyes” by researchers at the UCL Great Ormond Street Institute of Child Health (UCL GOS ICH) has made it possible to study and comprehend the onset of blindness in the rare genetic disease known as Usher syndrome more.

From University College London 22 Nov 2022

Pioneering gene editing approach could lead to new treatments for 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.

From University College London 27 Oct 2022

New insight into human genome evolution

Researchers discovered that in one out of every 4,000 births, some of the genetic code from the mitochondria—the “batteries” that power human cells—inserts itself into the DNA, giving a startling new insight into how humans evolve.

6 Oct 2022

Researchers propose a solution to delayed molecular diagnosis and therapy in childhood genetic diseases

Rady Children’s Institute for Genomic Medicine (RCIGM®) recently announced the publication in Nature Communications of research that describes and examines the efficiency of Genome-to-Treatment (GTRxTM), a computer-controlled, virtual disease management system that combines a quick Whole Genome Sequencing (rWGS®) diagnosis accomplished in 13.5 hours with a custom lab management information system and analysis pipeline.

28 Jul 2022

Researchers get funding to develop a vaccine against ALS disease

DZNE and Intravacc B.V., have received a grant from the European Union of € 2.5 million to further create a prototype ALS vaccine.

8 Jul 2022

Research identifies the main gene that causes developmental disability syndrome

A single gene that was previously discovered to be the main factor in a rare disease associated with epilepsy, autism, and developmental delay has been named as a key player in the development of healthy neurons.

1 Jul 2022

Lifebit; Making Biomedical Data Accessible

In this interview, we speak to Dr. Maria Chatzou Dunford, CEO of Lifebit, about their technology and how it helps scientists to make better use of their data.

From Lifebit 1 Apr 2022

Novel DNA test helps diagnose neurological and neuromuscular genetic diseases

The Garvan Institute of Medical Research came up with a new DNA test that helps determine a range of hard-to-diagnose neurological diseases faster.

7 Mar 2022

First molecular images of enzyme may help solve the mystery cause of hereditary neurodegenerative diseases

WEHI researchers have produced the first molecular images of an enzyme that controls proteins to signal and communicate with each other in human cells.

From Walter and Eliza Hall Institute of Medical Research (WEHI) 13 Jan 2022

Experts introduce new gene therapy approach for muscle weakness

Experts at Children’s National Hospital have created a new pre-clinical gene therapy for the rare condition limb-girdle muscular dystrophy (LGMD) 2B.

7 Jan 2022

Study finds novel genes linked to fibromuscular dysplasia using genetic meta-analysis

Recent research identified that three novel genetic variants that control gene expression in the arteries are linked to fibromuscular dysplasia (FMD)—an arterial disease that induces threatening impacts for the heart and vessels.

19 Oct 2021

Study reveals gene responsible for food-dependent form of Cushing's Syndrome

A team of scientists in Montreal and Paris has succeeded in identifying the gene responsible for the development of a food-dependent form of Cushing's Syndrome, a rare disease affecting both adrenal glands.

15 Oct 2021

Researchers identify the mechanism leading to deafness in Norrie disease

A team of Mass Eye and Ear Scientists led by Albert Edge, PhD, working with research fellow Yushi Hayashi, MD, PhD, has identified the mechanism that can lead to deafness in the rare syndrome, Norrie disease.

6 Oct 2021

New gene editing approach bypasses disease-causing mutations

A new approach to gene editing using the CRISPR/Cas9 system bypasses disease-causing mutations in a gene, enabling treatment of genetic diseases linked to a single gene, such as cystic fibrosis, certain types of sickle cell anemia, and other rare diseases.

From Penn State University 22 Apr 2021

Nutritional supplement may reduce the risk of strokes caused by a 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.

24 Mar 2021

Absence of TRIM37 protein boosts genetic instability in patients 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.

1 Mar 2021

Genetic testing technology is extremely unreliable in detecting very rare genetic variants

According to a new study, a technology that is extensively used by commercial genetic testing firms is “extremely unreliable” in identifying very rare variants.

From University of Exeter 16 Feb 2021