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New Insights into Nager Syndrome Through Zebrafish Models

Nager syndrome, or NS, is a rare genetic disease that affects the development of the face and limbs, usually causing anomalies in the bone structures of the jaws, cheeks, and hands.

17 Oct 2024

New Task Force to Address Challenges in LGMD Research

A new task force entrusted with advancing therapeutic development for limb-girdle muscular dystrophies (LGMDs) has been formed by the Critical Path Institute (C-Path) under its Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP®).

1 Oct 2024

A Novel Genetic Inference Method for Detecting Rare Disease Variants

Undiagnosed cases of Long QT syndrome have been found, thanks to an inventive examination of shared genomic sequences, which is a sign of distant “relatedness” and can cause irregular heart rhythms, fainting, and sudden cardiac death.

30 Sep 2024

Study Confirms Comparable Efficacy of Lamotrigine and Mexiletine in Muscle Channelopathy

The study, published in Lancet Neurology, detailed the "head-to-head" trial implemented by the researchers to test two drugs, mexiletine and lamotrigine, on people with the condition.

30 Sep 2024

New AI Tool Revolutionizes Prediction of Rare Genetic Variant Effects

Whether we are predisposed to particular diseases depends to a large extent on the countless variants in our genome.

26 Sep 2024

Genetic Variants Linked to Rare Bicuspid Aortic Valve Disease Identified

Genetic variants linked to a rare form of bicuspid aortic valve disease that affects young adults and can lead to dangerous and potentially life-threatening aortic complications have been identified by researchers at UTHealth Houston.

3 Sep 2024

Researchers Unveil Revolutionary New Template of the Human Brain

The human brain is in charge of important processes such as perception, memory, language, reasoning, awareness, and emotions.

17 Jul 2024

Impact of Rare Disease Mutation Could Extend to More Prevalent Conditions

REX1 is a gene that is meant to direct the maintenance of the entire body’s DNA, but new research shows that when people are born with mutated TREX1, the DNA suffers catastrophic damage over time, resulting in a deadly rare disease known as retinal vasculopathy with cerebral leukoencephalopathy (RVCL).

5 Jun 2024

Epigenomic Analysis Reveals Potential Treatment Avenues for ALS

For most patients, it's unknown exactly what causes amyotrophic lateral sclerosis (ALS), a disease characterized by degeneration of motor neurons that impairs muscle control and eventually leads to death.

3 May 2024

Messenger RNA Therapy Could be Used to Correct Rare Liver Genetic Disease

By exploiting the technology used in Covid-19 vaccines, a team led by UCL, King's College London and Moderna scientists has created an effective therapy for a rare disease, in a study in mice, demonstrating the technology's potential therapeutic use in people.

16 Jan 2024

Gene Therapy Shows Promise for Muscular Dystrophy Patients

Researchers at Cincinnati Children’s Hospital reveal how damage to the cell’s energy factory causes muscle wasting. Closing a pore in the mitochondrial membrane in gene-edited mice prevents disease progression.

28 Aug 2023

UCL Scientists Visualize the Molecular 'Nano-Machinery' That Causes Cilia to Beat

The first image of the structures that power human cilia – the tiny, hairlike projections that line our airways – has been produced by a team involving UCL researchers and could lead to much-needed treatments for people with rare cilial diseases.

14 Jun 2023

Study Represents a Paradigm Shift in Renal Physiology/Mammalian Salt Handling

A new study led by Marshall University researchers focuses on a novel mechanism of the body's regulation of salt balance.

3 Apr 2023

Previously unknown genetic causes of three rare conditions discovered

Using a new computational approach they developed to analyze large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues have discovered previously unknown genetic causes of three rare conditions: primary lymphedema (characterized by tissue swelling), thoracic aortic aneurysm disease, and congenital deafness.

20 Mar 2023

Researchers discover previously unknown genetic causes of three rare conditions

17 Mar 2023

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