Articles listed by date

Research HighlightFeb 20, 2020

Gene therapy brings mobility to patients

Engineered virus helps improve motor and mental functions in youth with AADC deficiency

Research HighlightOct 16, 2019

MELAS: Dietary supplement approved for rare mitochondrial disease

The naturally occurring amino acid helps ward off stroke-like episodes

Research HighlightMar 29, 2019

New overgrowth gene identified

A new overgrowth syndrome has been identified after finding a mutation that affects bone development

Research HighlightMar 29, 2019

Well-studied gene implicated in rare syndrome

The gene CDC42 is implicated in a disease combination previously described in two other gene mutations

FeatureMar 29, 2019

The Japanese twist on gene variants

A five-year program is filling in the information gap about disease-causing genetic variations within the Japanese population

Research HighlightMar 29, 2019

SON mutation causes intellectual disability

A gene that encodes a DNA-binding protein causes an intellectual disability syndrome

Research HighlightMar 15, 2019

Differential diagnosis may help spot NINJAs

A newly described autoimmune disease shares features with multiple sclerosis but isn't detected by conventional tests

Research HighlightMar 15, 2019

Unmasking genetic diseases masquerading as cerebral palsy

Genomic analysis reveals rare inherited diseases in patients originally diagnosed with cerebral palsy

Research HighlightMar 15, 2019

Model provides new clues on genetic hearing loss

A laboratory testing model of Pendred syndrome, made from patient stem cells, gives new hope to those suffering from genetic hearing loss

Research HighlightMar 15, 2019

Rapid test pinpoints enzyme-related immune deficiency

A new technique can rapidly distinguish if patients have a specific immunodeficiency syndrome that is clinically similar to other primary immunodeficiencies

FeatureMar 15, 2019

Meeting to fast track progress on rare disease research

AMED meeting shares the latest knowledge of tools, trials and therapies for Japan’s rare and intractable diseases

Research HighlightMar 15, 2019

New causative mutations reported for familial epilepsy

Scientists uncover links between epilepsy and repeats in non-coding regions of DNA

Research HighlightMar 15, 2019

Taking a deeper look at activated PI3K-delta syndrome

Researchers in Japan identify a new causative gene for APDS and continue to assess effective treatment strategies

FeatureFeb 15, 2019

Orphanet Japan builds bridges to foster research and knowledge generation

A landmark international partnership is set to improve patient health in Japan and around the world

Research HighlightFeb 15, 2019

New gene variants associated with early-onset epilepsy

Study pinpoints the genetic basis for epilepsy down to the amino-acid level

Research HighlightFeb 15, 2019

A united effort to tackle Crohn's disease

An oral medication for Crohn’s disease is the subject of continuing clinical trials in Japan

Research HighlightFeb 15, 2019

Finding relief for a severe blistering disease

The drug rituximab shows promise to treat an intractable autoimmune condition

Research HighlightJan 18, 2019

Surprising link between immune gene and childhood epilepsy

Seizure disorder traced to a gene with no previously documented role in the brain

Research HighlightJan 18, 2019

Getting more specific about mitochondrial disorder

A new drug and reliable diagnostic marker will benefit patients with this rare condition

Research HighlightJan 18, 2019

Duplication discovery points to a need for copy number testing

Two young girls with Coffin–Siris syndrome harboured gene duplications — not point mutations — highlighting the need for more comprehensive gene testing

FeatureJan 18, 2019

One-stop shops for patient care

Two rare disease information centres in Japan are helping patients find financial relief and new hope for cures

Research HighlightJan 18, 2019

Defects in nuclear passageways disrupt kidney function

Japanese researchers were first to show that mutations affecting the nuclear pore complex can trigger a disease that eventually leads to end-stage kidney failure

Research HighlightJan 18, 2019

Key developmental pathway implicated in unusual brain tumours

Mutations trigger benign brain tumours responsible for seizures and cognitive deterioration

Research HighlightDec 14, 2018

New model sheds light on metabolic alterations

A mouse model harbouring a genetic mutation common to Costello syndrome and some cancers helps clarify metabolic changes

Research HighlightDec 14, 2018

Cause of progressive muscle weakness found

Mutant gene underpins muscle diseases of both the heart and limbs

Research HighlightDec 14, 2018

Modeling drug sensitivity using human stem cell cultures

A culture model based on human-derived stem cells shows promise for predicting drug toxicity in patients with neuropathy disorders

Research HighlightDec 14, 2018

Cutting-edge tools provide crucial insights

Gene editing in human-derived stem cell cultures underpins a model to trial therapies for neurological diseases

FeatureDec 14, 2018

Looking beyond genes towards cures

A Japanese research initiative is using collaboration and recent advances in genetics to bring hope to patients with rare diseases

Research HighlightDec 14, 2018

Uncovering the genetic causes of West syndrome

Scientists find links between a rare epilepsy disorder and pathogenic variants of an autophagy-related gene called WDR45

Research HighlightDec 14, 2018

Microtubule abnormality alters brain architecture

Faulty assembly of the rigid rods that give cells their shape causes a rare brain disease in children

Research HighlightNov 15, 2018

An expanded view of tubulin-linked brain disorders

Two severe cases demonstrate the breadth of possible brain malformations caused by mutations in one gene

Research HighlightNov 15, 2018

A 3D tool to help predict cancer development

A colon culture model demonstrates how chronic inflammation creates a favourable environment for carcinogenesis

Research HighlightNov 15, 2018

Gene discovery reveals cause of unexplained bone marrow disorders

One diagnosis in Japan could lead to new types of genetic testing

Research HighlightNov 15, 2018

The switch from acute to chronic

Investigations in mice and humans provide more details about how chronic multiple sclerosis develops

FeatureNov 15, 2018

Medical mystery program takes a global approach to disease sleuthing

Japan’s Initiative on Rare and Undiagnosed Diseases is collaborating with similar programs around the world to advance healthcare and science

Research HighlightNov 15, 2018

Leaving rare diseases no place to hide

International collaboration and genetic studies of Japanese black cattle were key to solving the case of a rare disease

FeatureNov 15, 2018

Japan’s rare disease database expedites more effective research

The Rare Disease Data Registry of Japan aims to facilitate collaborative research efforts and to systematise the documentation of patient data

Research HighlightOct 15, 2018

Putting the brakes on ALS

Experimental gene therapy prolongs lifespan and preserves motor function in mice by partially blocking the progression of a type of rare neurological disease

Research HighlightOct 15, 2018

Outcomes of stem cell transplants in gene mutation patients

Stem cell transplants can cure some people with STAT1 mutations, but outcomes need to be improved

Research HighlightOct 15, 2018

Identifying mutants one amino acid at a time

Mutating proteins by replacing their amino acids with alanine could help identify rare genetic diseases

Research HighlightOct 15, 2018

Search for genetic culprits

Ongoing research based on the Japanese population is providing insights into genes responsible for limb malformation disorder

Research HighlightOct 15, 2018

Drug trial brings hope for treating virus-linked spine disease

By destroying infected immune cells, an antibody drug brings relief to patients with a debilitating neurological disorder

Research HighlightOct 15, 2018

Rare pathogenic mutations shed light on DNA repair

Disease-causing mutations provide new understanding of a protein’s role in repairing DNA double-strand breaks