Rare Diseases

Current bibliography for experts

"Gen" search results...

LIPODISTROFI

Complications of lipodystrophy syndromes

2021-11-10

Lipodystrophy leads to severe metabolic problems. Metabolic abnormalities can be present at the time of diagnosis or may develop over time as the disease progresses

MPS

The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy

2021-11-01

The findings of this study indicate the need for novel treatment methods that target the skeletal system in affected patients.

GAUCHER

Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3

2021-11-01

This single center experience is the first comprehensive study from Turkey not only reporting clinical and genetic characteristics of patients with Gaucher disease (GD) but also providing information on the outcomes of enzyme replacement therapy (ERT) in two different sub-types of GD.

CTX

Prevalence of cerebrotendinous xanthomatosis in cases with idiopathic bilateral juvenile cataract in ophthalmology clinics in Turkey

2021-10-25

The aim of this study was to determine the prevalence of cerebrotendinous xanthomatosis (CTX) in patients with idiopathic bilateral juvenile cataract in Turkey.

MPS

Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study

2021-10-22

The aim of this study was to investigate the decline of activities of daily living with symptomatic progression in patients with mucopolysaccharidosis type II (MPS II) and investigate the associated factors.

ALFA-MANNOSIDOZ

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

2021-10-06

This article presents the clinical and genetic study of six patients from two Tunisian families with alpha-mannosidosis.

FABRY

Gene therapy for Fabry disease: Progress, challenges, and outlooks on gene-editing

2021-10-01

This review focuses on the current state of gene therapy as it is being developed for Fabry disease, including progresses and challenges as well as an overview of gene-editing and how it may be applied to correct Fabry disease-causing mutations in the future.

ALFA-MANNOSIDOZ

Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene

2021-09-16

This article presents a 7-year-old girl child, born of a consanguineous marriage, presented with developmental delay, seizures, and hearing impairment.

CLN2

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

2021-09-01

This study supports comprehensive genetic testing for patients whose first seizure occurs ≥ 24 months of age. It also supports early application of testing in this age group, as the identified diagnoses can have significant impact on patient management and outcome.

CSID

The glucose-regulated protein GRP94 interacts avidly in the endoplasmic reticulum with sucrase-isomaltase isoforms that are associated with congenital sucraseisomaltase deficiency

2021-09-01

In this study, an interaction between glucose-regulated protein GRP94 and sucrase-isomaltase (SI) was demonstrated. The interaction of GRP94 with SI and regulation of its folding, suggests that GRP94 may play a role in maintaining intestinal homeostasis.

FABRY

Current and experimental therapeutics for Fabry disease

2021-09-01

The focus of this review is describing the in vitro and the in vivo experimental models of Fabry disease, to highlight the relevance in improving the existing therapeutics and understand the mechanism of this rare disorder.

ASMD

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

2021-08-23

In this study in children with chronic ASMD, olipudase alfa was generally well-tolerated with significant, comprehensive improvements in disease pathology across a range of clinically relevant endpoints.

News and Events

ASHG 2025

The ASHG (American Society of Human Genetics) 2025 Annual Meeting will be held in Boston from October 14-18. The meeting...

I-PAS Academy

I-PAS Academy, of which Gene2Info is one of the sponsors, will be held in Muğla between October 24-26, 2025.

8th Neuromuscular Diseases Congress

The 8th Neuromuscular Diseases Congress, of which Gene2Info is one of the sponsors, will be organized by the Neuromuscul...

All News

Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...