Related Concept Videos
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:43Incomplete Dominance
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
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[Necrotizing pneumonia in children - case report of a severe disease].
Orvosi hetilap·2026
Rare Genetic Diseases with Founder Effect in Roma Children.
Simona Drobňaková1,2, Mária Andrejková2, Jana Šaligová2
1Department of Paediatrics and Adolescent Medicine, Faculty of Medicine, Pavol Josef Šafárik University, 040 11 Kosice, Slovakia.
Life (Basel, Switzerland)
|May 27, 2026
Summary
This study highlights rare genetic disorders in the Roma community, revealing high morbidity and mortality. Proactive screening is crucial for managing these conditions, emphasizing founder effects and consanguinity.
Area of Science:
- Genetics
- Rare Diseases
- Population Studies
Background:
- Rare diseases (RDs) exhibit significant variability between and within different conditions.
- The Roma community displays a higher prevalence of specific rare genetic disorders due to founder effects.
Purpose of the Study:
- To analyze the most frequent rare genetic disorders within the Roma community.
- To characterize the clinical features and genetic basis of selected RDs in this population.
Main Methods:
- Retrospective study of 61 patients (infancy to 25 years) from January 2019 to January 2025.
- Diagnosis of hypomyelinating leukodystrophy 14, pontocerebellar hypoplasia type 1B, neuronal ceroid lipofuscinosis 7, and TMEM70 deficiency.
- Analysis of genetic mutations, clinical manifestations, and survival rates.
Main Results:
- Largest cohort of hypomyelinating leukodystrophy 14 patients (n=17) with UFM1 mutation, predominantly males, severe with early mortality.
- Six Roma patients with pontocerebellar hypoplasia type 1B shared an EXOSC3 mutation, with microcephaly and severe hypotonia.
- Thirteen patients with neuronal ceroid lipofuscinosis 7 (MFSD8 mutation) showed psychomotor regression, intellectual disability, and seizures.
- 25 patients with TMEM70 deficiency, predominantly females, experienced intellectual disability, cardiomyopathy, and metabolic crises.
Conclusions:
- Genetic rare diseases carry high morbidity and mortality, with limited targeted therapies.
- Increased prevalence in the Roma population is linked to founder effects and consanguinity.
- Prenatal, newborn, and carrier screening are vital for proactive rare disease management.