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Molecular Diagnosis of Tuberculosis
Tuberculosis (TB) is a global health problem as it causes a significantly large number of new cases and mortality every year across the world. Its...
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Diagnosis of Genetic Disorders by DNA Analysis
DNA diagnostic tools have revolutionized modern medicine. Rapid and cost-effective technologies have changed the way genetic diseases are being...
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Species Diagnosis and DNA Taxonomy
The use of DNA has helped to improve and speed up species identification and delimitation. However, it also provides new challenges to taxonomists....
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Research and Clinical Approaches to Undiagnosed Rare Genetic Disorders
Rare genetic diseases are complex and heterogeneous. The diagnostic challenges of undiagnosed rare genetic disorders are due to their diversity and...
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Rare genetic diseases in India: Steps toward a nationwide mission program
Rare genetic diseases are rare by themselves with prevalence of 1 in 25,000, but collectively they are a significant cause of morbidity and...
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Disease Models for Rare Genetic Disorders
Rare diseases pose complex challenges to individuals, families, and the healthcare system. Collaborative research efforts are essential to improving...
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Challenges and Future Opportunities in Rare Genetic Disorders: A Comprehensive Review
Rare genetic disorders (RGDs) are a large and diverse group of diseases with low frequency but great clinical and genetic variation. These illnesses...
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Genetic Testing in Male Infertility
The problem of infertility is rising rapidly. Male fertility is greatly influenced by genetic factors, with chromosomal abnormalities and...
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Inferring early genetic progression in cancers with unobtainable premalignant disease
Analysis of premalignant tissue has identified the typical order of somatic events leading to invasive tumors in several cancer types. For other...
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Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype
Hereditary spherocytosis (HS) is one of the most common causes of hereditary hemolytic anemia. The current diagnostic guidelines for HS are mainly...
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Rare Genetic Disorders: Unraveling the Pathophysiology, Gene Mutations, and Therapeutic Advances in Fabry Disease and Marfan Syndrome
Fabry disease and Marfan syndrome are two distinct rare genetic disorders, each with intricate pathophysiologies, characterized by multi-organ...
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Multiplex cerebrospinal fluid proteomics identifies biomarkers for diagnosis and prediction of Alzheimer’s disease
Recent expansion of proteomic coverage opens unparalleled avenues to unveil new biomarkers of Alzheimer’s disease (AD). Among 6,361 cerebrospinal...
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Genetic Testing for Endometrial Receptivity
Endometrial receptivity is a gateway to a successful pregnancy. Emerging evidence has proven the crucial role of endometrial receptivity in...
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Pathology-Based Diagnosis of Tuberculosis
Mycobacterium tuberculosis (Mtb) is a life-threatening infectious pathogen that causes tuberculosis (TB). The MTBC complex comprises eight species,...
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Genetic Diversity Assessment in Cereal Crops
Human intervention in nature has severely affected climatic changes resulting in global warming which drastically influences the agriculture sector...
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Challenges and opportunities for discovering the biology of rare genetic diseases of the brain
Diseases of the human nervous system are an important cause of morbidity and mortality worldwide. These disorders arise out of multiple aetiologies...
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Genetic Testing in Cervical Cancer
Cervical cancer, a prevalent disease in developing countries, is responsible for a huge number of deaths due to gynecological cancers. Human...
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Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context
Spinal muscular atrophy (SMA) is a neuromuscular, rare genetic disorder caused due to loss-of-function mutations in the survival motor neuron-1 ( SMN1 )...
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DNA Barcode-Based Species Diagnosis with MolD
Rapid biodiversity loss sets new requirements for taxonomic research, prompting updating some long-established practices to maximize timely...
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Genetic Testing in Premature Ovarian Failure
Premature ovarian failure is defined as the lack of ovarian hormones or ovarian follicle reserve. This results in aberrant ovarian activity, which...
