A5017068824- Genomics and Rare Diseases
- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Cellular transport and secretion
- Carbohydrate Chemistry and Synthesis
- Genetics and Neurodevelopmental Disorders
- Folate and B Vitamins Research
- Fetal and Pediatric Neurological Disorders
- Trypanosoma species research and implications
- Parvovirus B19 Infection Studies
- Connective tissue disorders research
- RNA modifications and cancer
- Congenital Anomalies and Fetal Surgery
- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
- melanin and skin pigmentation
- Cystic Fibrosis Research Advances
- RNA regulation and disease
- Biochemical and Molecular Research
- Medicinal plant effects and applications
- Muscle Physiology and Disorders
- Calcium signaling and nucleotide metabolism
- Genetic factors in colorectal cancer
Sir Ganga Ram Hospital
2016-2025
Institute of Post Graduate Medical Education and Research
2024
Indraprastha Apollo Hospitals
2024
Sir Ganga Ram Hospital
2004-2024
Rajasthan University of Health Sciences
2024
Rajasthan Dental College and Hospital
2024
Washington Center
2022
Lady Hardinge Medical College
2021
Creative Commons
2021
Kalawati Saran Children's Hospital
2021
PurposeMicrocephaly is a sign of many genetic conditions but has been rarely systematically evaluated. We therefore comprehensively studied the clinical and landscape an unselected cohort patients with microcephaly.MethodsWe performed assessment, high-resolution chromosomal microarray analysis, exome sequencing, functional studies in 62 (58% primary microcephaly [PM], 27% secondary [SM], 15% unknown onset).ResultsWe found severity developmental delay/intellectual disability correlating PM,...
Given the genomic uniqueness, a local data set is most desired for Indians, who are underrepresented in existing public databases. We hypothesize patients with rare monogenic disorders and their family members can provide reliable source of common variants population. Exome sequencing (ES) from families Mendelian was aggregated five centers India. The dataset refined by excluding related individuals removing disease-causing (refined cohort). efficiency these sets assessed new 50 exomes...
The International Rare Diseases Research Consortium (IRDiRC) Diagnostic Scientific Committee (DSC) is charged with discussion and contribution to progress on diagnostic aspects of the IRDiRC core mission. Specifically, goals include timely diagnosis, use globally coordinated pipelines, assessing impact rare diseases affected individuals. As part this mission, DSC endeavored create a list research priorities achieve these goals. We present those along current, global disease needs...
Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement may result in lethal viable phenotypes. In large numbers cases the defect remains yet to be determined. The aim this study is describe mutational frequency phenotypic spectrum CEP120 gene.
Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads the glucocerebrosidase enzyme deficiency and an increased accumulation of undegraded glycolipid glucocerebroside inside cells' lysosomes. To date, nearly 460 mutations have been described in GBA1 gene. With aim determine spectrum molecular pathology India, present study investigated one hundred unrelated patients (age range: 1 day 31 years) having splenomegaly,...
Rare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, especially the low- medium-income ones. Hence, undiagnosed RD (URD) account for significant portion burden.In October 2020, Developing Nations Working Group Undiagnosed Diseases Network International (DNWG-UDNI) launched survey among its members, belonging 20 countries across...
One hundred six patients treated consecutively with total knee arthroplasty were evaluated to determine whether preoperative comorbidity (as measured by patient class, score, short form, anesthesia severity assessment, and number of medical comorbidities) correlated perioperative postoperative outcomes, including length stay, (and specific) hospital charges, validated outcome scores. The stay for was longer in who had lower scores greater musculoskeletal morbidity. Greater costs associated...
Glycinergic neurotransmission is a major inhibitory influence in the CNS and its disruption triggers paediatric adult startle disorder, hyperekplexia. The postsynaptic α(1)-subunit (GLRA1) of glycine receptor (GlyR) cognate presynaptic transporter (SLC6A5/GlyT2) are well-established genes effect Nevertheless, 52% cases (117 from 232) remain gene negative unexplained. Ligand-gated heteropentameric GlyRs form chloride ion channels that contain α(1) β-subunits (GLRB) 2α(1):3β configuration they...
Structural birth defects occur in approximately 3% of live births; most such lack defined genetic or environmental causes. Despite advances surgical approaches, pharmacologic prevention remains largely out reach.
Gaucher disease (GD) is amongst the most frequently occurring lysosomal storage disorder in all ethnicities. The clinical manifestations and natural history of GD highly heterogeneous with extreme geographic ethnic variations. literature on has paucity information optimal management guidelines for Indian patients.Gaucher Disease Task Force was formed under auspices Society Academy Medical Genetics. Invited experts from various specialties formulated patients GD. A writing committee draft...
Background Patients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there currently up 9,000 different that have been recognized, new discovered every month. Although very few people affected each uncommon disease individually, millions of thought be globally when these conditions considered. Therefore, RDs represent an important public health concern. crucial for clinical care, early...
Undiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features lack clear diagnostic label. Although the Diseases Network International (UDNI) definition of URDs is not universally accepted, it widely recognized. We surveyed UDNI members participants from other countries to explore challenges posed by identify possible solutions. Participation survey was completely voluntary. The...