National Institute For Research in Reproductive Health (NIRRH), is a Research institute of the Indian Council of Medical Research (ICMR). It was previously known as the Institute of Research in Reproduction. It was established in 1970, by the joining two ICMR units, the Reproductive Physiology Unit and the Contraceptive Testing Unit.It is affiliated to the University of Mumbai for M.Sc. and Ph.D. programmes in Biochemistry, Applied Biology and Life Sciences..
Genetic diagnosis in a plethora of conditions is useful in clinical management of individuals and their families. The clinicians need to understand the underlying genetic etiology in undiagnosed cases to determine the appropriate clinical management. Lack of understanding and training in the different aspects of medical genetics is one of the major deterrents for efficient genetic evaluations in several cases in clinical practice. To address this issue, the Genetic Research Center initiated a one-month detailed training course for clinicians on various aspects of genetics to strengthen their clinical skills and capabilities for efficient genetic diagnosis. In the last five years, through annual workshops conducted by the center, 128 medical practitioners were trained. The information collected through written communication from the participants has been summarized. This report presents perceptions of participants about the need of the training course, feedback from the participants about this course and outcomes of the training course. This analysis supports the need for adequate training for medical professionals and further highlighted the benefits of such training programs in active patient management and for initiating research activities focused on understanding the underlying genetic etiology in several cases.
The current study investigated the proangiogenic effects of fraction VII of perivitelline fluid (hscPVF-VEGF) obtained from the late-stage embryos of Indian horseshoe crab (Tachypleus gigas; Müller) using human umbilical cord tissue-derived MSCs (hUCMSCs). Angiogenic potential of hscPVF-VEGF was investigated by analyzing transcripts of signature angiogenic markers, key transcription factors and matrix metalloproteases. Molecular docking studies were performed to predict the binding site of hscPVF-VEGF with the VEGF receptor (VEGFR). hscPVF-VEGF significantly upregulated VEGF, vWF, and downregulated sFlt-1. Significant increase in transcriptional levels of HOXA7, HOXB3, HOXB5, CD31, MMP2, and MMP9 further elucidated the molecular mechanism underlying the angiogenic ability of hscPVF-VEGF. Wound healing assay revealed the migratory potential of hscPVF-VEGF. Molecular docking studies predicted that hscPVF-VEGF may modulate hVEGFR activity by binding in a pocket within the extracellular domains (D5, D6, and D7) distal to the VEGF binding site (D2 and D3). This study infers the potential and molecular mechanism of hscPVF-VEGF inducing angiogenic differentiation in hUCMSCs, suggesting clinical application of a recombinant form of hsPVF-VEGF in disorders with dysfunctional angiogenesis.
To systematically investigate the genetic architecture of severe male infertility in Indian men, with a specific focus on chromosomal abnormalities and the contribution of de novo variants. We recruited 247 infertile males between 2021 and 2024 presenting with severe quantitative and qualitative sperm defects. All patients underwent karyotyping and Y chromosome microdeletion STS-PCR. A single molecule molecular inversion probe-based targeted sequencing assay covering 39 male infertility genes was performed in 120 patients, while whole exome sequencing (WES) was conducted in 48 patients using a duo/trio-based approach to enable segregation and de novo variant detection. Gonosomal aneuploidies were observed in 3/247 patients (1.2
Prenatal screening (PNS) can be a very effective strategy for identifying the individuals at-risk of genetic disorders. In contrast to prenatal genetic tests, which are very expensive, require special set-ups and expertise, PNS can be of great help in reducing the burden of genetic disorders, especially in the Indian context. During the last 10 years, several advanced PNS tests utilizing new platforms, with comparatively more sensitivity and specificity, have emerged. PNS tests for chromosomal aneuploidies, microdeletion syndromes, hemoglobinopathies, neural tube defects etc. are available. However, primary health care providers need to be made more aware about the availability of different tests, the time point at which these need to be used, appropriateness of these tests to various presentations and interpretation of the result. They need to be periodically informed about the availability, limitations, sensitivity and specificity of different platforms for PNS. Further, there is a need to develop uniform, updated and practical guidelines on PNS and disseminate these to health care providers so as to benefit the mass population. This article compiles information on different types of PNS and prenatal diagnostic tests, commonly required for different genetic conditions. These recommendations may help clinicians and primary healthcare providers in PNS.
Precocious puberty, characterized by the premature sexual developmental onset before the age of 8 in girls and 9 in boys, has been linked with individuals developing adverse psychosocial and metabolic conditions in later life. In recent years and especially after the COVID-19 pandemic, there has been an increase in the number of early puberty cases globally and this has become a significant concern for healthcare providers. Isolated indoor confinement and home quarantine, increased electronic gadget usage, disruption of normal sleep pattern, changes in dietary intake, minimal physical activity and exposure to endocrine-disrupting chemicals are contributing risk factors in the development of precocious puberty. The gonadotropin releasing hormone-stimulation test, although being a gold standard for identifying precocious puberty, is known for its anxiety-inducing nature due to multiple pricks and blood drawings. Moreover, the unavailability of set cut-offs for basal and stimulated gonadotropin levels underscores the importance of identifying novel biomarkers which play a role in the development of this condition. This short commentary emphasizes prevalent risk factors that may contribute in the disruption of normal pubertal timing and highlights the importance of a multidisciplinary approach involving pediatric endocrinologists, geneticists, psychologists, schools and social support systems to understand the complex interplay of risk factors and develop strategies for mitigating this condition. It also highlights the importance of developing techniques that will help in the accurate distinction between the types of precocious puberty, their diagnosis and management, which may help healthcare professionals implement proper treatment strategy.
