Skip to main content

Researchers Discover New Genetic Disease

Hyderabad’s NIMS-CDFD researchers discover new genetic disease


NIMS and CDFD discover new genetic disease, ‘lethal serpinopathy’, expanding knowledge of genetic disorders

Hyderabad’s Nizam’s Institute of Medical Sciences (NIMS) and the Centre for DNA Fingerprinting & Diagnostics (CDFD) have identified a previously unknown genetic disease, expanding the understanding of the thousands of genetic disorders known to medical science.

Globally, around 6,000 to 7,000 genetic diseases have been documented and the advancements in next-generation sequencing technology are enabling scientists to uncover new genetic conditions. In this study, the teams from NIMS and CDFD collaborated to investigate a couple’s tragic case, where their infants suffered from severe fluid accumulation in body cavities and organs, leading to premature death.

The discovery came after Head of the Department of Medical Genetics at NIMS Dr. Shagun Aggarwal along with Additional Professor Dr. Prajnya Ranganath and their team conducted comprehensive tests on the second foetus which was medically terminated. By utilising advanced DNA sequencing techniques, they identified a mutation in the SERPINA11 gene. This critical finding led to the recognition of a new disease.

Further analysis by the CDFD team, led by Dr. Rashna Bhandari and Dr. Ashwin Dalal, revealed that the gene’s malfunction affects multiple tissues, causing a deadly condition they have named ‘lethal serpinopathy’.

The results of this study, which were published in the September 2024 issue of Clinical Genetics, highlight the emergence of this new genetic disease in a family with recurrent pregnancy loss.

Telangana’s Minister for Health C. Damodar Raja Narasimha lauded the researchers for this exceptional achievement. “This research places NIMS Hospital and the state of Telangana on the global map for medical advancements,” he stated.

genetic disease, DNA, inherited disorders, gene mutations, single-gene disorders, chromosomal disorders, complex disorders, cystic fibrosis, sickle cell anemia, Huntington's disease, genetic testing, genetic counseling, gene therapy, personalized medicine, hereditary conditions, genetic screening, prenatal diagnosis, genomics, genetic research, ethical considerations,

#GeneticDisease, #DNA, #InheritedDisorders, #GeneMutations, #SingleGeneDisorders, #ChromosomalDisorders, #ComplexDisorders, #CysticFibrosis, #SickleCellAnemia, #HuntingtonsDisease, #GeneticTesting, #GeneticCounseling, #GeneTherapy, #PersonalizedMedicine, #HereditaryConditions, #GeneticScreening, #PrenatalDiagnosis, #Genomics, #GeneticResearch, #EthicalConsiderations

International Conference on Genetics and Genomics of Diseases 




For Enquiries: genetics@healthcarek.com 

Get Connected Here 
--------------------------------- 
--------------------------------- 
facebook.com/profile.php?id=61555903296992 
tumblr.com/blog/dorita0211 

Comments

Post a Comment

Popular posts from this blog

Genetics role in ovarian cancer

The Medical Minute: Genetics play big role in ovarian cancer In 2024, about 19,680 women in the United States will receive a new diagnosis of ovarian cancer and 12,740 women will die from the disease, said Dr. Shaina Bruce , a gynecologic oncologist at Penn State Cancer Institute . The median age of all patients who develop ovarian cancer is 63. Historically, women at increased risk for ovarian cancer are recommended to have their fallopian tubes and ovaries removed when they have completed having children. Taking that step to protect themselves comes at a heavy price ― surgical menopause. But Bruce said medical science is catching up with ovarian cancer. Studies could lead to new methods for preventative care and the surgery needed to lower risk may be easier than it once was. Below, during Gynecologic Cancer Awareness Month, Bruce discusses the disease and why acting to reduce your risk is worth it. What’s the connection between heredity and ovarian cancer? About 25% of all cases of ...
Post a Comment
Read more

Migration in Population Genetics

  Migration in Population Genetics Migration in population genetics refers to the movement of individuals-and therefore their genes -between different populations of the same species. This gene flow alters allele frequencies, increasing genetic diversity within populations while reducing genetic differences between them. Migration can counteract the effects of genetic drift and inbreeding , introduce new alleles , and influence evolutionary processes such as adaptation and natural selection. The rate, direction, and scale of migration play a crucial role in shaping population structure, evolutionary potential, and long-term species survival, especially in fragmented habitats or changing environments. Migration, Population Genetics, Gene Flow, Allele Frequency, Genetic Diversity, Evolution, Genetic Variation, Population Structure, Adaptation, Biodiversity #PopulationGenetics #Migration #GeneFlow #GeneticDiversity #EvolutionaryBiology #AlleleFrequency #NaturalSelection #GeneticD...
Post a Comment
Read more

Chromosomal Abnormalities

  Chromosomal Abnormalities Chromosome abnormalities refer to structural or numerical changes in chromosomes that can disrupt normal genetic function, leading to developmental disorders, congenital abnormalities, and various genetic diseases. These abnormalities may arise from errors in cell division, such as nondisjunction or chromosomal breakage, resulting in conditions like Down syndrome , Turner syndrome, Klinefelter syndrome , and various deletion or duplication syndromes. Understanding chromosome abnormalities is essential for genetic counseling, prenatal diagnosis, disease risk assessment, and research in cytogenetics and molecular genetics. Chromosome abnormalities, chromosomal disorders, chromosomal mutations, aneuploidy, structural chromosome abnormalities, nondisjunction, deletion syndrome, duplication syndrome , translocation, inversion, cytogenetics, karyotyping, prenatal diagnosis , genetic testing, genomic instability, Down syndrome, Turner syndrome, Klinefelter syn...
Post a Comment
Read more