Gharip Biotech

07/04/2026

12/03/2026

https://youtu.be/7blkYsbShzc
This video illustrates the hereditary patterns of X-linked recessive traits when a mother possesses a mutated gene. In the first scenario, a carrier mother and a healthy father have a 50% chance of producing sons who express the condition and a 50% chance of having daughters who serve as carriers. The Punnett square visually demonstrates how s*x chromosomes segregate to determine these specific biological outcomes for offspring. A second scenario describes a homozygous mother, whose genetic makeup ensures that all male children will inherit the disorder. Meanwhile, every daughter born to a homozygous mother will become a genetic carrier regardless of the father's health. These examples highlight how maternal genetics uniquely influence the health risks of children based on their biological s*x.

This Video illustrates the hereditary patterns of X-linked recessive traits when a mother possesses a mutated gene. In the first scenario, a carrier mother a...

25/01/2026

24/01/2026

https://youtu.be/wSXY3pFOoBc
This module explores the transformative impact of medical genomics on the field of oncology, shifting the focus from generalized treatments to personalized medicine. Traditional methods often rely on clinical trial averages, but genomic analysis reveals that cancers like breast cancer and lymphoma are actually collections of distinct molecular subtypes requiring specific therapies. By utilizing transcriptome clustering and circulating tumor DNA monitoring, doctors can now predict treatment responses and track how a tumor evolves and mutates during recurrence. The text highlights successful cases where targeted therapies, such as vitamin derivatives for specific leukemias, have dramatically improved survival rates. However, this rapid advancement introduces significant ethical and practical challenges regarding the standard of care and the ability of clinicians to stay current with evolving research. Ultimately, the source emphasizes that understanding a tumor's unique genetic signature is essential for effective, modern cancer management.

This module explores the transformative impact of medical genomics on the field of oncology, shifting the focus from generalized treatments to personalized m...

23/01/2026

https://youtu.be/6bdpjTLwtMI
Title: Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome

Journal: BMC Genomics (2015), Volume 16, Article number: 703
DOI: 10.1186/s12864-015-1916-3
Access: Open Access

Authors:
Olga Zilina¹,²* (Corresponding author)
Marina Koltsina¹
Raivo Raid¹
Ants Kurg¹
Neeme Tõnisson²,³†
Andres Salumets⁴,⁵,⁶†

This review examines genomic mosaicism, a condition where cells within a single individual possess distinct genetic profiles due to post-zygotic mutations. While historical research prioritized its role in cancers and overgrowth syndromes, contemporary studies highlight its presence in healthy brain development and the aging process. The authors detail various mutation types, ranging from single nucleotide variants to large structural alterations, and explain how these serve as permanent "barcodes" for tracing cellular lineages. Advances in next-generation sequencing and single-cell analysis have revolutionized the detection of these variants, moving beyond traditional visualization methods like FISH. The text further explores the utility of natural and engineered mosaicism as tools for mapping the environmental exposures and developmental histories of neurons. Ultimately, the source frames mosaicism as both a potential driver of neurological disease and a powerful recorder of a cell's biological past.

Title: Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genomeJournal: BMC Genomics (2015), Volume 16, A...

22/01/2026

https://www.lshtm.ac.uk/study/courses/short-courses/intermediate-pharmacoepidemiology-pharmacovigilance?utm_source=linkedin&utm_medium=cpc&utm_campaign=short_course&utm_content=sph3&li_fat_id=cbda8444-4f7c-43b9-ba4a-bdae3b42d0e3

22/01/2026

https://youtu.be/43nJnezH8ZM
Title: Genomic mosaicism with increased amyloid precursor protein (APP) gene copy number in single neurons from sporadic Alzheimer's disease brains

Authors:
Diane M. Bushman¹,²†
Gwendolyn E. Kaeser¹,²†
Benjamin Siddoway¹
Jurgen W. Westra¹‡
Richard R. Rivera¹
Stevens K. Rehen¹†
Yun C. Yung¹
Jerold Chun¹* (*Corresponding author)

This research identifies a significant link between genomic mosaicism and sporadic Alzheimer's disease by examining individual neurons. While previous studies focused on bulk tissue, this study utilized single-cell qPCR and advanced PNA-FISH imaging to reveal that diseased brains contain neurons with an increased number of APP gene copies. These findings demonstrate that DNA content variation is a prevalent feature in the prefrontal cortex of affected individuals, where some neurons harbor up to twelve copies of the gene. This localized genetic amplification likely contributes to the formation of amyloid plaques, suggesting that somatic mutations within the brain play a role in the disease's development. Ultimately, the data proposes that mosaic alterations may allow certain neurons to survive at the cost of normal neurological function.

Title: Genomic mosaicism with increased amyloid precursor protein (APP) gene copy number in single neurons from sporadic Alzheimer's disease brainsAuthors:Di...

21/01/2026

Title: Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

Authors:
Sergio I. Nemirovsky¹‡, Marta Córdoba⁴‡, Jonathan J. Zaiat¹, Sabrina P. Completa¹, Patricia A. Vega⁴, Dolores González-Morón⁴, Nancy M. Medina⁴, Mónica Fabbro², Soledad Romero², Bianca Brun², Santiago Revale², Maria Florencia Ogara⁵, Adali Pecci⁶, Marcelo Marti¹,³, Martin Vazquez², Adrián Turjanski¹,³, Marcelo A. Kauffman⁴* (*Corresponding author)

This research article examines the effectiveness of whole genome sequencing in diagnosing complex, genetically diverse conditions like Autism Spectrum Disorder (ASD). Researchers studied three male siblings who exhibited severe intellectual disabilities, epilepsy, and social impairments despite having healthy parents. Through advanced bioinformatic analysis, the team discovered a previously unknown SHANK3 gene mutation shared by all three brothers. Because the mutation was absent in the parents' blood but present in the children, the study suggests germline mosaicism as the underlying cause. This finding highlights the critical role of the SHANK3 protein in brain development and demonstrates how genomic technology can resolve long-standing diagnostic uncertainties for families. Ultimately, the study advocates for the clinical use of comprehensive DNA sequencing to identify specific genetic triggers in hereditary neurodevelopmental disorders

Title: Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum DisorderAuthors:Sergio I. Nemirovsky¹‡, Marta Córdoba⁴‡, Jonatha...

21/01/2026

تحية خاصة كبيرة لأحدث أبرز المعجبين لديّ! Ali Ibrahiem Alsaid Gharip