News from Carvalho Lab
Researchers at Baylor College of Medicine have flipped the script on what we thought we knew about inherited diseases. In an eye-opening study led by James R. Lupski, MD, PhD, DSc (Hon), the team uncovered a vital piece of the puzzle behind why some rare diseases emerge. PNRI Assistant Investigator Cláudia Carvalho, PhD, was part of the team of Baylor researchers who uncovered these valuable insights into the genetic mechanisms underlying inherited diseases.
Focus on Unique Genetic Makeup
The study, published in Genetics in Medicine OPEN, spanned over a decade and took researchers deep into the genetic makeup of a unique Turkish population. What they found sheds light on how genetic variants inherited from recent ancestors play a major role in causing recessive genetic diseases.
Using advanced genomic technologies, the team meticulously analyzed the genetic data of 773 Turkish individuals who were clinically affected by suspected inherited diseases, along with 643 relatives who were unaffected by these conditions.
Unlocking the Mysteries of Inherited Diseases
They found that families with higher levels of consanguinity tended to have more instances of complex genetic disorders compared to other groups. Consanguinity occurs when both parents share similar genetic traits, often from a common ancestor, resulting in identical genetic information inherited from both parents. Studying both patients and their healthy relatives helped researchers identify both old and new genetic variations that could cause disease.
Their findings suggest that recent changes in genetic makeup, called haplotypes, together with increased levels of consanguinity, can explain a significant portion of inherited diseases. Importantly, these recent and unique changes can be brought together quickly in these populations, which can help explain intriguing observations of individuals affected by more than one rare inherited disease. These results underscore the relevance of studying genetic diseases in underrepresented populations.
“This work highlights the importance of diversity in genetic research. These findings will not only reshape our understanding of inherited diseases but also guide researchers worldwide in decoding the intricate language of DNA variations and their impact on health.”
Cláudia Carvalho, PhD
PNRI Assistant Investigator
Unveiling Genetic Diversity
But perhaps the most striking revelation is the wealth of genetic diversity found within the Turkish population that is absent in more extensive European databases commonly used by scientists. This unique genetic fingerprint offers profound insights into how genes contribute to various diseases, particularly in recessive disorders passed down through generations.
Dr. Cláudia Carvalho emphasized the significance of the study, “This work highlights the importance of diversity in genetic research. These findings will not only reshape our understanding of inherited diseases but also guide researchers worldwide in decoding the intricate language of DNA variations and their impact on health.”
To delve deeper into this groundbreaking study, visit:
But perhaps the most striking revelation is the wealth of genetic diversity found within the Turkish population that is absent in more extensive European databases commonly used by scientists. This unique genetic fingerprint offers profound insights into how genes contribute to various diseases, particularly in recessive disorders passed down through generations.
Dr. Cláudia Carvalho emphasized the significance of the study, “This work highlights the importance of diversity in genetic research. These findings will not only reshape our understanding of inherited diseases but also guide researchers worldwide in decoding the intricate language of DNA variations and their impact on health.”
To delve deeper into this groundbreaking study, visit: MSN News Medical: Baylor study reveals role of newly inherited DNA variants in recessive diseases.