A new landmark genetic study has uncovered important insights into breast cancer risk among South African women. The research, led by a collaborative team of scientists and published in Nature, used genome-wide association analysis (GWAS) to explore genetic variants linked to breast cancer in this historically underrepresented population.
By analyzing over 3,500 participants (including 2,485 breast cancer cases), the study identified two significant risk loci—one between the UNC13C and RAB27A genes on chromosome 15, and another within the USP22 gene on chromosome 17. These findings mark the first time these regions have been linked to breast cancer in African populations.
Interestingly, the study also found that polygenic risk scores (PRS) developed from European ancestry datasets poorly predicted risk in this group—explaining less than 1% of the variance. This underlines a growing call in the genomics community: the need for African-specific data to create more accurate and equitable tools for disease prediction and prevention.
Ultimately, this research reinforces the importance of diversity in genomic studies and highlights how African biobanks and community-centered research can reshape global health outcomes.
Want to dive deeper into this research?
Read the full article here:
https://www.nature.com/articles/s41467-025-58789-0
MyAfroDNA, a pioneering African genomics and translational research company, officially launched its new facility in Port Harcourt, Nigeria, on April 25, 2025.
Located at No. 3 MyAfroDNA Close, Off Worgumati Street, Tombia Extension GRA, Port Harcourt, the newly inaugurated center will enhance access to ethically sourced African biospecimens, provide cutting-edge molecular and clinical diagnostic services, and offer comprehensive research collaboration support for scientists globally.
The opening ceremony was graced by key dignitaries, community leaders, academia, and healthcare professionals, including Professor Isaac Zeb-Obipi, Vice Chancellor, Rivers State University; His Royal Majesty Eze Noble Uwoh, King of Igbu Ehuda Kingdom IV; Professor Julian Osuji, Director Regional Centre for Biotechnology and Bioresources Research at the University of Port Harcourt and Co-Chair African BioGenome Project; Mr. Robert Robinson, President, Laboratory Equipment, Thermo Fisher Scientific; Mr. Romeo, State Representative, Medical Laboratory Science Council of Nigeria (MLSCN); Hon. Adaeze Oreh, Commission of Health Rivers State; Prof. Dike Alikor, CMD RSUTH; Prof Kinikanwo Green, Executive Secretary RSPHCMB.
In his remarks, the Vice Chancellor of Rivers State University emphasized the importance of facilities like MyAfroDNA in global efforts to bridge representation gaps in clinical research. HRM Eze Noble Uwoh also commended MyAfroDNA’s commitment to scientific excellence and community development, especially for forensics research.
About MyAfroDNA:
MyAfroDNA provides access to diverse African biospecimens across several therapeutic areas and supports researchers in diversifying clinical, genomics, and translational research efforts. Our infrastructure houses molecular diagnostic labs, an African biobank, Diagnostics, Paternity & Forensics room, and a virtual Bioinformatics and Data Centre.
Our services include African biobanking, molecular and clinical testing, customized research support, and contract research organization services. By enabling equitable representation in biomedical studies, MyAfroDNA is helping unlock novel insights into public health, genetic medicine, and personalized care.
For more information, please visit www.myafrodna.com or contact us at info@myafrodna.com.
Yale researchers have developed an advanced CRISPR-Cas9 gene-editing system that enables simultaneous modifications across multiple genes, a breakthrough that could transform disease research and treatment development.
Unlike traditional CRISPR methods, which target single genes at a time, this new approach allows scientists to study complex genetic interactions in diseases such as cancer, autoimmune disorders, and neurological conditions.
Using sophisticated mouse models, the research team demonstrated how this enhanced CRISPR system could map genetic pathways and identify potential therapeutic targets more effectively. The ability to edit multiple genes at once provides a deeper understanding of how different mutations contribute to disease, paving the way for more precise gene-based treatments. This advancement is expected to accelerate the development of personalized medicine and improve therapies for conditions with complex genetic underpinnings.
Funded by the National Institutes of Health and the U.S. Department of Defense, this research represents a significant leap forward in biotechnology. By expanding the capabilities of CRISPR, Yale scientists have created a tool that could revolutionize genetic research, offering hope for new treatments in fields ranging from oncology to regenerative medicine.
Learn more about this research: https://www.sciencedaily.com/releases/2025/03/250320145239.htm
A new study led by researchers at Uppsala University has shed light on the deep genetic history of the Fulani people, one of Africa’s largest nomadic pastoralist populations. With over 40 million individuals spread across the Sahel and West Africa, the Fulani have long fascinated historians, linguists, and geneticists. Yet, their ancestry remained largely underrepresented in genomic research until now.
Drawing on data from more than 460 participants across seven African countries, the study reveals that the Fulani's genetic profile is a unique mosaic shaped by ancient migrations and centuries of intermingling with neighboring populations. All Fulani groups studied share a common ancestry linked to the Green Sahara period (12,000–5,000 years ago), a time when now-arid regions of Africa were lush and fertile, supporting early human settlement and pastoralism.
What’s particularly compelling is how the Fulani have preserved a shared genetic signature across vast distances, despite cultural and geographic differences. These findings don’t just contribute to our understanding of African history, they also underscore the importance of including more African populations in genomic research, which has implications for medical science, anthropology, and the global understanding of human diversity.
You can read the full article on Science Daily here: https://www.sciencedaily.com/releases/2025/02/250211134303.htm
Could RNA Editing Be the Future of Medicine? New Study Reveals HowResearchers at Rice University have uncovered new insights into ADAR1, a crucial enzyme that modifies RNA to regulate immune responses.
Their study reveals how ADAR1 prevents unnecessary immune activation by converting adenosine to inosine in double-stranded RNA. By analyzing the enzyme’s biochemical and structural properties, scientists discovered that its editing activity depends on RNA sequence, duplex length, and nearby mismatches, shedding light on how mutations in ADAR1 contribute to autoimmune diseases and cancer.The findings suggest that defects in ADAR1’s function may lead to abnormal immune signaling, increasing the risk of inflammatory disorders and tumor development.
By studying disease-related mutations, researchers demonstrated that certain genetic changes impair the enzyme’s ability to edit short RNA sequences, potentially disrupting immune regulation. High-resolution structural models provided a clearer understanding of how ADAR1 interacts with RNA, paving the way for targeted drug development.This breakthrough could open new avenues for RNA-based therapies, including treatments for autoimmune diseases and cancer immunotherapy. By modulating ADAR1 activity, scientists hope to develop precision medicine approaches that fine-tune immune responses. While further research is needed to translate these findings into clinical applications, the study provides a strong foundation for designing therapies that harness RNA editing to treat complex diseases.
Learn more here: https://www.sciencedaily.com/releases/2025/03/250317163518.htm
DNA Damages Found to Last Unrepaired for Years, Leading to Mutations that Cause Cancer
This research brings our minds back to the fact that cells in our body can develop somatic mutations as a result of accumulated genetic errors in the genome. This is mostly caused by environmental exposures and other chemical reactions that occur in our cells.
This reveals that wrong copies of a genetic sequence can occur because of DNA Damage. However, there are repair mechanisms within our cells that usually recognize and mend the DNA damage quickly. by repair mechanisms in our cells. The sad part is that these DNA Damages can last unrepaired for years which brings about permanent mutations that lead to the development of various kinds of cancers.
This research reveals a better way science can think about mutations, and understand the development of various cancers. With a proper understanding of mutations leading to cancer, researchers can invent better strategies to slow or completely eradicate them.
Read the full research here.
Over the years, genome sequencing has improved healthcare in no small way. In recent times, researchers have found possible ways to identify potential genetic risks for thousands of diseases by simply analyzing a baby's DNA at birth.
Here are some benefits of newborn genome screening:
- Early Disease Detection: Genome sequencing can detect genetic disorders before the symptoms appear, preventing serious health complications.
- Personalized Care: This technology can help streamline medical care to each child's unique genetic makeup.
However, there are some important ethical considerations to be made such as privacy, consent, and the potential for unintended consequences.
As research progresses, genome sequencing holds the potential to revolutionize newborn care and improve the health and well-being of future generations.
Read more about newborn genome screening here.
Researchers from the National Institutes of Health (NIH) have uncovered that a single genetic variant in the APOL1 gene notably raises the risk of chronic kidney disease (CKD) in people of West African descent. The study, carried out with support from the H3Africa Kidney Disease Research Network and published in The New England Journal of Medicine, reveals that these specific APOL1 gene variants increase the likelihood of both CKD and focal segmental glomerulosclerosis (FSGS).
While earlier research linked APOL1 genetic variants with a higher risk of CKD among African Americans, there has been limited data on their impact on individuals in West Africa—a region that shares genetic ties with many African Americans.
“This study offers valuable insights on West African populations and enhances our understanding of the APOL1 gene's role in chronic kidney disease risk,” explained Dr. Adebowale A. Adeyemo, deputy director at the NIH’s Center for Research on Genomics and Global Health. This research aims to contribute to better risk assessments for kidney disease in communities with West African heritage, which could be beneficial for many people in the U.S.
For the study, over 8,000 participants from Ghana and Nigeria were recruited, with nearly 5,000 having been diagnosed with CKD and over 800 undergoing kidney biopsies to confirm their diagnosis. Results revealed that around one-third of participants carried APOL1 variants linked to an increased risk of CKD (43% had one variant, while 29.7% had two). Notably, possessing just one APOL1 risk variant was associated with a heightened CKD risk, diverging from prior studies in African Americans that suggested two copies of the variant were necessary for elevated risk.
Beyond CKD, the study found that APOL1 variants also significantly raised the likelihood of developing FSGS, a rare kidney disorder marked by tissue scarring. Those with two APOL1 risk alleles faced an 84% higher risk of FSGS, and those with one variant had a 61% greater risk.
“Research findings from one group are often generalized, but diversity within ancestry groups can be substantial,” Dr. Adeyemo added. “This study underscores the value of studying global populations to advance equitable genomic medicine.”
Chronic kidney disease is a major health issue, affecting over 37 million adults in the U.S. alone. It is more common among African American, Hispanic American, and Native American populations, influenced by both genetic and environmental factors. CKD’s complex progression, often without clear early symptoms, highlights the importance of early detection and intervention, especially in people with diabetes or hypertension.
Dr. Paul Kimmel, program director at the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and a co-author of the study, noted, “Research with U.S. participants will further clarify APOL1’s impact on kidney health. We hope these insights will help improve care for patients at risk of or already experiencing kidney disease.”
The study’s significance extends globally, with APOL1 variants also found in populations from Europe, Asia, and the Americas.
In a historic achievement, Egypt has been declared malaria-free by the World Health Organization (WHO). This milestone is a testament to the country's unwavering commitment to combating the disease.
For decades, Egypt fought tirelessly to eliminate malaria. The country's success story began with robust surveillance, research, and community engagement. Strategic partnerships and investments in healthcare infrastructure also played a crucial role.
This achievement has far-reaching implications for Africa. Malaria remains a leading cause of morbidity and mortality across the continent. Egypt's victory demonstrates that with collective effort, African countries can overcome this challenge.
At MyAfroDNA, we're inspired by Egypt's triumph. Our mission is to bridge the gap in genetic research, promote health equity, and advance medical breakthroughs for African populations.
We believe that collaborative research, innovation, and community engagement are key to tackling Africa's health challenges.
Join the Fight Against Diseases in Africa. If you share our vision, partner with us to:
- Advance precision medicine for African populations
- Foster inclusive research practices
- Drive health equity
Let's work together to create a healthier Africa.
Learn more about Egypt's milestone in combating malaria.