Our Endeavors

Find information about what we're working on, including participant resources

Our Impact

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The Center of Excellence for Human Genetics (COE4 Human Genetics) plays a crucial role in advancing genetics research, improving healthcare outcomes, and shaping policies for genetic disorder management in Pakistan. The impact of our mission can be measured through key statistics and achievements

​Addressing Genetic Disorders in Pakistan

• Over 1.2 million children in Pakistan are born with genetic diseases each year.
• 38% of childhood deaths in Pakistan are linked to genetic disorders.
• Beta-Thalassemia affects around 100,000 patients, with 5,000 new cases annually.
• Cystic Fibrosis is estimated to affect 1 in 2,500 newborns.
• Congenital abnormalities contribute to 6-8% of neonatal mortality rates.

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By promoting early genetic screening and precision medicine, COE4 Human Genetics contributes to reducing mortality rates and improving healthcare outcomes for these patients.

​ Economic Impact of Genetic Diseases

• The economic burden of genetic disorders in Pakistan is estimated at over $1 billion annually in healthcare costs.
• Early diagnosis through genetic testing can reduce healthcare expenses by 30% and improve patient survival rates.

COE4 Human Genetics is working towards the development of a national genomic database to improve disease tracking, early interventions, and cost-effective healthcare solutions.

​Our Focus Areas

​Beta-Thalassemia

Beta-Thalassemia is a genetic blood disorder that reduces the production of hemoglobin, the protein in red blood cells responsible for carrying oxygen throughout the body. This leads to anemia, fatigue, growth delays, and organ complications.

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Cystic Fibrosis

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​Cystic Fibrosis (CF) is a genetic disorder that affects the lungs, digestive system, and other organs. It is caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, leading to the production of thick, sticky mucus that clogs airways and disrupts normal organ function.

Congenital Abnormalities

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​Congenital abnormalities, also known as birth defects, are structural or functional disorders present at birth that affect different parts of the body, including the heart, brain, limbs, and organs. These abnormalities can be caused by genetic mutations, environmental factors, infections, or maternal health conditions during pregnancy.

​Academic Initiatives

Collaboration & Partnership Opportunities

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​At COE4 Human Genetics, we believe in collaborative innovation to advance genomic research and healthcare. We partner with universities, research institutes, biotech firms, and global organizations to drive breakthroughs in genetic diagnostics, precision medicine, and bioinformatics.

​🔹 Research Collaborations – Partnering on genetic disorder studies, AI-driven diagnostics, and public health initiatives.
🔹 Industry Partnerships – Working with biotech and tech firms to develop genomic databases, precision medicine tools, and telemedicine solutions.
🔹 Internship & Training – Offering hands-on research programs in genetics, AI, and data science.
🔹 Global Alliances – Collaborating with NIH, Genomics England, FINN GEN, and Saudi Genome Program to advance genetic research.

Workshops and Training

We offer regular training sessions, workshops, and webinars designed for healthcare professionals, researchers, and students, focusing on:
🔹 Genetic Testing Techniques – Advanced methodologies for accurate diagnosis and screening.
🔹 Bioinformatics & Data Analysis – Harnessing computational tools for genetic research.
🔹 Ethical Considerations in Genomics – Ensuring responsible and ethical use of genetic data.

Fellowship and Internship Opportunities

We support young scientists and students by providing hands-on experience in genetic research and clinical applications through:
🔹 Internships & Fellowships – Practical training in genetics, bioinformatics, and precision medicine.
🔹 Research Opportunities – Real-world projects in genetic diagnostics and disease studies.
🔹 Mentorship & Career Development – Guidance from industry experts and leading researchers.

Publications and Contributions

Our research findings are regularly published in leading scientific journals, contributing to the global body of knowledge in genetics.
​🔹 Gene Therapy Innovations – Breakthroughs in treating genetic disorders.
🔹 Epigenetics & Chronic Diseases – Understanding how gene regulation impacts health.
🔹 Genomic Insights into Rare Diseases – Unlocking genetic factors behind rare conditions.

Research Facilities and Resources

Our state-of-the-art laboratories and advanced bioinformatics tools enable groundbreaking discoveries in genetics.
​🔹 Next-Generation Sequencing (NGS) – High-precision genetic analysis.
🔹 Advanced Computational Tools – Powerful data processing for genomic research.
🔹 Extensive Genomic Databases – Access to diverse patient cohorts for in-depth studies.

Genomic Database & Personalized Medicine

We are building a comprehensive genomic database for the Pakistani population to advance genetic research, disease prevention, and precision medicine.
🔹 National Genomic Database – Cataloging genetic variations for disease prediction and research.
🔹 Genetic Testing for Personalized Medicine – Tailoring treatments based on individual genetic profiles.
🔹 AI-Driven Risk Assessment – Using advanced analytics to predict and prevent genetic disorders.