Welcome to the Genetics Research Foundation
Unlocking the Secrets of Life Through Cutting-Edge Genetics Research
About Us
The Genetics Research Foundation is dedicated to explore the complexities of genetics aiming to advance the development of treatment strategies. Our team of committed scientists and researchers is focused on expanding knowledge and fostering innovation within the realm of genetic research.
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Our VisionIn light of the current genetic disease burden in Pakistan, our vision emphasizes the urgent need for comprehensive genetic database that not only addresses the pressing genetic health concerns of the Pakistani population but also serves as a collective resource for advancing medical knowledge, fostering collaborations, and ultimately improving the overall well-being of our community.
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Genetics Research Foundation
Advancing the field of genetics, clinical genetics, and academic genetics to the next level in Pakistan.
The total burden of genetic diseases affects all cultures and countries and therefore, stereotyping a certain society or country in this regard would be wrong. While on the one hand labeling Pakistan or other countries as inbreeding countries in the press should be considered too simplistic and wrong, at the same time, an estimated 29 million people in Pakistan indeed are suffering from genetic disorders attributed to cousin marriages.
Genetics Research Foundation is a consolidation of the efforts of the medical, scientific and legislative community on a national and international level to coordinate genetics related research and treatment to improve the lives of Pakistanis not only in Pakistan but abroad as well. The field of Genetics has exploded in the last two decades as the technology has improved, and this has allowed us to undertake genetic analysis and identify disease-causing genetic mutations.
In the process of addressing this issue, the first step was establishing an association of these genetic mutations identified with specific diseases. The second step was to screen the affected individuals, their families or populations for these mutations that had been associated with a specific disease. This was a milestone which enabled us to see and locate the specific source for a “syndrome” that had been clinically recognized for generations.
The next chapter in this story of genetics lies in the prevention and treatment of these genetic disorders that we are now finally able to identify. This is where CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) technology and PGTM (Preimplantation Genetic Testing for Monogenic/single gene defects) come in.
PGT-M is testing for known monogenic or single gene disorders. It can be performed prior to pregnancy to greatly reduce the risk of having an offspring affected by the disorder.
The total burden of genetic diseases affects all cultures and countries and therefore, stereotyping a certain society or country in this regard would be wrong. While on the one hand labeling Pakistan or other countries as inbreeding countries in the press should be considered too simplistic and wrong, at the same time, an estimated 29 million people in Pakistan indeed are suffering from genetic disorders attributed to cousin marriages.
Genetics Research Foundation is a consolidation of the efforts of the medical, scientific and legislative community on a national and international level to coordinate genetics related research and treatment to improve the lives of Pakistanis not only in Pakistan but abroad as well. The field of Genetics has exploded in the last two decades as the technology has improved, and this has allowed us to undertake genetic analysis and identify disease-causing genetic mutations.
In the process of addressing this issue, the first step was establishing an association of these genetic mutations identified with specific diseases. The second step was to screen the affected individuals, their families or populations for these mutations that had been associated with a specific disease. This was a milestone which enabled us to see and locate the specific source for a “syndrome” that had been clinically recognized for generations.
The next chapter in this story of genetics lies in the prevention and treatment of these genetic disorders that we are now finally able to identify. This is where CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) technology and PGTM (Preimplantation Genetic Testing for Monogenic/single gene defects) come in.
PGT-M is testing for known monogenic or single gene disorders. It can be performed prior to pregnancy to greatly reduce the risk of having an offspring affected by the disorder.
PGT-M testing involves a close examination of both the mutation an individual carries and the area of the chromosome surrounding it, shown above as the colored segment of each chromosome. Each PGT-M test design is unique and specific to the family, so DNA samples from both partners, and often additional family members, will be requested in order to design a test. Then, linkage analysis is used to determine the “genetic fingerprint” of the mutation and diagnose each tested embryo as affected or unaffected |
The most frequent conditions which could be picked up by PGT-M include cystic fibrosis, spinal muscular atrophy (variations), fragile X syndrome, sickle cell anemia, hereditary breast-ovarian cancer 1, hereditary breast-ovarian cancer 2, huntington disease, polycystic kidney disease variants, Duchenne/ Becker muscular dystrophy, myotonic dystrophy 1+2, neurofibromatosis 1+2, Charcot Marie tooth (variations), 21-hydroxylase deficient congenital adrenal hyperplasia, hemophilia A, familial adenomatous polyposis, and Marfan syndrome.
Now that we have the technology and innovations to understand, identify and prevent transmission of genetic defects, the onus of action is on the leadership of the country, the scientific community and the medical community to come together and provide diagnostic services, medical care, genetic counseling and therapeutic options to the residents of Pakistan.
Towards this goal we have created a collaboration network where the medical community, scientists, geneticists and administrative community can come together and coordinate the efforts towards a common goal which is education, diagnosis, eradication and treatment of genetic disorders in Pakistan. This platform supports and coordinates the research in Pakistan related to genetic disorders as well as genetics related research in academic institutions.
Now that we have the technology and innovations to understand, identify and prevent transmission of genetic defects, the onus of action is on the leadership of the country, the scientific community and the medical community to come together and provide diagnostic services, medical care, genetic counseling and therapeutic options to the residents of Pakistan.
Towards this goal we have created a collaboration network where the medical community, scientists, geneticists and administrative community can come together and coordinate the efforts towards a common goal which is education, diagnosis, eradication and treatment of genetic disorders in Pakistan. This platform supports and coordinates the research in Pakistan related to genetic disorders as well as genetics related research in academic institutions.
Components of the Platform
Salient features and components of this platform include:
- A Genetics and Clinical data bank.
- Information on common genetic disorders affecting families in Pakistan.
- Genetic Counselors - who can help bring the pieces together for physicians and families suspecting underlying genetic components to the presenting family or patient.
- Research in the basic and clinical sciences, related to the field of genetics. This will provide a coordination and communication platform for the scientific community for collaboration of projects and alignment of the efforts of scientists throughout the country towards achieving meaningful targets and goals.
- Education and Training - Professionals will be trained in the field of genetics, including research, genetic counseling and medical genetics.
- Blog - The platform blog will be for the scientific and medical genetics and academic clinical community to discuss and share their ideas and thoughts.
- Guidelines for the administration and Government - It will help establish national policies to direct public funds towards creating the biggest impact for the country. It will help prevent duplication of resources, increase coordination of efforts and resources and maximize the output of efforts in the country. For example, currently there are 32 Thermo Fisher Sequencers, valued at $500,000 each, in different institutions under lock and key in the country. They are not being utilized and are vulnerable to a time that they will become obsolete and public funds will go to waste.
- Computer Science - The contribution of valued time and efforts of the computer science departments in academic institutions in Pakistan are integral to this Platform. A strong tech infrastructure will provide the tools needed to achieve the momentous goals set out by the leadership in the foundation.
- Scientific Advisory Board
What Makes Us Different?
GeneticBank:
Our GeneticBank strives to establish an extensive genomic library, offering dedicated researchers the opportunity to explore genetic diseases with familial patterns and explore strategies for their treatment.
Community Engagement:
Our efforts are focused to build a vibrant community where professionals can actively engage, share insights, and collectively contribute to the database by sharing clinical and genetic study data, along with diverse perspectives from different doctors.
Public Health Initiatives:
The knowledge gained through database will empower healthcare professionals, policymakers, and researchers to deploy customized public health strategies, preventive measures, and targeted interventions that cater to the distinct health requirements of the community.
Our GeneticBank strives to establish an extensive genomic library, offering dedicated researchers the opportunity to explore genetic diseases with familial patterns and explore strategies for their treatment.
Community Engagement:
Our efforts are focused to build a vibrant community where professionals can actively engage, share insights, and collectively contribute to the database by sharing clinical and genetic study data, along with diverse perspectives from different doctors.
Public Health Initiatives:
The knowledge gained through database will empower healthcare professionals, policymakers, and researchers to deploy customized public health strategies, preventive measures, and targeted interventions that cater to the distinct health requirements of the community.
Get Involved
Stand Behind Our Mission:
Join us in advancing genetic research! Your support, whether financial, promotional, or through collaboration, will help us unravel genetic mysteries and improve healthcare outcomes Stay Updated: Stay informed about the latest research discoveries and upcoming events in the field of genetics by subscribing to our newsletter. |