Center objectives:

 Study and record the genetic diseases prevalent among Egyptians and the continuation of the related diagnostic and therapeutic service for patients and their families.

 Searching for new diagnostic, therapeutic and preventive methods of genetic diseases.

 Conducting research on the epidemiology of genetic diseases as it appears among the Egyptians, comparing them with neighboring countries and the population of different peoples, and focusing preventive services on groups sensitive to the field of genetic diseases.

 Preparing and training the different levels of workers in these fields, including faculty members, researchers and technicians in the field of genetics studies and research, diagnosis and treatment of various genetic diseases.

 Providing a climate to create a team of eminent persons in planning to conduct sensitive and applied genetic research and preparing a generation of researchers in various genetic disciplines while opening the field of study for Egyptian students and students of Arab and African countries.

 Supervising the publication and documentation of research and studies in the fields of genetic diseases. Organizing training courses for researchers and workers, and arranging for international conferences in the field of genetics in Egypt, Arab and African countries and various countries of the world, after obtaining the necessary approvals.

 Strengthening the links between the center and the medical genetic services projects within the framework of Egyptian cultural cooperation with various countries of the world, as well as the World Health Organization.

Center's achievements:

Genetics of Intellectual Disability Disorders

The training course included theoretical lectures and hands-on practice focused on the diagnosis and treatment of the most prevalent genetic disorders in Egypt. It was attended by physicians from various hospital departments as well as doctors from the Ministry of Health.

Training Course titled: "Genetic Language for Non-Medical Health Care Providers" aimed at introducing the fundamentals of genetic terminology in the context of medical care.

Participation in a training course in collaboration with the Department of Medical Genetics, titled: "Early Detection of Metabolic Disorders: Diagnostic and Therapeutic Approaches with a Focus on Neonates." This course spanned three weeks and was held at the center’s headquarters.

Training Course on Advances in the Treatment of Rare Diseases, conducted over one week from January 14 to 19, attended by doctors from various specialties.

Secondly – Scientific Seminars and Workshops:

Workshop on Rare Disease Awareness – "Rare Disease Day", two-day awareness event was held. The first day was dedicated to patients with Mucopolysaccharidosis (MPS) to educate them on the nature of the disease, available treatments, and its effects on various physiological functions in children. The second day targeted physicians, focusing on diagnostic approaches and available pharmacological and rehabilitative treatments.

Training Program on Mucopolysaccharidosis, held on September 19, 2019, with the participation of professors from various departments of the faculty (ENT, Anesthesia, Audiology, and Cardiology). The session addressed the key complications faced by MPS patients requiring direct intervention by specialists in these fields to ensure optimal medical care.

Seminar on "Molecular Genetics of DMD and Targeted Therapy"
Conducted via Zoom on September 7, 2021, in observance of World Duchenne Awareness Day, due to the COVID-19 pandemic. Lectures were delivered by physicians from the center in collaboration with the Department of Medical Genetics.

Workshop on "Ethics in Practical Medical Genetics", held on March 17, 2022. The workshop included lectures by doctors from the center and the Department of Medical Genetics, with attendance from physicians across various specialties.

Workshop of the 3rd Conference of the Medical Genetics Department
In collaboration with the Diagnostic Radiology Department and Nutricia Egypt, titled: "The Role of Radiology in Organic Acid Disorders", held on February 23, 2023.

Third – Community Services:

Patient education sessions on Phenylketonuria (PKU) were held every Monday and Wednesday during November 2019, including cooking demonstrations for mothers on preparing low-protein meals.

A booklet on emergency care for metabolic disease patients was published and distributed to patients. Its purpose was to guide emergency doctors in hospitals on how to manage these rare genetic conditions and prevent deterioration until a specialized metabolic physician can be contacted.

Awareness and Ramadan gathering for PKU patients and families was held on April 27, 2022, featuring special dietary meals and a children’s celebration.

Awareness event on Mucopolysaccharidosis Type IV (MPS IV) for patients, families, and doctors was organized on July 7, 2022, in collaboration with the Egyptian Society of Human Genetics and BioMarin, marking International MPS Awareness Day.

Awareness day for children with PKU on August 9, 2022, in cooperation with the Egyptian Society of Human Genetics and Nutricia Egypt, followed by a celebration with special foods and gift distribution for children.

Awareness day for children with PKU on December 11, 2022, in collaboration with the Egyptian Society of Human Genetics and Nutricia Egypt, including the distribution of specialized PKU foods.

Awareness day for children with PKU on March 5, 2023, also organized with the Egyptian Society of Human Genetics and Nutricia Egypt, followed by the distribution of low-protein foods.

Awareness and Ramadan gathering for PKU patients and families held on April 19, 2023, including special meals and a children's celebration.

Awareness day for patients with Osteogenesis Imperfecta (Brittle Bone Disease) was held on Saturday, May 27, 2023, in collaboration with the Egyptian Society of Genetic Disorders, followed by a recreational event for children.

An awareness event for mothers of children with Down Syndrome, organized on Sunday, June 25, 2023, in collaboration with the Friends of Genetic Patients Association.

Fifth – Conferences:

The 1st International Conference of the Medical Genetics Department was held via Zoom due to the COVID-19 pandemic.

The conference was titled:

"The 1st International Conference on Inborn Errors of Metabolism: An Update on UCD” and took place on November 26, 2020.