Prof. Mohamed Mustafa Hafez established the Genetics Unit in 1978 as a scientific school and an advanced and important specialty in the field of advanced technology for genetic engineering, genes and their mutations, chromosomes, hereditary immunity, and metabolic disorders. Genetic diseases in various genetic diseases and early prenatal diagnosis. The unit has become a scientific school in an advanced scientific and technological specialty that includes faculty members, scholars, and technicians.

Service provided: 

The unit provides diagnosis and treatment of various hereditary and metabolic diseases in infants and children using various diagnostic tools including

• Karyotyping

• High-resolution karyotyping

• SMN gene for motor neurons: SMN1 and SMN2 (Exon 7 and Exon 8)

• Mediterranean familial fever (MEFVgene: 13 mutations by real-time PCR)

• Cystic fibrosis (CFTR: 8 common mutations, 16 rare mutations by real-time PCR)

• Fragile X gene

• Azospermia factor AZF gene test for male infertility (Azospermia)

• HPLC (HBA, HBF, HBA2, HBS)

• Thrombophilia for factor II and V Leiden mutation analysis

• Enzyme assay, genetic testing, and enzyme replacement therapy for some lysosomal disorders such as

- Mucopolysaccharidosis type I (Drosema)

- Mucopolysaccharidosis type 2 (Hunterase)

- Mucopolysaccharidosis type IV (Fymzyme)

- Mucopolysaccharidosis type VI (Naglazyme)

Enzyme screening, genetic testing, and enzyme replacement therapy for glycogen storage disease Pompe (myozyme)

• Nutritional treatment of some congenital disorders of metabolism:

- Phenylketonuria (PKU 1,2,3 and Iloprofen combination)

- Glutaric acidemia (XLYS, low try Maxmaid)

- Methylmalonic acid (Anamex infant MMA/PA) 

- Maple Urine Syrup Disease (MSUD anamix)

- Protein-free - High-calorie (Duqi):

* Hyperammonemia

* Disadvantages of the urea cycle

- Low in long-chain triglycerides (LCT) and high in medium-chain triglycerides (85%) (monogen) shown in:

 Long chain fatty acid oxidation

 Chylothorax.

Cystic fibrosis.

 Hyperlipidemia type 1.

 Intestinal lymphangiectasia.

- Intractable malabsorption with steatorrhea.

 Nutrition after surgery in short bowel syndrome.

Other lipid and lymphatic disorders where a low-fat and/or low-LCT and high-MCT diet is indicated.

- Ketocal 3:1 (Fat: Carbohydrate, Protein) is described in:

1. Pyruvate dehydrogenase deficiency

2. Glucose transporter type-1 excretion

3. Intractable epilepsy 

• Treatment of severe hyperammonemia and acute decompensation of UCD

* Carglumic acid (Carbaglu) 

Unit Head:

Mansoura University - Mansoura University Children Hospital (Outpatient Clinics Building - Fourth Floor).

 

Genetic cure diseases - MENTAL - premarital tests - recurrent miscarriage - Genetic survey of relatives cases.

:Therapy Services

Clinical therapy for different cases and the unit hopes gene therapy in the near future .

Teaching:

Teaching genetics, genetic diseases and uses cutting-edge technology in the diagnosis and treatment of undergraduate and graduate studies (diploma - Master - PhD: Department of pediatric - women and childbirth - ENT, audiology and speech).

Scientific Research

  • The unit perform series of advanced research in genetic diseases that are significant and have produced significant results published in Scientific Journals specialized facility "list research" The Unit cooperation in joint research with the Egyptian universities, abroad universities and scientific centers.
  • The unit send cadres for training abroad also receives foreign experts to gain experience and upgrade performance.
  • The unit work part scientific to a large number of Masters and PhDs for the pediatric department and for sections of the Faculty of Medicine of various "clinical and academic" that relationship genetic diseases and also the part practical Masters and Doctorate for colleges include the University of Mansoura, such as the Faculty of Science, and also for universities such as the Faculty of Alexandria - Ain Shams medicine and also national Research Center.


Diagnosis and treatment of disease and followed

During 33 years (from 1978 until now) has been providing medical services as follows: -
 

  • Detection and action necessary tests, diagnosis and follow-up of more than 30,000 patients with their families, these patients from all provinces as well as patients converters from other universities and hospitals across the republic.
  • Prenatal diagnosis of more than 1,500 cases during pregnancy, which has helped to solve health problems have caused an increase in the disability rate and help to early treatment to save these children.
  • Systematic program for the detection of birth for the early diagnosis of serious illnesses and treatment of these newborns, which had a significant impact in the rescue (according to follow-up these services are made by medical (outpatient - inpatient department)

Training

  • Train different (faculty members - students - technicians) among workers unity in other faculty Departments, other universities and scientific centers such as the University of Zagazig - Azhar - Assiut and Alexandria and also cadres of the Ministry of Health Some group followed project.

guidance genetic importance of genetic diseases and spread: -

  • Training on advanced technological means in the study of chromosomes and genes and genetic immune diagnosis during pregnancy and in the periods to train staff of the University and other universities and workshops.
  • The practical part of the doctoral dissertations and master's students from Mansoura University and other universities.

Staff

NumNameThe Specialization
1 Ali Ibrahim Shaltut Professor of Pediatrics
2 Mohamed Abd al-Rahman Ahmad Wahba Shuqair Professor of Pediatrics
3 Prof. Mohammed Mohammed Saleh Al Hagar Professor of Pediatrics
4 Prof. Sohir Yehia Abdel Razek Mohamed Professor of Pediatrics,Head
5 Dr. Yahya Mohamed Mukhtar Wahba Lecturere of Pediatrics
6 Dr. Raneem Mohammed Hassanin Lecturere of Pediatrics
7 Dr. Heba Mohammed El-Taher Lecturere of Pediatrics
8 Dr. Zahraa Abdul Moneim Abdullah Asst.Lecturere of Pediatrics 
9 Dr. ina Mohamed Abdel Latif Fakhry Asst.Lecturere of Pediatrics

1. Cytogenetic Chromosomes Lab

The faculty members are responsible for it: Prof. Dr. Mohamed Shukair

Supervisor of the laboratory:Dr. Faiza Abdul-Mujeeb Al-Dahtouri

Nature of work:

  • The work of chromosomal cultures.
  • For patients with genetic diseases such as Down syndrome and other genetic diseases that need to be diagnosed by chromosomal culture.
  • For recurrent miscarriages, it works for the father and mother, as well as for the fetuses.
  • For premarital cases who have a family history of any genetic diseases.
  • For infertility cases.
  • For Intersex.
  • For cases of primary amenorrheo.
  • Also, making chromosomal cultures for leukemia cases, as these cultures are useful in diagnosis and treatment.
  • In situ hybridization using the FISH device for leukemia, intersex cases, and microdeletion cases.
  • Performing a chromosomal breakage test to diagnose cases of Fanukoni anemia.

electronic systems

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Contact Data

60 Al-Gomhoria Street, Children's Hospital, Mansoura University, 35516

  02+ (050) 2200207 - 2200204

  02+ (050) 2200206 - 2238673

  chhweb@mans.edu.eg

Number of visits

Number of visits
905626

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