(Romanian Network – Multiple Congenital Abnormalities with Intellectual Disability)


Ro-NMCA-ID is a network withih the ITHACA European Reference Network (ERN) that covers syndromic and non-syndromic conditions with developmental anomalies and/or intellectual disability (ID). Ro-NMCA-ID aims to provide integrated services and ensure continuity of care for persons with rare congenital anomalies and/or ID from Romania. The jurisdiction and scope of expertise of Ro-NMCA-ID includes:


  • multiple congenital anomalies and intellectual disability (especially X linked intellectual disability, subtelomeric rearrangements and microdeletions/microduplications); RASopathies, ciliopathies, chromosomal syndromes, autism spectrum disorders and fetal alcohol syndrome.


Services to patients

Through its regional centres Ro-NMCA-ID covers all the Romanian inhabitants. The network contributes to patient care by offering clinical diagnosis, genetic testing, familial screening, genetic counseling, neuropsychological and neuropsychiatric evaluation, prenatal diagnosis, follow up and coordination of the day care and reeducation of patients, and therapeutic assays in the field of developmental anomalies.


Organization of the ITHACA ERN – Ro-NMCA-ID


Ro-NMCA-ID is based on five existing structures with previous collaboration. The four hospitals have expertise in diagnostic, preventive and treatment procedures in genetic diseases, while NoRo centre offers educational and supportive therapy. These are:

  1. L.Turcanu Paediatric Emergency Hospital Timisoara (Regional Centre for Medical Genetics Timis -coordinator Prof Maria Puiu);
  2. NoRo Pilot Reference Centre for Rare Diseases in Zalau (coordinator Dorica Dan);
  3. County Emergency Hospital Craiova (Regional Centre for Medical Genetics Dolj -coordinator: Assoc. Prof. Mihai Ioana)
  4. “Sfanta Maria” Paediatric Emergency Hospital Iasi, Medical Genetics Center (coordinator Prof Cristina Rusu)
  5. Municipal Hospital ”Dr. Gavril Curteanu” Oradea (Regional Centre for Medical Genetics Bihor- coordinator Dr. Claudia Jurca)


Ro-NMCA-ID offers full coverage of general and specialized cares for children, adults and pregnant women. The Regional Centres of Medical Genetics from Timisoara, Oradea and Craiova were created in 2014 on mature existing genetic departments in “Louis Turcanu” Emergency Hospital for Children Timisoara, County Emergency Hospital Craiova and Municipal Hospital ”Gavril Curteanu” Oradea. Each have five hospital beds (inpatient care), outpatient care facilities and laboratories. ”Sfanta Maria” Paediatric Emergency Clinical Hospital Iasi includes an outpatient unit, a hospital sector with 3 beds and lab services.


  • The Centre in Timisoara brings a rich experience with paediatric patients and high throughput SNP array and sequencing equipment. The team from Timisoara has gained increased expertise with Prader Willi Syndrome. The Centre in Timisoara collaborates with the Centre of Genomic Medicine – University of Medicine Timisoara ( that includes:
    Ø Next Generation Sequencing Lab (Illumina Technology MySeq, HiSeq2500),
    Ø Microarray Lab (InnoScan and IScan Illumina),
    Ø Quantitative Genotyping Lab,
    Ø Bio IT Lab, Pre PCR Lab,
    Ø Cytogenetic lab, Translational Research Lab
    Ø Metabolomics and proteomic labs.


  • The Centre of in Craiova ( ) has a strong expertise in prenatal genetic screening and diagnosis of chromosomal disorders, but also with Xlinked intellectual disabilities and microdeletions / microduplications syndromes testing. The laboratory within the Regional Centre of Medical Genetics from Craiova performs:
    ü conventional cytogenetic analysis,
    ü RT-PCR based methods(ViiA7-Applied Biosystems),
    ü QF-PCR (ABI Genetic Analyzer 3730);
    ü MLPA (CEQ8000-Beckman Coulter sequencer),
    ü arrayCGH/CGH + SNParray(Agilent) and
    ü Sanger sequencing(CEQ8000-Beckman Coulter sequencer).


  • ”Sfanta Maria” Paediatric Emergency Clinical Hospital Iasi hasbroad expertise in dysmorphology and includes a Medical Genetics Centre since 1985. The center has been nominated as Medical Genetics Regional Center in 2014 and is in due course to be recognized. It covers approximately 20% of the Romanian population. The laboratory services are provided through cooperation with the Molecular Medicine Platform of the University of Medicine and Pharmacy in Iasi (especially X linked intellectual disability, subtelomeric rearrangements and microdeletions/microduplications)
  • The Regional Center of Medical Genetics Oradea has broad expertise in dysmorphology and a long term tradition (more than 30 years) in the diagnosis of multiple congenital anomalies and intellectual disability.


  • The NoRo Centre completes the network with supportive medical and social services, patient/family empowerment, alongside efforts to raise awareness for rare diseases.It is a resource centre providing therapeutic and medical services. It is accredited for medical and social services, as a training provider and for research capacity. Its main objective is to provide integrated social and care services to people affected by rare diseases and their families through improving access to care, information, therapies, research, and education. NoRo has an interdisciplinary team of 21 professionals (2 doctors, 2 nurses, 3 psychologists, 5 special education teachers, 2 occupational therapists, 2 kineto therapists, 4 case managers, etc.) The NoRo Centre regularly organizes training and care for patients with rare diseases: groups of 12-14 patients with the same rare disease participate every month in one week sessions where they are provided with therapy, education, and rehabilitation. It also provides training for a weekly group of 12 young people with intellectual disabilities with the aim to teach them independent life skills (3 days/ week). Moreover, the Centre is in charge of a day care centre that organizes individual and group therapy for around 50 children with rare diseases and autistic spectrum disorders. A help line is available for clients or professionals looking for information and support and it is part of Eurordis network of HelpLines.