ERN-ITHACA – Timisoara Center (Ro-NMCA-ID)

Spitalul Clinic de Urgenta pentru Copii “Louis Turcanu” Timisoara
Doctor Iosif Nemoianu Street no 2
400011 TIMISOARA
ROMANIA

Lead

Scope

Romanian Network for Multiple Congenital Abnormalities with Intellectual Disability (Ro-NMCA-ID) is a network within 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 people with rare congenital anomalies and/or ID from Romania. The scope of expertise of Ro-NMCA-ID includes:

• multiple congenital anomalies and intellectual disability (especially syndromes caused by X linked intellectual disability, chromosomal rearrangements and microdeletions/duplications); RASopathies, ciliopathies and other.

Service to patients

Through its centers Ro-NMCA-ID, the network contributes to patient care by offering clinical evaluation and diagnosis, genetic testing, familial screening, genetic counseling, treatment, prenatal diagnosis, follow up, coordination of the medical care and education of patients 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 center offers educational and supportive therapy. These are: 

1. “Louis Turcanu” Clinical Emergency Hospital for Children  Timisoara, Regional Centre for Medical Genetics Timis  (coordinator Prof. Dr Chirita-Emandi Adela); 
2. County Emergency Hospital Craiova, Expertise Center for Congenital anomalies prevention, genetic diagnostic and management (coordinator: Associate Prof.dr. Ioana Streata) 
3. “Sfanta Maria” Paediatric Emergency Hospital Iasi Regional Centre for Medical Genetics Iasi (coordinator: Prof. Dr. Cristina Rusu) 
4. Bihor County Emergency Clinical Hospital – Regional Centre for Medical Genetics Bihor (coordinator: Prof. Dr. Claudia Jurcă) 

5. NoRo Pilot Reference Centre for Rare Diseases in Zalau (coordinator: Dorica Dan); 

Ro-NMCA-ID offers full coverage of general and specialized medical care for children, adults and pregnant women. The Centers of Medical Genetics from Timisoara, Craiova, Iasi and Oradea were formed by Ministry of Health in 2014 on mature existing genetic departments. Each center has hospital beds (inpatient care), outpatient care facilities and laboratories. The Noro Center in Zalau completes the Romanian network with supportive medical and social services, patient/family empowerment, alongside efforts to raise awareness for rare diseases. 

1. The Regional Center of Medical Genetics Timiș, in the “Louis Turcanu” Clinical Emergency Hospital for Children  Timisoara specializes in the comprehensive management of patients with genetic disorders including those with intellectual disabilities and syndromes with or without congenital malformations. Serving both children and adults, the center provides expert clinical diagnosis, genetic counseling, treatment and long-term monitoring for families affected by rare genetic disorders, by in-patient care (hospitalization) and outpatient care (ambulatory). Through its collaboration with the Center for Genomic Medicine (University of Medicine and Pharmacy Victor Babeș Timișoara) the center utilizes advanced technologies—including SNP array for detecting microdeletions and microduplications and Next Generation Sequencing (NGS)—to identify the underlying causes of complex neurodevelopmental and multi-systemic conditions. 
2. The Expertise Center for Congenital anomalies prevention, genetic diagnostic and management in the County Emergency Hospital Craiova has a strong expertise in prenatal genetic screening and diagnosis of chromosomal disorders, but also with X-linked intellectual disabilities and microdeletions / microduplications syndromes testing. The centre from Craiova was appointed by the Romanian Ministry of Health as Competent Authority to implement the JARDIN project between 2024 – 2026. The Expertise Centre from Craiova provides specialized clinical and diagnostic services for children and adults with rare genetic disorders. Clinical activities include diagnostic evaluation, patient management, and genetic counselling, with a multidisciplinary approach to care. Diagnostic activities are closely integrated with the genetic laboratory of the Regional Centre of Medical Genetics Dolj – and are based on genome-scale technologies, including molecular karyotyping (aCGH and SNP array) and Next Generation Sequencing (NGS) methods such as targeted gene panels, whole exome sequencing (WES), and whole genome sequencing (WGS). 
3. Regional Center of Medical Genetics Iasi in the “Sfanta Maria” Paediatric Emergency Clinical Hospital Iasi has broad expertise in dysmorphology and includes a Medical Genetics Centre since 1985. It covers approximately 20% of the Romanian population. Iasi Center provides integrated clinical care – specialist diagnosis, health management, and genetic counseling for patients with rare genetic disorders, mainly neurodevelopmental conditions, and congenital anomalies. Apart of Dysmorphology, the center has a particular experience in the management of patients with behavioral disorders (especially autism spectrum disorders), hearing loss, growth disorders and disorders of sex development.  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 center was a pilot center for IT tool in RD CODE project and promotes the implementation of the Orphanet nomenclature in health coding systems. Prof. dr. Cristina Rusu is also the coordinator of Orphanet Romanian Team since 2010. 
4. The Regional Center of Medical Genetics Bihor, in the Bihor County Emergency Clinical Hospital Oradea, Romania has broad expertise in clinical genetics and dysmorphology, with a long-term tradition of more than 35 years in the diagnosis of a wide spectrum of genetic disorders. The center is actively involved in the evaluation and management of patients with rare genetic conditions, including inherited and developmental disorders, with particular expertise in the diagnosis of multiple congenital anomalies associated with intellectual disability. The center provides laboratory services in cytogenetics and molecular genetics, including MLPA and Sanger sequencing performed on blood samples, and is actively involved in newborn screening programs, with a focus on Spinal Muscular Atrophy (SMA), enabling accurate diagnosis and early therapeutic intervention. 
5. The NoRo Centre in Zalau was established in 2011 by Romanian Prader Willi Association. The Center enhances the national rare disease system by providing integrated medical, social, and supportive services focused on patient empowerment and awareness. As an accredited centre of expertise, it utilizes a multidisciplinary team of over 30 professionals—including doctors, therapists, and case managers—to deliver therapeutic care, professional training, and research. Services include rehabilitation in day care settings for over 80 individuals, case management with community providers, and disease-specific group sessions that combine therapy with education. NoRo also facilitates independent living programmes for young adults and operates a dedicated helpline within the Eurordis network. Furthermore, the Centre coordinates national health programmes under the National Health Insurance system, ensuring specialized care and guidance are accessible to both patients and healthcare professionals across the country.