Rare & Genetic Diseases at Fudan University Children's Hospital Shanghai | CMCS

China's Premier Center for Rare & Genetic Disease Diagnosis in Children

The Department of Rare and Genetic Diseases at Fudan University Children's Hospital (FUCH) is one of China's most distinguished centers for the diagnosis and management of rare genetic diseases in children, with a national reputation for excellence in clinical genetics, genomic diagnostics, inborn errors of metabolism, chromosomal disorders, and the multidisciplinary management of complex rare conditions. The department combines outstanding clinical expertise with one of China's most advanced genomic diagnostic laboratories and a fully integrated multidisciplinary approach, offering international families access to some of China's most eminent clinical geneticists and the latest diagnostic technologies for rare and undiagnosed diseases.

For international families with a child with an undiagnosed rare disease, a suspected genetic syndrome, an inborn error of metabolism, or a complex multi-system condition that has eluded diagnosis elsewhere — FUCH's rare and genetic diseases department represents one of the most compelling destinations in Asia. China Medical Concierge Shanghai (CMCS) provides seamless end-to-end coordination for international families throughout their child's diagnostic and care journey at FUCH.

About the Department

FUCH's rare and genetic diseases department is a national key clinical specialty operating a comprehensive outpatient genetics clinic, a metabolic disease clinic, a dysmorphology clinic, a prenatal genetics service, a genomic diagnostics laboratory, and a multidisciplinary rare disease team that integrates expertise from neurology, cardiology, nephrology, gastroenterology, endocrinology, pulmonology, and other subspecialties to provide comprehensive care for children with complex rare conditions.

The department's genomic diagnostics laboratory is one of the most advanced in China for pediatric rare diseases, providing chromosomal microarray, whole exome sequencing (WES), whole genome sequencing (WGS), RNA sequencing, and multi-omics analysis for undiagnosed rare diseases. Faculty members publish regularly in leading genetics and rare disease journals including American Journal of Human Genetics, Genetics in Medicine, Human Mutation, Journal of Medical Genetics, and Orphanet Journal of Rare Diseases.

Diagnostic Services

Genomic Diagnostics

• Chromosomal Microarray (CMA) — High-resolution SNP array for copy number variants (CNVs) and regions of homozygosity; first-line test for developmental delay, intellectual disability, autism, and multiple congenital anomalies
• Whole Exome Sequencing (WES) — Trio WES (proband + parents) for undiagnosed rare diseases; gene panel WES for specific disease categories; reanalysis of previously non-diagnostic WES with updated variant databases
• Whole Genome Sequencing (WGS) — For cases non-diagnostic after WES; detection of deep intronic variants, structural variants, and repeat expansions missed by WES
• RNA Sequencing (RNA-seq) — For detection of splicing variants and aberrant transcripts not identified by DNA sequencing; functional validation of variants of uncertain significance (VUS)
• Mitochondrial Genome Sequencing — For mitochondrial DNA mutations causing mitochondrial disease
• Repeat Expansion Analysis — Fragile X syndrome (FMR1); myotonic dystrophy (DMPK); Friedreich ataxia (FXN); Huntington disease (HTT)
• Methylation Analysis — Prader-Willi and Angelman syndrome (15q11-q13); Beckwith-Wiedemann syndrome (11p15); imprinting disorders
• Multi-Omics for Undiagnosed Disease — Integrated genomics, transcriptomics, proteomics, and metabolomics for the most challenging undiagnosed cases

Metabolic Disease Diagnostics

• Newborn Screening Follow-Up — Confirmatory testing for positive newborn screens; tandem mass spectrometry (MS/MS) for amino acid and acylcarnitine profiles; urine organic acids; plasma amino acids
• Lysosomal Enzyme Assays — Enzyme activity measurement for Gaucher, Fabry, Pompe, MPS, and other lysosomal storage diseases
• Mitochondrial Function Testing — Respiratory chain enzyme activities; lactate/pyruvate ratio; muscle biopsy for electron microscopy and enzyme histochemistry
• Peroxisomal Disorders — Very long chain fatty acids (VLCFA); phytanic acid; plasmalogens for Zellweger spectrum disorders
• Congenital Disorders of Glycosylation (CDG) — Transferrin isoelectrofocusing; PMM2 and other CDG gene testing
• Neurotransmitter Disorders — CSF neurotransmitters; biogenic amines; GABA; pyridoxine-dependent epilepsy (ALDH7A1)

Conditions Diagnosed & Managed

Chromosomal & Genomic Disorders

• Down Syndrome (Trisomy 21) — Comprehensive medical management; cardiac, thyroid, and hematological surveillance; early intervention; lecanemab trials for Alzheimer prevention in DS adults
• Turner Syndrome (45,X) — Growth hormone therapy; estrogen replacement; cardiac and renal surveillance; fertility counseling
• 22q11.2 Deletion Syndrome (DiGeorge/VCFS) — Cardiac surgery coordination; immunological evaluation; calcium management; psychiatric surveillance; speech therapy
• Prader-Willi Syndrome — Growth hormone therapy; dietary management; behavioral support; pitolisant for excessive daytime sleepiness
• Angelman Syndrome — Seizure management; communication support; gene therapy clinical trials (GTX-102)
• Williams Syndrome — Cardiac surveillance (supravalvular aortic stenosis); hypercalcemia management; developmental support
• Fragile X Syndrome — FMR1 CGG repeat sizing; behavioral and educational intervention; metformin in trials
• Rett Syndrome — MECP2 mutation confirmation; trofinetide (Daybue); gene therapy trials
• CHARGE Syndrome — CHD7 mutation testing; multidisciplinary management of coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear anomalies

Inborn Errors of Metabolism

• Phenylketonuria (PKU) — Phenylalanine-restricted diet; sapropterin for BH4-responsive PKU; pegvaliase for adults
• Maple Syrup Urine Disease (MSUD) — Branched-chain amino acid-restricted diet; thiamine for thiamine-responsive MSUD; liver transplantation
• Organic Acidemias — MMA, PA, IVA; dietary management; carnitine; liver transplantation for MMA
• Urea Cycle Disorders — Protein restriction; nitrogen scavengers; liver transplantation; mRNA therapy (mRNA-3705 for OTC deficiency in trials)
• Fatty Acid Oxidation Disorders — MCAD, VLCAD, LCHAD; dietary management; carnitine; triheptanoin for LCHAD/TFP
• Glycogen Storage Diseases — GSD Ia (cornstarch therapy); GSD II/Pompe (alglucosidase alfa, avalglucosidase alfa); GSD III; GSD VI/IX
• Lysosomal Storage Diseases — Gaucher (imiglucerase, velaglucerase, eliglustat); Fabry (agalsidase, migalastat); MPS I/II/IVA/VI/VII (ERT); Niemann-Pick C (miglustat, arimoclomol); NCL (cerliponase alfa for CLN2)
• Peroxisomal Disorders — Zellweger spectrum; X-linked adrenoleukodystrophy (Lorenzo's oil; hematopoietic stem cell transplantation; gene therapy — elivaldogene autotemcel)
• Congenital Disorders of Glycosylation — PMM2-CDG and other CDG subtypes; mannose supplementation for MPI-CDG
• Biotinidase & Holocarboxylase Synthetase Deficiency — Biotin supplementation
• Homocystinuria — Pyridoxine; methionine-restricted diet; betaine; cysteine supplementation

Connective Tissue & Skeletal Disorders

• Marfan Syndrome — FBN1 mutation testing; losartan and beta-blockers; aortic root surveillance; prophylactic aortic surgery coordination
• Ehlers-Danlos Syndrome — Genetic subtyping (COL5A1/2 for classical; COL3A1 for vascular EDS); multidisciplinary management; vascular surveillance for vEDS
• Osteogenesis Imperfecta — COL1A1/COL1A2 and other OI gene testing; bisphosphonate therapy; setrusumab in trials; orthopedic coordination
• Achondroplasia — FGFR3 p.G380R confirmation; vosoritide; limb lengthening coordination
• Hypophosphatasia — ALPL mutation testing; asfotase alfa (enzyme replacement therapy)
• Mucopolysaccharidoses (MPS) — MPS I (laronidase); MPS II (idursulfase, pabinafusp alfa for CNS involvement); MPS IVA (elosulfase alfa); MPS VI (galsulfase); MPS VII (vestronidase alfa); hematopoietic stem cell transplantation for MPS I

Neurodevelopmental & Neurogenetic Disorders

• Intellectual Disability — Genetic Causes — Chromosomal microarray; WES/WGS trio; FMRP testing; targeted gene testing based on phenotype
• Autism Spectrum Disorder — Genetic Evaluation — CMA; WES for syndromic ASD; SHANK3, PTEN, TSC1/2, CHD8, ADNP, and other ASD-associated genes
• Leukodystrophies — Metachromatic leukodystrophy (arylsulfatase A gene therapy — atidarsagene autotemcel); Krabbe disease (HSCT); X-ALD (gene therapy); Canavan disease; Alexander disease
• Neuronal Ceroid Lipofuscinoses — CLN2 (cerliponase alfa intrathecal enzyme replacement); CLN3, CLN6, CLN7 supportive care
• Hereditary Spastic Paraplegia — SPG gene panel; physiotherapy; baclofen
• Ataxias — Friedreich ataxia (omaveloxolone); ataxia-telangiectasia; spinocerebellar ataxias

Immunodeficiency & Autoinflammatory Diseases

• Primary Immunodeficiency Diseases (PID) — SCID (gene therapy — OTL-101 for ADA-SCID; HSCT); WAS (gene therapy — OTL-103; HSCT); CGD (HSCT; gene therapy); XLA (IVIG); CVID (IVIG/SCIG)
• Autoinflammatory Diseases — FMF (colchicine; canakinumab); CAPS (canakinumab, rilonacept); TRAPS (canakinumab, etanercept); PFAPA; MKD; NLRP3-related diseases
• Hemophagocytic Lymphohistiocytosis (HLH) — Primary HLH (PRF1, UNC13D, STX11): emapalumab; HSCT; secondary HLH management

Undiagnosed Rare Disease Program

FUCH's undiagnosed rare disease program is one of the most comprehensive in China, providing systematic evaluation for children with complex multi-system conditions that have not received a diagnosis despite prior evaluation:

• Systematic Phenotyping — Detailed clinical assessment by clinical geneticist; HPO (Human Phenotype Ontology) coding for computational phenotype matching
• Tiered Genomic Testing — CMA → WES trio → WGS → RNA-seq → multi-omics for progressive diagnostic workup
• Functional Studies — Cell-based functional assays for VUS validation; protein studies; animal model data review
• International Collaboration — Matchmaker Exchange and GeneMatcher for identification of additional patients with the same rare gene; international rare disease consortia
• Novel Gene Discovery — Research-grade analysis for potential novel disease gene identification; IRB-approved research protocols

Gene Therapy Access

FUCH is one of China's most active centers for gene therapy clinical trials and approved gene therapies for rare diseases:

• Onasemnogene abeparvovec (Zolgensma) for SMA type 1
• Elivaldogene autotemcel for X-linked adrenoleukodystrophy
• Atidarsagene autotemcel for metachromatic leukodystrophy
• OTL-101 for ADA-SCID
• GTX-102 for Angelman syndrome (clinical trial)
• MECP2 gene therapy for Rett syndrome (clinical trial)
• Gene therapy for hemophilia A and B

Why International Families Choose FUCH Rare & Genetic Diseases

• Advanced Genomic Diagnostics — WES/WGS trio, RNA-seq, and multi-omics for the most challenging undiagnosed cases
• Undiagnosed Disease Program — Systematic tiered approach for children who have not received a diagnosis elsewhere
• Gene Therapy Access — One of China's most active centers for approved and investigational gene therapies for rare diseases
• Metabolic Disease Expertise — Comprehensive enzyme replacement therapy, dietary management, and HSCT for lysosomal storage and other metabolic diseases
• Multidisciplinary Integration — Seamless collaboration with all pediatric subspecialties for complex multi-system rare diseases
• Cost-Effectiveness — World-class rare disease diagnosis and management at significantly lower cost than equivalent care in Western countries

The CMCS Patient Journey

1. Initial Inquiry — Share your child's clinical history, prior genetic testing results, metabolic workup, imaging, and specialist reports with CMCS.
2. Medical Record Preparation — We translate and organize your child's records for specialist pre-consultation review.
3. Specialist Matching — We identify the most appropriate clinical geneticist or metabolic disease specialist based on your child's phenotype and prior workup.
4. Priority Scheduling — We secure a consultation with minimal waiting time.
5. Travel & Logistics — Assistance with visa invitation letters, family accommodation near FUCH, and Shanghai airport transfers.
6. Diagnostic Coordination — Full coordination of genomic testing (CMA, WES, WGS, RNA-seq), metabolic studies, enzyme assays, and functional studies.
7. Results Interpretation — Genetic report translation and plain-language explanation of findings; variant of uncertain significance (VUS) counseling.
8. Long-Term Management — Treatment plan coordination, gene therapy trial enrollment, and remote follow-up after you return home.

Book a Consultation

If your child has an undiagnosed rare disease, a suspected genetic syndrome, an inborn error of metabolism, or a complex multi-system condition — CMCS can arrange a specialist consultation with FUCH's rare and genetic diseases team in Shanghai.

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