Consultant Paediatric Metabolic Geneticist

Job Snapshot

Consultant Paediatric Metabolic Geneticist – Dubai, United Arab Emirates – Full-time – Hospital & Health Care

Experience: Minimum 5-7 years post-board consultant experience in pediatric metabolic genetics.

Key Responsibilities

• Diagnose and manage inherited metabolic disorders and pediatric genetic conditions affecting infants, children, and adolescents.
• Evaluate patients with suspected metabolic disease, rare genetic syndromes, developmental delay, neuromuscular symptoms, unexplained biochemical abnormalities, and complex pediatric presentations.
• Interpret metabolic, biochemical, molecular, genomic, and genetic investigations, including newborn screening results and specialized laboratory findings.
• Develop individualized treatment plans and long‑term management pathways for patients with metabolic and genetic disorders.
• Provide inpatient and outpatient consultations for pediatric metabolic genetics cases, including urgent reviews, chronic follow‑up, and complex multidisciplinary referrals.
• Participate in newborn screening programs, early detection pathways, metabolic emergency response, and time‑sensitive treatment planning.
• Manage metabolic emergencies with appropriate escalation, biochemical monitoring, dietary guidance, medication planning, and multidisciplinary coordination.
• Collaborate with neonatologists, pediatric neurologists, dietitians, genetic counselors, laboratory specialists, nurses, pharmacists, and other healthcare professionals.
• Provide clear counseling and education to patients and families regarding diagnosis, inheritance patterns, treatment options, prognosis, recurrence risk, lifestyle needs, and long‑term care.
• Support rare disease and genomic medicine pathways where available, ensuring accurate interpretation and clinically responsible use of genetic information.
• Maintain accurate consultation notes, genetic counseling records, investigation reviews, treatment plans, emergency protocols, and follow‑up documentation in compliance with DOH regulations and hospital policies.
• Participate in research, clinical audits, teaching, continuing medical education, quality improvement programs, and academic activities related to pediatric metabolic genetics.
• Stay updated with advances in metabolic medicine, clinical genetics, genomic medicine, newborn screening, rare disease care, and evidence‑based pediatric practice.

Ideal Profile

• MBBS or equivalent medical degree recognized by DOH Abu Dhabi.
• Board certification, fellowship, or equivalent specialist qualification in Paediatric Metabolic Genetics, Clinical Genetics, or Metabolic Medicine.
• Valid DOH Consultant License or Eligibility Letter in the relevant specialty is required for the actual work location.
• Minimum 5-7 years of post‑board consultant experience in pediatric metabolic genetics within a tertiary care or academic hospital.
• Strong expertise in inherited metabolic disorders, pediatric genetic diseases, rare syndromes, metabolic emergencies, newborn screening, and long‑term care planning.
• Experienced in interpreting biochemical, metabolic, molecular, genomic, and genetic investigations.
• Exposure to rare disease programs and genomic medicine is preferred.
• Experience in newborn screening and metabolic emergency protocols is strongly valued.
• Research publications, teaching experience, clinical audit work, or academic involvement is an advantage.
• Excellent analytical, communication, counseling, and multidisciplinary teamwork skills.
• Able to work effectively in a multicultural healthcare environment with empathy, precision, confidentiality, and strong ethical judgment.

Skills Set

• Paediatric metabolic genetics
• Pediatric metabolic disorders
• Clinical genetics
• Metabolic medicine
• Inherited metabolic disorders
• Pediatric genetic diseases
• Rare genetic syndromes
• Newborn screening
• Metabolic emergency management
• Developmental delay assessment
• Neuromuscular disorder evaluation
• Biochemical investigation interpretation
• Genetic investigation interpretation
• Molecular testing review
• Genomic medicine
• Rare disease programs
• Pediatric inpatient consultation
• Pediatric outpatient consultation
• Long‑term care planning
• Family genetic counseling
• Inheritance pattern counseling
• Neonatology collaboration
• Pediatric neurology collaboration
• Dietitian coordination
• Genetic counselor collaboration
• Laboratory specialist coordination
• DOH licensing eligibility
• Clinical documentation
• Clinical audits
• Research and teaching
• Continuing Medical Education

Benefits

• Competitive tax‑free salary (75,000–100,000 AED)
• Family benefits
• Health insurance
• Annual airfare allowance
• Paid annual leave
• CME support
• Professional development opportunities in a highly specialized medical field

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