Consultant Pediatric Metabolic Genetics - Rare Disease

Allocation Assist Middle East; Al Ain; On-site; AED 65,000 - 90,000; Full time

Benefits offered by this job

Health insurance

Annual airfare allowance

Paid annual leave

Professional development support

Family benefits

Job summary

Allocation Assist Middle East invites an experienced Consultant Pediatric Metabolic Genetics physician to join a leading UAE healthcare facility in Al Ain. The role combines inpatient and outpatient pediatric metabolic consultations, newborn screening interpretation, and long-term multidisciplinary management for complex inherited disorders.

The successful candidate will diagnose, manage, and guide families through metabolic conditions, with opportunities for research, teaching, and

Qualifications

• MBBS or equivalent medical degree recognized by DOH Abu Dhabi with Board Certification or Fellowship training in Paediatric Metabolic Genetics or Clinical Genetics.
• Minimum 5-7 years post-board consultant experience in pediatric metabolic genetics within a tertiary care or academic hospital.
• Strong expertise in inherited metabolic diseases, newborn screening, and long-term disease management.

Responsibilities

• Diagnose and manage inherited metabolic diseases and genetic disorders in pediatric patients.
• Interpret biochemical investigations and correlate with clinical findings.
• Review molecular/genetic testing results and integrate into management plans.
• Coordinate newborn screening processes and confirmatory investigations when needed.
• Develop individualized treatment strategies including dietary modifications and metabolic therapies.
• Provide emergency metabolic management and inpatient/outpatient consultation as required.
• Counsel families regarding diagnosis, prognosis, inheritance, and long-term care.

Skills

Pediatric metabolic genetics

Inherited metabolic disorders

Clinical genetics

Metabolic medicine

Rare genetic diseases

Newborn screening

Metabolic emergency management

Biochemical diagnostics

Genetic testing interpretation

Genomic medicine

Education

MBBS or equivalent medical degree with Board Certification in Paediatric Metabolic Genetics/Clinical Genetics

Job description

Consultant Pediatric Metabolic Genetics - Rare Disease Job Snapshot

Role: Consultant Pediatric Metabolic Genetics - Rare Disease

Location: Al Ain, United Arab Emirates

Industry: Medical Practice

Function: Physician

Experience: Minimum 5-7 years post-board consultant experience

Job Type: Full-time Position Overview

Consultant Pediatric Metabolic Genetics - Rare Disease in Al Ain, United Arab Emirates is a senior Medical Practice opportunity for an experienced physician specializing in inherited metabolic disorders, pediatric genetic diseases, newborn screening, rare conditions, and long-term multidisciplinary care.

Allocation Assist Middle East is hiring for a leading healthcare facility seeking a consultant who can diagnose complex metabolic and genetic conditions, interpret advanced biochemical and genomic investigations, and guide families through individualized treatment and lifelong disease management.

The role combines inpatient and outpatient consultation, metabolic emergency management, newborn screening, diagnostic interpretation, family counselling, nutritional coordination, and collaboration across multiple pediatric specialties.

Job Details

Country: United Arab Emirates

City: Al Ain

Industry: Medical Practice

Function: Physician

Salary: 65000-90000 Estimated salary range based on similar jobs in the job city; please confirm the final offer with the employer.

Gender: Any

Candidate Nationality: Any

Job Type: Full-time

Role Context

The Consultant Pediatric Metabolic Genetics specialist will manage infants, children, and adolescents with confirmed or suspected inherited metabolic and genetic disorders. Many patients will require detailed diagnostic investigation, specialized nutritional or pharmacological treatment, emergency planning, and long-term monitoring across different stages of childhood. The consultant will work closely with neonatologists, pediatric neurologists, dietitians, genetic counselors, laboratory specialists, pharmacists, and other pediatric teams. This coordinated approach will support earlier diagnosis, prevention of metabolic deterioration, improved developmental outcomes, and informed decision-making for families affected by rare genetic disease.

Key Responsibilities

• Diagnose and manage inherited metabolic diseases and genetic disorders affecting pediatric patients.
• Evaluate infants and children presenting with developmental delay, unexplained neurological symptoms, metabolic abnormalities, growth concerns, or suspected rare genetic syndromes.
• Investigate neuromuscular presentations where an inherited metabolic or genetic cause is suspected.
• Interpret biochemical investigations used in the diagnosis and monitoring of metabolic disorders.
• Review molecular and genetic testing results and incorporate findings into clinical management plans.
• Assess newborn screening results and arrange timely confirmatory investigations when abnormalities are identified.
• Develop individualized treatment strategies based on diagnosis, metabolic pathway, disease severity, developmental status, and long-term clinical needs.
• Provide specialist management for children requiring dietary modification, metabolic supplementation, medication, or other targeted therapies.
• Establish emergency treatment plans for patients at risk of metabolic decompensation during illness, fasting, surgery, or other physiological stress.
• Provide urgent consultant input for metabolic emergencies involving hypoglycemia, hyperammonemia, acidosis, or other serious biochemical disturbances.
• Conduct inpatient consultations for children requiring acute metabolic assessment or complex multidisciplinary management.
• Provide structured outpatient follow-up for patients living with chronic inherited metabolic and genetic conditions.
• Participate in newborn screening pathways and contribute specialist interpretation where metabolic disease is suspected.
• Coordinate nutritional treatment with pediatric dietitians and monitor growth, biochemical control, and treatment adherence.
• Collaborate with pediatric neurology, neonatology, laboratory medicine, genetics, and other specialties when cases involve multiple organ systems.
• Counsel families regarding diagnosis, prognosis, inheritance patterns, recurrence considerations, treatment options, and long-term care requirements.
• Support families managing rare diseases through clear communication and realistic guidance regarding ongoing monitoring and treatment.
• Maintain accurate clinical records in accordance with DOH regulations and hospital requirements.
• Participate in clinical audits, research projects, academic teaching, case discussions, and continuing medical education.
• Contribute to rare disease programs, genomic medicine initiatives, and quality improvement activities where appropriate.
• Maintain current knowledge of emerging diagnostic technologies and therapeutic advances in metabolic and genomic medicine.

Ideal Profile

The successful candidate will hold an MBBS or equivalent medical degree recognized by DOH Abu Dhabi together with Board Certification or Fellowship training in Paediatric Metabolic Genetics, Clinical Genetics, Metabolic Medicine, or another relevant recognized specialty pathway. A valid DOH Consultant License or appropriate Eligibility Letter in the relevant specialty is required. Candidates should bring at least 5-7 years of post-board consultant experience in pediatric metabolic genetics within a tertiary care, specialist children 's, or academic hospital. Strong expertise in inherited metabolic diseases, rare pediatric genetic disorders, newborn screening, biochemical diagnostics, and long-term disease management is essential. Experience with metabolic emergency protocols, genomic medicine, multidisciplinary rare disease services, clinical research, academic teaching, or published scientific work will provide additional value.

Skills Set

• Pediatric metabolic genetics
• Inherited metabolic disorders
• Clinical genetics
• Metabolic medicine
• Rare genetic diseases
• Newborn screening
• Metabolic emergency management
• Biochemical diagnostics
• Genetic testing interpretation
• Genomic medicine
• Developmental delay assessment
• Neuromuscular disorder evaluation
• Rare disease management
• Inborn errors of metabolism
• Metabolic treatment planning
• Nutritional management
• Long-term metabolic monitoring
• Pediatric inpatient consultation
• Pediatric outpatient care
• Family genetic counselling
• Inheritance counselling
• Multidisciplinary pediatric care
• Laboratory interpretation
• Emergency metabolic protocols
• Clinical documentation
• DOH regulatory compliance
• Clinical audit
• Medical research
• Academic medicine
• Clinical teaching
• Continuing medical education
• Quality improvement

Why Join Us

This Al Ain opportunity offers an experienced pediatric metabolic genetics physician the chance to work with complex inherited disorders, rare diseases, newborn screening cases, and metabolic emergencies within an advanced healthcare environment. The position provides professionally valuable exposure to genomic medicine, biochemical diagnostics, multidisciplinary pediatric care, and evolving treatment approaches for uncommon disorders. The role also creates opportunities to contribute to research, teaching, rare disease programs, quality initiatives, and continuing medical education. A competitive tax‑free salary, family benefits, health insurance, annual airfare allowance, paid annual leave, and professional development support form part of the employment package.

About the Company

Allocation Assist Middle East supports hospitals and specialist healthcare organizations across the UAE and wider Middle East with recruitment for consultant and specialist physician positions. The company connects experienced medical professionals with advanced clinical opportunities across pediatrics, genetics, rare diseases, surgery, and other highly specialized healthcare disciplines.