Reframe Rare in Pakistan: Breaking Silos and Bringing Synergies

Multidisciplinary Conference on Rare Genetic Diseases in Pakistan

March 4-7, 2020

Medical College

World Rare Disease Day is an observance held on the last day of February to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families. In line with this, Department of Pathology and Laboratory Medicine in collaboration with Division of Women & Child Health, the Aga Khan University (AKU), has planned a 4 day conference from 4-7 March, 2020. The focus of our efforts is on bridging the gap between the different stakeholders in healthcare through education and engage them in dialogue for advocacy and health system reforms.  

The conference will bring together genetic researchers, pathologists and child health specialists from public and private sector organizations across the country at one platform. The conference program is focused at outcome and challenges in management of Inherited metabolic disorders, newborn screening, rare disorders case presentations and good laboratory practices alongside the ethical challenges. Furthermore, international experts form USA, Italy and New Zealand will also address the symposia and facilitate workshops to train the local work force aimed at establishment of Newborn Screening in the country.

This conference provides the opportunity to interact closely with course presenters and faculty who are national and international leaders in their respective fields. As an attendee, you can expect to learn about the latest updates in research, innovation and clinical care of rare diseases including inherited metabolic disorders.

  • Hands-on workshops
  • Essentials of establishing newborn screening 
  • Opportunities for networking and collaboration
  • Complex clinical cases
  • Research discussions
  • Good laboratory practices
  • Advocacy and debates 
  • Poster presentations
  • Bioinformatics hands-on on Inherited Metabolic Disorders (IMDs) genomics (3 credits)
  • Introduction to Genetic Counselling (3 credits)
  • Establishing Registry for Rare Diseases at AKU (3 credits)
* Limited seats are available for workshops. Registrations will be made on a first-come, first-serve basis.

Who should attend
  • General physicians
  • Pathologists 
  • Gynaecologists
  • Paediatricians 
  • Geneticists
  • Postgraduate trainees  
  • Allied health professionals
  • Pharmacists
  • Laboratory scientists/officials
  • Government policy makers
  • Social workers
  • Educationists

Department of Pathology and Laboratory Medicine in collaboration with Division of Women & Child Health, AKU

Image credit:



  • AKU Auditorium (Symposia)
  • Anatomy and Surgery Learning Studio and Hospital Office Building Conference Room (Workshops and meetings)

Consultant: PKR 3000
Trainees/Residents: PKR 1500


Shamsha Punjwani
021 3486 4547

Mahek Ali
021 3486 4513

Conference Secretariat
+92 21 3486 4578/4584