Pakistan can be a hub for clinical trials in rare diseases as we have
pathology, human resource and motivation – Huma Arshad Cheema
Diagnosis and management of rare diseases is a
difficulty journey and daunting task – Prof. Sajid Maqbool
Proceedings of First Rare and Genetic Diseases Summit 2025
LAHORE: Prof. Sajid Maqbool an eminent pediatrician and former chief of Children Hospital Lahore who is also patron of the SNARE was the chief guest in the inaugural session of First Rare and Genetic Diseases Summit 2025 held here from September 4th-6th 2025.
Prof. Moazur Rahman along with Prof. Salman Kirmani and Prof. Azizur Rehman chairing one of the scientific sessions during the First Rare and Genetic Diseases conference held at Lahore from September 4-6th, 2025.
Addressing the participants, he pointed out that there are only a few moments in your life when you feel proud and this was just one of them. If I look back in my professional career, I have not accomplished much. Management of rare and genetic diseases, he stated, is a difficult journey and a daunting task. It is heartening to note that we have with passion, drive and enthusiasm to carry this movement forward. It is also gratifying to note that various universities from all over Pakistan are interested to collaborate. It is well for this society to take this movement forward, he added.
Prof. Huma Arshad Cheema a distinguished researcher from Children Hospital in her address stated that rare diseases are real and it was a silent epidemic. Quoting a philosopher, it was stated that “the one who inspires Hope in the society is the best physician”. Speaking about the global perspective of rare diseases, consanguinity, she said, was a major problem and it results in 50% mortality due to genetic disorders. We have very high under five and genetic diseases mortality. There is extremely low awareness even in the medical profession. According to estimates about sixteen million people suffer from genetic diseases in Pakistan. These diseases are poorly understood and diagnosed. They are frequently missed. We are establishing a Centre for Rare Diseases at Children Hospital. Access to diagnosis is the first step after awareness. These diseases lead to financial and emotional toll of families with long diagnostic journey. Boston Hospital for sick children provided us help for research, she added.
Prof. Huma Arshad Cheema further stated that Rare Diseases Centre at Children Hospital can be used as model from diagnosis to treatment. DRAP and pharma industry should get together. She also referred to the pain and significant unmet needs. Pakistan, she said, can be a hub for clinical trials in rare diseases. We have the pathology and human resource as well as motivation, she concluded.
Prof. Javed Akram President SNARE, Prof. Huma Arshad Cheema, Prof. Shahid Mahmud Baig, Prof. Sajid Maqbool, Prof. Aftab Mohsin, Prof. Masood Hameed Khan and some other distinguished participants photographed during the First Rare and Genetic Diseases conference held at Lahore recently.
Prof. Masood Sadiq Vice Chancellor of University of Child Health and Senior Vice President of SNARE in his address stated that there are about seven million children suffering from rare diseases and there is not a single center except the one we are establishing at Children Hospital Lahore. There are no diagnostic facilities free of cost. We have partners from overseas for help. In the absence of such centers who is going to manage these children he asked? About 50% mortality is related to genetic diseases. He suggested that all Vice Chancellors should collaborate as we need regional centers for rare diseases in all the provinces.
Prof. Javed Akram President of SNARE in his address talked about a rare Medical Miracle and referred to the management of Solar Kids he was able to diagnose and treat. Unfortunately, some people develop obstructive attitude. Diagnosing rare disease remains a challenge for practicing physicians. These kids from Baluchistan were diagnosed to be suffering from Nocturnal Paralysis. They were shifted to PIMS. Clinical workup was done. This family had multiple siblings. He also discussed the differential diagnosis in detail.
Prof. Ziaul Haque Vice Chancellor of Khyber Medical University, Prof. Muhammad Ali Vice Chancellor of Punjab University also briefly addressed the meeting. Prof. Muhammad Ali entertained the audience with the Kalam of famous Saints like Sultan Bahu as well to convey the message of love for humanity. Prof. Ahsan Waheed Rathore Vice Chancellor of University of Health Sciences also shared his views on the prevailing situation and how the medical universities and other institutions can collaborate and move forward.
Prof. Shabbir Ahmed Lehri Vice Chancellor Bolan University of Medical & Health Sciences was critical at lack of resources and financial allocations for research. Without funding no research, he said, was possible. What to talk of rare diseases we cannot effectively manage common diseases. There is no liaison of physicians with the patients. He also criticized the appointment of a retired Supreme Court Judge as President of Pakistan Medical & Dental Council few years ago and said that will someone appoint me a doctor and professor as Judge of the Supreme Court. We need to build our institutions and promote research culture. Research, he further stated, needs to be included in our undergraduate curriculum. Let us be honest otherwise we cannot move forward, he remarked.
Prof. Moazur Rehman from Centre of Excellence in Molecular Biology Lahore gave details of more than sixty patients suffering from genetic disorders. We at the CEMB wish to start PhD programme at Punjab University, he added.
Fellowship Convocation
Five eminent scientists and distinguished physicians were later awarded Honorary Fellowship of SNARE. Those honoured included Prof. Masood Hameed Khan former Founder Vice Chancellor of DUHS Karachi, late Prof. Riazuddin Sheikh, Prof. Sajid Maqbool, Prof. Huma Arshad Cheema, Prof. Shahid Mahmood Baig currently Dean of Life Sciences at Health Services Academy Islamabad and Prof. Arndt Rolfs from Germany. Earlier Prof. Aftab Mohsin Chairman of the organizing committee welcomed the guests and participants to the conference.
