Human resource capacity is important for any
screening programme – Aysha Habib Khan
SNARE SUMMIT 2025
LAHORE: Prof. Arndt Rolfs from Germany was the first speaker in the Plenary Session during the Rare and Genetic Diseases Summit on September 5th 2025. The session was chaired by Prof. Tahir Masood along with Prof. Azizur Rehman and Prof. Salman Kirmani. The topic of his presentation was “The Genetic Revolution Practical application for Physicians”. He discussed in detail the GBA related Parkinson’s Disease, Sidransky syndrome, Defects in Gaucher disease which he opined was a protein misfolding disorder. All these are very rare and very common genes. He then shared the results of various studies related to Gautier’s disease and also highlighted the role of Ambroxol in neuropathic. Some of these studies, he opined, can only be done in Pakistan.
Prof. Shahid Mahmud Baig, Prof. Aftab Mohsin and Prof. Moazur Rahman
photographed during the First Rare and Genetic Diseases conference.
Prof. Henry Houlden Prof. of Neurology from University College London spoke about new technology to identify the genetic causes of unresolved neurological and developmental disorders. He referred to the UK One hundred thousand Gene project of 2013 and highlighted the various genetic causes. Loss of function, he said, leads to reduction of GAP activity. He also discussed the differential diagnosis of Genetic Chorea. He then discussed Synaptopaty – disease of brain and spinal cord in peripheral nervous system. He also showed some informative slides of Oculo Pharyngeal Distal Myopathy (OPDM). He then discussed treatment of dystonia, movement disorders and mentioned about genetic and advocacy. Speaking about MTPS deficiency and SR deficiency Prof. Houlden remarked that many genetic causes are still to be found. He also highlighted the practical issues in genetics and familial AS.
Dr. Sadia Saeed from Imperial College London made a presentation on “Genetic insights and precision solutions for treating children living with rare severe obesity in Pakistan”. She discussed the biology of eating behaviors. Abundance of food and lack of activity has made obesity a great challenge. She also talked about genetic architecture of obesity and shared the details of a study which included seven hundred children who were born with normal body weight. She concluded her presentation by stating that we have identified normal genes and new pharmacological targets. Precision diagnosis is essential. Therapies exist but remain out of reach. Family counselling is crucial, she added. Prof. Jamal Raza commenting on her presentation stated that we have to raise our voice, advocate for policy.
First Scientific Session
Prof. Masood Sadiq Vice Chancellor of University of Child Health was the first speaker in the first scientific session which was jointly chaired by Prof. Jamal Raza and other distinguished chairpersons. The topic of his presentation was “The Heart of the Matter – Genetic Cardiomyopathies in Pakistan.” He discussed in detail the classification of genetic cardiomyopathy. In acute myocarditis there is increased risk of early death by 21%. She then referred to juvenile sudden death and diagnostic pathways for sequencing. Early diagnosis, she opined, save lives. She suggested that it is much better to start with developmental registry, follow family centered approach. Commenting on the presentation Prof. Arndt Rolfs emphasized the importance of genetic testing.
Dr. Babar Saeed, Prof. Masood Sadiq and Prof. Huma Arshad Cheema photographed during the First Rare and Genetic Diseases conference.
Prof. Aysha Habib Khan from Aga Khan University spoke about “Transforming healthcare through Metabolomics in inherited metabolic disorders- Impact on diagnosis, Clinical understanding, Care and Research”. She discussed the case history of a five-day neonate who was admitted to ICU with respiratory distress. She then shared the data of eighty-one cases seen during one year and during the last five years looked at 1866 cases after setting up of their laboratory. We launched the RARE Registry in 2023. At the Biogenetic Laboratory we were able to identify five main disorders. Ten conditions accounted for 60% of the cases. There is a high prevalence of these conditions. These patients, she said, could have been saved if early diagnosis was made. This is a valuable local model. Human resource capacity, she remarked, is important for any screening programme. She then referred to Pak- IMD Group. We need to generate data, synthesize it, improve healthcare and go for a National Health Policy.
Prof. Shahid Mahmood Baig Dean Life Sciences at Health Services Academy from Islamabad discussed prevention of genetic diseases in Pakistan. Pakistan’s population, he said, was growing at 2% which needs to be checked. We have 70% cousin marriages and it accounts of over 50% in all the Muslim World but in Pakistan it accounts for 70%. Saudi Arabia is at No. 2 in cousin marriages. Genomics is a very low priority in Pakistan. We have acute shortage of clinical genetics. The perception is that it is expensive science. He then highlighted the work he was able to accomplish at NIBGE another Centre of Excellence in Faisalabad where a Human Genetic Molecular Laboratory was established. Affected families were identified for sample trials. Speaking about the development of brain, he said the size of human brain is much bigger than all other creatures including animals. He then spoke about neurodevelopmental disorders and shared the details of eight hundred sixty patients. Data about three hundred forty families was also shared. It included thirty-four with intellectual disability. He also talked about limb deformities, profound bilateral hearing impairment and brain tumors. We introduced genomics to hospital clinical set up. Establishment of Centre of Excellence for Genomics at Children Hospital Lahore is a dream come true, he remarked.
Ms Volha Skahina was the next speaker in this session who discussed Gene Therapy. She disclosed that so far FDA has approved thirty-three Gene therapies. She also discussed the replacement of diseased gene with healthy copy of Gene. It was in 1990 that we had the first success story with Gene therapy. She also talked about spinal muscular atrophy.
