Dow University of Health Sciences(DUHS) in collaboration with Pediatric Department, Civil Hospital Karachi (CHK) and Pakistan Pediatric Association(PPA) organized 2-days First national Conference on “Genetic, Metabolic and Chromosomal Disorders” at Dow Medical College. The theme of the conference is “Making the voice of rare diseases heard”.
The Conference was inaugurated by Medical Superintendent, CHK Dr. Jameel Siddiqui, who applauded the efforts of organizing the first of its kind conference or genetic and metabolic disorders.
Vice Chancellor of DUHS, Prof. Masood Hameed Khan inaugurated the poster competition. In his speech he lauded the efforts of the organizers in organizing the conference on a much needed and neglected topic. Prof Junaid Ashraf also appreciated the department of Pediatrics, department of Neurology, CHK and PPA in their collaborative efforts.
The First Day of the Conference started with two scientific sessions. The first session was on “Hemoglobinopathies (disorders of blood formation) moderated by Prof Fehmina Arif. Speakers included Dr. Adil Akhter and Prof Aisha Mehnaz delivered talk on “Challenges in the management of Thalassemia (very common hemoglobinopathy in Pakistan) and prevention of Thalassemia. This was followed by panel discussion where Dr. Tahir Shamsi of NIBD and Dr. Bushra Rafique joined the discussion and shared their experience.
The second session was comprised on Neuro-Metabloic disorders chromosomal disorders. Another common metabolic disorders causing crippling disease in large population in Pakistan. The session was moderated by Prof. Saleem Ilyas. The speakers included Dr. Naila Shahbaz and Dr. Muhamaad Wassey who presented paper on ‘Neurologial presentation of neuro-Metabolic disorders and “Mitochondrial diseases “. This was followed by panel discussion in which Dr Waseem Akhter and Dr Ahmed Asif joined in. Interesting discussion followed.
The Second day first session was on “Lysosomal Storage Disorders” (LSD). Prof. Aisha Mehnaz brief the audience that Lysosomal Storage Disorder also called LSD was once upon a time considered a rare disease in Pakistan is unfortunately no longer a RARE disease. The incidence of this disease is drastically increasing with every passing day. She said that these so called rare disease disorder comes with extra constraints in terms of lack of awareness amongst the masses, low awareness even amongst doctors and non-availability of effective treatments.
Giving an overview on rare diseases, Prof Ayesha Mehnaz, said that there are over 40 types of LSDs and the estimated combined incidence of all Lysosomal storage disorders is about 1 in 5,000 live births. However the incidence of each of the different diseases can range from 1 in 40,000 up to 1 in 2,000,000. Whereas in Pakistan over 150 cases have been diagnosed in 2 years, which is not considered to be as rare as the global data. The reason could be the higher frequency of consanguineous marriages in many communities.”
Speaking on the occasion Dr. Shabbir Mallick, a consultant on Metabolic Disorder at OMAN, UAE shared his experience . In his talk on “Screening and Diagnosis of LSD” he said that awareness and the availability of proper health services vary extensively in different regions globally. Metropolitan cities are still doing well, as awareness is present. Expecting parents should be suggested prenatal diagnosis in order to prevent the recurrence of the disease.”
Prof. Gen. Suleiman Ali in his plenary talk on ‘Challenges in the management of LSD” said that although rare diseases have limited treatment options, a few of the LSDs are now treatable with enzyme replacement therapies. His talk was followed by panel discussion , in which Dr. Arit Parkash and Dr. Fareeduddin joined in and shared their experiences. Some patients of LSDs also shared their experience during the session.
The second session was on “Genetic and Chromosomal Disorders “which is nether are nor uncommon disorders This session was moderated by Prof. Ghulam Murtaza. The speakers includes Dr. Salman Kiramani and Prof. Shazia Maqbool who spoke on “Approaching children with genetic disorders” and “habilitation of syndromic child” respectively. Dr. Kamran Azim of HEJ.KU and Prof. Jamal Ara participated in the discussion as panelist and shared their experience.
The third and the last session was on “Protein metabolic disorders” moderated by Dr. Ammarah Jamal. The speakers in this session included Dr. Bushra Afroz who gave talk on Challenges in the management of “Protein metabolic disorders” and Prof. Jamal Raza delivered talk on “Genetic causes of obesity in Pakistani children”. Dr. Ayesha Habib and Prof. Mumtaz Lakhani were the panelist.
In the end, the recommendations arises from the conference which was presented by Prof Aisha Mehnaz.
Leading Pediatrician and subject specialists presented their research papers on rare genetic diseases and discussed newer diagnostic and therapeutic modalities. The conference was an interesting blend of state of art lectures, panel discussion, medical quiz and question /answer session an poster competition.
