Phenotype

Dr. Campbell, Andrew

University of Michigan, Michigan, United States of America.

Dr. Campbell is a graduate of Case Western Reserve School of Medicine and completed his residency training at Harvard Affiliated Massachusetts General Hospital in Boston followed by PediatricHematology/Oncology Fellowship at Northwestern University. He is currently Assistant Professor of Pediatrics at the University of Michigan. He directs the Comprehensive PediatricHemoglobinopathies Program which includes the Pediatric Sickle Cell and Thalassemia clinic at the University of Michigan. He has served on multiple NIH Scientific Boards including the National SIT Trial and the Baby Hydroxyurea Study. He is on the National Advisory Board for Blood and Stem Cell Transplantation appointed by the Dept. of Human and Health Services (HHS).

He has recently joined the H3Africa Renal Cohort with a special interest in investigating the impact of genetic risk factors such as APOL1 in development of renal disease in patients with sickle cell trait and disease.

He is also Clinical Adjunct Professor in the Department of African Studies and a Faculty Associate for Global Reach Program at the University of Michigan. He is Co-Investigator of the NIH-Fogarty Funded Minority International Health Research Training Program (MHIRT) where his research has focused on investigating the sickle cell phenotype in the Ghanaian sickle cell patients. For the past several years he has focused his research in understanding the varied phenotypic expression of SCD in different populations through multinational CASiRe (Consortium for the Advancement of Sickle Cell Disease Research) International Consortium which he directs including — 1) Europe- Italy (University of Padova, University of Naples), and UK (Guys St Thomas) 2) North America- USA (University of Michigan, University of Toledo-Promedica Toledo Children’s Hospital, University of Illinois Chicago, University of  Connecticut,  Albert Einstein-Montefiore,  Case Medical Center-Rainbow Children’s, Vanderbilt University),  and 3) Africa- Ghana (Korle Bu Teaching Hospital). The focus of the CASIRE Sickle Cell Research is the “CASIRE Renal Cohort Study” where we are describing the risk factors associated with proteinuria in different SCD populations within different ethnic groups including people of African, Caribbean, Arab, American, and European descent. We are also studying the role of the environment on the phenotype of Sickle cell disease.


Dr. Chinenere, Furahini

Muhimbili Hematology Program, Dar es Salaam, Tanzania.

I am a Medical Doctor with 19 years of work experience. I am a holder of a medical degree (MD) and Master of Public Health (MPH) from Muhimbili University College of Allied Sciences (MUHAS), (1996 and 2014 respectfully). I have previously worked as a medical doctor in Tanzania and Zimbabwe in different capacities and at different hospitals/health facilities. I joined MuhimbiliWellcomePrograme (MWP) – now MuhimbiliHematology Program (MHP) in August 2014. Currently, I coordinate all technical aspects of the program, these include clinical, laboratory, data and research activities. My main interests are epidemiology of non-communicable diseases (NCDs) and their appropriate evidence based  interventions.


Dr. Derebail, Vimal

University of North Carolina at Chapel Hill, North Carolina, United States.

I am a nephrologist with an interest in hematologic disorders in Nephrology. I completed my medical degree at the Medical College of Georgia and trained in Internal Medicine and Nephrology at the University of North Carolina at Chapel Hill (UNC).  During my fellowship, I also obtained a Masters in Public Health focusing on epidemiology at the Gillings School of Global Public Health at UNC.  I am currently an Assistant Professor of Medicine at the University of North Carolina at Chapel Hill in Chapel Hill, North Carolina, USA. My research interests have been in thrombotic complications of glomerular disease and vasculitis and in hemoglobinopathies and their complications leading to kidney disease. Specifically, I have studied the role of sickle cell trait as a risk factor for kidney disease and have demonstrated this in epidemiological studies of individuals with end-stage and chronic kidney disease.  I also collaborate with our institution’s hematologists in studying albuminuria and kidney disease in individuals with sickle cell disease. I have been involved with studies of both the pathophysiology of sickle cell kidney disease and potential novel interventions. I have authored review articles and book chapters in multiple nephrology texts on sickle cell kidney disease and also participated in the kidney disease working group of the US National Heart Lung Blood Institute (NHLBI) effort to establish ontology in sickle cell disease. I am a practicing clinician and work both in our academic hospital center and our community dialysis units, serving as medical director for one of these.  I hope to establish a relationship with the H3Africa consortium through which I hope I can offer my experience.


Miss. Geard, Amy

University of Cape Town, Cape Town, South Africa.

MSc student at the University of Cape Town. I completed my BSc in Genetics and Biochemistry in 2014, and my Honours in Human Genetics in 2015 at the University of Cape Town. I work on Sickle Cell Disease, with an interest in genetic modifiers that modulate the predisposition of patients to the development of certain cardiovascular phenotypes, particularly renal failure. I am the curator for the H3ABionet Sickle Cell Disease Ontology.


Dr. Inusa, Psalm

Guy’s and St Thomas NHS Trust, London, United Kingdom.

A visiting Professor at Kaduna state University, Honorary Reader at King’s College London, and Lead Consultant at the Paediatric Comprehensive Sickle cell and thalassaemia Centre, Guy’s and St Thomas Hospital, London. He is a fellow of the Royal College of Paediatrics and Child Health, American Society of Hematology and a member of the international management committee responsible for global haematology. He has a SCD project in Nigeria (Katsina, Kaduna and Abuja) for the establishment of Newborn SCD Screening.

He is secretary for the UK Forum on Haemoglobin Disorders, responsible for the development of national standards of care, quality assurance and designation of networks of centres. He runs an international sickle and thalassaemia program that attracts global participation.

Research Interest: He leads a number of sickle cell research studies including two clinical trials recently published in New England Journal of Medicine -silent cerebral infarct transfusion trial (SITT) and Prasugrel drug trial in sickle cell disease (DOVE trial), He is UK chief investigator for a number of drug trials e.g. i)Evaluation of purified Poloxamer 188 in vaso-occlusive crisis of sickle cell disease (epic) ii) The efficacy and safety of Ferriprox® for the treatment of transfusional iron overload in patients with sickle cell disease or other anaemias iii) International sentinel site surveillance of patients with transfusionalhemosiderosis treated with Exjade in actual practice.

He has a wide research portfolio in sickle cell disease including i) renal impairment in SCD ii) Prevention of Morbidity in Sickle Cell Disease (POMS 2):  A pilot study of nocturnal respiratory support which shows that auto-adjusting positive airways pressure is preferred to oxygen therapy iii) Health Related Quality life and mental health studies. Chief investigator for sickle cell anaemia Transcranial Doppler educational study (scates) which includes Italian and Republic of Ireland site.

He is a reviewer of a number of high impact journals and grant awarding bodies, He is the founder of SCORE (www.score-international.org) for advancement of research in sickle cell and thalassaemia and improvement in patient care.


Dr. Knight-Madden, Jennifer

Sickle Cell Unit, TMRI, University of the West Indies, Jamaica.

Jennifer Knight-Madden is Professor of Pediatric Pulmonology and Clinical Research and Director of the Sickle Cell Unit of the Tropical Medicine Research Institute, the University of the West Indies.  She is also Co-Chair of the Sickle Cell Disease Working Group, SickKids Caribbean Initiative;  Vice President of the Caribbean Network of Researchers in Sickle Cell Disease and Thalassemia; and member of the Jamaican Sickle Cell Technical Working Group.  She has been an advisor to the Shikuri project.  She is a board certified Paediatric Pulmonologist.

Professor Knight-Madden graduated from UWI’s medical school in 1988.  She completed training in Paediatrics at the Hospital for Sick Children in Toronto (1990-1994) and Fellowship training in Paediatric Pulmonology at Duke University Medical Center (DUMC) in Durham, NC (1994-1997). She completed an MSc in Biometry (DUMC, 1999) and a PhD in Clinical Research (King’s College London, 2006)

Professor Knight-Madden joined the Sickle Cell Unit (MRC) in 1997 and the TMRI in 1999 and has been involved in both the Jamaica Sickle Cell Cohort Study and the Jamaica Sickle Cell Unit Birth Cohort Study.

Her current research interests include the pulmonary complications of SCD, clinical trials and implementation research.  Her body of published of work now includes two book chapters, one book (2 editions), and more than 40 original papers and 70 abstracts.


Dr. Liyoka, Catherine Chunda

University Teaching Hospital, Lusaka, Zambia.

Pediatrician serving as a Consultant in the Pediatric Infectious Disease unit and Acting Consultant in the Hematology-Oncology Unit at the University Teaching Hospital (UTH) in the Department of Pediatrics and Child Health in Lusaka, Zambia. The UTH is Zambia’s largest tertiary health institution and currently the only one providing specialized care to Hematology and Oncology patients. I am also an Honorary Lecturer at the University of Zambia in the School of Medicine, involved in teaching and mentoring Undergraduate and Postgraduate students. I have been working in the Hematology Unit for over 6 years, during which I have provided hands on clinical care to Sickle Cell Disease (SCD) patients, taught doctors, medical students and provided training and mentorship to all cadres of health workers on SCD. I am currently involved in the production of the first ever national guidelines for SCD management in my country. I am the country PI in a collaborative research with Harvard University on a “point of care testing” for SCD and I also mentor postgraduate student in preparation for their dissertations.


Dr. Munube, Deogratias

Makerere University/Mulago Hospital, Kampala, Uganda.

Deogratias, MBCHB, MMED, PhD is a Paediatrician/Lecturer and PhD fellow in the Department of Paediatrics and Child Health, Mulago Hospital/Makerere University.  He has had 10 years experience in neonatal and child health (5 years up-country and 5 years in an urban setting). He is currently pursuing a PhD in neurology under the Mepi-Neuro linked award. His project is on the risk factors for stroke in children with sickle cell anaemia in Uganda. He is looking at some risk factors which include genetic, socio-economic, immunological and cerebral vessel speeds as a risk factor for stroke. He works on the Haematology/Cardiovascular ward of Mulago Hospital where all children with various Haematological disorders are admitted. These children commonly include children with sickle cell disease. He also spends his clinic time in the Sickle cell disease Day care clinic which cares for the out-patient management of children. Deogratias participates in the teaching of both undergraduate and postgraduate students of the University. In addition, he is an ETAT+ trainer (Emergency Triage Assessment and Treatment in the first 24 hrs) and has participated in the introduction of ETAT+ in Uganda with the support of the Department of Paediatrics and Child Health, Makerere University/Ministry of Health, Uganda and in partnership with the Royal College of Paediatrics and Child Health, UK.


Dr. Park, Miriam

Instituto da Criança, Hospital das Clínicas, São Paulo Medical School, University of São Paulo, Brazil.

I am a Pediatric Hematologist that was born and live in São Paulo- Brazil. I am married, I have 2 daughters and my husband is also a doctor. I graduated in 1993 and after completing a Residency in Pediatrics and Pediatric Hematology; I have been working in the field of hematology, specifically seeing patients with anemias. The hospital I work for is a tertiary center, and it is a reference for patients that come from the surrounding area, other Brazilian states, and even neighboring countries. I have a particular interest in Sickle Cell Disease, and it allowed me to work as one of the investigators of REDS III Study in Brazil. It has been such a great experience to participate in this study. After the first year of data collection, we are planning to start analyzing the data, making conclusions and give some contribution to the national and even international scenery in SCD.


Mr. Pule, Gift

University of Cape Town, Cape Town, South Africa.

PhD student in the Division of Human Genetics and Hematology. I work on Sickle Cell Disease and model the post-transcriptional regulation of Hydroxyurea-induced Fetal Hemoglobin through microRNAs in hematopoietic stem cells and erythroid cell lines. We have developed 2 in vitro models for expression studies on Sickle Cell Disease and perform functional analyses on various positive and negative regulators of Fetal Hemoglobin such as BCL11A, MYB and KLF-1 and demonstrate a direct relation between these regulators and microRNAs in order to elucidate a post-transcriptional regulatory tier of Fetal Hemoglobin. We also investigate genomic variants that modify Fetal Hemoglobin expression in Sickle Cell patients from Cameroon.


Prof. Tshilolo, Léon

CEFA/MONKOLE, Kinshasa, Democratic Republic of the Congo.

Léon Tshilolo was born in Lubumbashi, DRC. He graduated from Medicine in 1980 from University of Padua in Italy, and completed a postgraduate fellowship in Paediatrics in 1984 after a Pediatric Residency Training in the Pediatric Hematology Department (L. Zanesco). He went to Belgium (Institut St Léopold, Antwerpen) where he graduated in Human and Animal Mycology and in Tropical Medicine before his return to DRC in 1985. In DRC, he implemented a Unit of Haematology in the Gecamines Medical Department (Kolwezi and Lubumbashi) and established the first comprehensive sickle cell center in the Katanga province. From 1995 to 1997, he displayed his skills by training in Hematology and Chemistry at Erasme Hospital, ULB in Brussels (F. Vertongen), Hôpital Robert Debré in Paris (J Elion) and Hammersmith Hospital, London/UK (L Luzzato), respectively. He is a clinician whose strength and experience lies in tropical pediatrics, as well as having good expertise on Sickle cell disease. He was nominated Professor of Pediatrics and Haematology at Lubumbashi University (UL) and at Ufficial University of Mbujimayi (UOM) in DRC. He has a PhD in Medicine based on studies in genetics, clinical and hematological parameters in Congolese SCA patients. He is a visiting professor at Campus Bio Medico di Roma, Italy. He is also temporary Consultant of WHO for his expertise in hemoglobinopathies.LéonTshilolo was the Medical Director of Centre HospitalierMonkole (1998-2015) in Kinshasa where, in 2009, he implemented the first systematic newborn screening of SCD. He is presently Director of the Educational and Training Center “CEFA” (Centre de Formation et d’Appui sanitaire) in Kinshasa, and regularly engages in educational programs dedicated to physicians and biologists.  Léon Tshilolo is a Co-founder and the president of the “REDAC”, a network of Sickle Cell Study in Central Africa, which develops multicentric studies on SCD in Central Africa. He is also the DRC Lead Investigator of REACH – Realizing Effectiveness Across Continents with Hydroxyurea. He is member of many scientist associations (Pediatrics, Mycology, Hematology) and reviewer of medical journals. He is a Member of the French National Academy of Medicine (AcadémieNationale de Médecine de France).