Beating all odds

Impossible diseases

Saturday | April 15th 2023

Beating All Odds

Medicine has triumphed over many diseases, but some are yet to be beaten and remain impossible to cure even in the eyes of modern medicine.

From diseases without treatment, to zebras whose hoofs frequently slide silently through differential diagnosis, healthcare still doesn’t reach every disease. Thus, our challenge is to confront head-to-head the illness, patient and physician.

In the module Beating All Odds: Impossible Diseases, let’s discover these impossible diseases that Medicine still hasn’t defeated and figure out how we can help the people who suffer from them.

Ari Zimran, MD

Founder of the Gaucher Unit at Shaare Zedek Medical Center in Jerusalem

Senior Physician of Internal Medicine

Professor Ari Zimran was the founder and director of the Gaucher Unit at Shaare Zedek Medical Center in Jerusalem from 1990 to 2018, and is currently a Senior Physician in the Unit, specialized in Internal Medicine. This is the world’s largest referral center for Gaucher Disease (GD), having monitored more than 900 patients to date, and currently treating about 350 patients with enzyme replacement and substrate reduction therapies.

Professor Zimran developed his interest in GD during his fellowship at the Scripps Research Institute, Department of Molecular and Experimental Medicine in La Jolla, California under the mentorship of Professor Ernest Beutler.

Lucy McKay, MD

Bachelor of Medicine in Queen Mary University of London

CEO of Medics4RareDiseases

Dr. Lucy McKay is a UK trained physician and the CEO of Medics4RareDiseases. Dr. Lucy’s brother suffered from a rare disease and, for that reason, she grew an interest in the topic. She studied Human Genetics at The University of Nottingham and then medicine at QMUL. At medical school, Dr. Lucy started Students4RareDiseases (S4RD), which then became Medics4RareDiseases in 2018. M4RD is a registered charity advocating for an attitude change towards rare diseases amongst medical students and doctors in training.

Dr. Lucy’s role as CEO combines her unique personal experiences with her medical background, aiming to improve the patients’ journey and shorten the diagnostic odyssey for those living with rare diseases.

Patient Session

Since the main goal of medicine is to heal people, in this session we aim to give you a new perspective on rare diseases: the Patients’.

Being one of a kind comes with the challenge of suffering through the maze of misdiagnosis and living forever with a disease. However, medicine can bring some answers and understanding to attenuate this pain. Don’t miss this unique opportunity to join us in a conversation with a patient suffering from an impossible disease.

Rita da Motta Marques, MSc

Senior customer success manager at Microsoft

Political advisor secretary of state for youth and sport of Portugal between 2005 and 2009

Rita da Motta Marques is a Senior Customer Success Manager on Microsoft. Currentely, she is a Healthcare Business Industry leader, with a track record of excellence, tripling business growth around the globe, across Healthcare public and private sectors. With competences on technology and business development, Rita da Motta Marques has been driving digital transformation across several geographies to guarantee solid and sustainable results for the organisations.

Moderator

Luísa Pereira, MD

Coordinator of Rare Diseases Study Group of the Portuguese Internal Medicine Society

Coordinator of the Palliative Care Team at Hospital CUF Tejo

Dr. Luísa Pereira completed her medical degree in the Faculty of Medicine of the University of Lisbon, specializing in Internal Medicine. Additionally, Dr. Luísa holds a Masters’s Degree in Palliative Care, being the current coordinator of the Palliative Care Team at CUF Tejo Hospital. Since 2018, she’s a part of the Rare Diseases Study Group of the Internal Medicine Portuguese Society, being its coordinator since May 2022.

Scientific Committee

Patrício Aguiar, MD

Vogal of the Rare Diseases Study Group of the Internal Medicine Portuguese Society

Researcher on Endocrinology, Metabolism, Diabetes, Metabolic Disorders and Inherited Metabolic Disorders

Internal Medicine Physician at the Hospital de Santa Maria, Lisboa

Coordinator of the 1D Internal Medicine Unit at Hospital de Santa Maria, Lisboa

Diogo Cruz, MD

Vogal of the Rare Diseases Study Group of the Internal Medicine Portuguese Society

Former Subdirector of Health

Assistant Professor at the Faculty of Medicine of the University of Lisbon

Internal Medicine Physician

Vice-President of the South Delegation for the Atherosclerosis Portuguese Society