Invitation to RARE DISEASE LECTURE
LECTURE: The Pediatrician’s Role in Understanding and Diagnosing Gaucher Disease
DATE: February 10, 2016, 3:00 to 4:30 p.m. at Yale University School of Medicine
SPEAKER: Dr Pramod Mistry, MD, PhD, FRCP, Professor of Medicine and Director of the Yale Lysosomal Disease Center and Gaucher Disease Treatment.
EVENT HOSTS: The Excellence in Pediatric (EIP) Institute: a not-for-profit with a global reach that represents and unites 45,000 pediatric healthcare professionals around the world – www.ineip.org
LOCATION: Yale University School of Medicine, Anlyan Center, 300 Cedar St. TAC-224, New Haven, CT 06519 - Attendance is free, but seating is limited
CONTACT: To reserve your seat, please contact Russell Hale at: email@example.com
Further information on the Speaker, Excellence in Pediatrics Lecture Series and the Venue Hosts
Pramod K Mistry, MD, PhD:
Dr. Mistry is the Director of National Gaucher Disease Treatment Center and Professor of Pediatrics and Medicine at Yale School of Medicine, New Haven, Connecticut. His clinical, research and educational activities center around inherited metabolic liver diseases and in particular on Gaucher disease. Dr. Mistry has authored numerous journal articles, book chapters and reviews on Gaucher disease. He has received several awards for his work on Gaucher disease, including the Alan Gordon Memorial Award, Physician of the year award from Genetic Disease Foundation of New York and Fellowship of the Royal College of Physicians of London.
The Excellence in Pediatric (EiP) Institute: a nonprofit association with a global reach, that represents and unites 45,000 pediatric healthcare professionals around the world (www.ineip.org). EiP’s approach is to focus on a number of initiatives and campaigns that bring together the top national and international experts in a particular area of pediatrics to produce educational materials (free-to-view e-learnings, conference sessions and support portals) for pediatricians and parents.
The US Rare Disease Initiative is the latest part of the campaign with the concept being that by working with the leading US experts in Lysosomal Storage Diseases – EiP can provide the latest impartial and practical advice to pediatricians across the US to help to better detect and refer patients they suspect of having a rare disease.
The EIP Rare Disease Lecture Series:
The project takes the form of a lecture series across 5 US cities during the Fall and Winter of 2015-16, with a practical lecture delivered by KOLs in front of an audience of their colleagues, peers, and patient group representatives. The lectures will be filmed and made into free-to view e-leanings that can be viewed by frontline pediatricians online to increase the early detection rates of rare diseases across the US.
Yale University School of Medicine: Founded in 1810, the Yale School of Medicine is a world-renowned center for biomedical research, education and advanced health care.
Directions to The Anlyan Center (TAC) Building
Taking I-95 North: Leave I-95 North at Exit 47 (Downtown New Haven/Rte 34). This is a LEFT side exit. This puts you onto an exit expressway. Merge onto CT-34 W via EXIT 1 toward Downtown New Haven. Then follow the directions below.
Taking I-95 South: Leave I-95 South at Exit 47 (Downtown New Haven/Rte 34), just after the bridge This is the center one of three exits. Merge onto CT-34 W via EXIT 1 toward Downtown New Haven. Then follow the directions below.
From I 91 South: Leave I-91 South at Exit 1 (Downtown New Haven/Rte 34). This exit puts you onto an exit expressway. Take Exit 1 (the first exit) off the expressway which merges onto Frontage Road and follow the directions below.
If you want to park on the street, take EXIT 2 toward College St/ N. Frontage Rd. Turn Left onto College Street and continue for two blocks. Turn slight right onto Congress Ave. The Anlyan Center (TAC building) is at the next corner. If you will be parking in the garage suggested below, follow the directions listed below.
If you prefer to park in a garage, follow the short expressway to its end in New Haven. You will be next to a huge parking garage (Air Rights Garage) at the intersection of York and North Frontage/Rte 34. Keep to your left on this final off ramp and then make a left into the garage and park. Take the elevator to street level. Walk on York St. towards the Medical center
(the corner with the Subway store) and cross the road (S. Frontage) and continue on York St. to the next intersection. Cross over and then make a L there on Cedar St. Walk about 1 long block to the intersection of Cedar St. and Congress Avenue. Cross there and enter the TAC Building (300 Cedar St) which is the huge building diagonally to your right at 11 O’Clock.
The Pediatrician’s Role in Identifying and Understanding Gaucher Disease
- A better understanding of the signs and symptoms of Gaucher disease.
- Ability to identify the key diagnostic features of Gaucher disease.
- Understanding the ‘next steps’ to take after a diagnosis of a Gaucher disease to maximize treatment for the patient.
- Brief introduction on Gaucher disease, the first subtype of lysosomal storage diseases that had an effective enzyme replacement therapy.
- Discuss current diagnostic methods including the unique challenges in identifying Gaucher disease and the shortcomings in current diagnostic options – Objective: Give pediatricians a basic understanding of the main diagnostic procedures for Gaucher disease to prevent costly delays in diagnosis that prevent patients from prompt treatment.
- The importance of genotyping – Objective: Pediatricians will learn the importance of determining the specific genetic mutation affecting the Gaucher disease gene and the implications for other family members.
- Consequences of delayed diagnosis and treatment – Objective: Pediatricians will learn that better clinical outcomes are associated with earlier diagnosis and how the varied manifestations of this disorder impact a patient’s quality of life.
- What to look for – Objective: Pediatricians will learn how to recognize the key diagnostic features of Gaucher disease as well as uncommon presentations of the disorder that are not obviously connected to the underlying enzyme defect.
- A heterogeneous disorder – Objective: Pediatricians will learn that there is a broad potential disease expression in Gaucher disease including diverse manifestations, a broad range in age of onset, and a wide clinical spectrum of disease severity.
- Much to learn – Objective: Much about Gaucher disease is still not fully understood. Pediatricians will learn what aspects of the disorder still have unresolved questions including a full understanding of disease pathogenesis, the best management strategies for neuropathic disease, the underlying pathogenesis of bone disease, and the specific factors that cause the highly variable nature of the disorder.
- Next steps – Objective: Pediatricians will learn where to refer patients to a specialist for treatment decisions and what organizations exist that can provide support and education for Gaucher patients.
VIEW PREVIOUS LECTURE ON RARE DISEASES
When Common Complaints are the Signs of Lysosomal Storage Diseases – Identifying LSDs - October 19th, 2015, Boston MA - Dr. Amel Karaa, Clinical Director, Lysosomal Storage Diseases Program Massachusetts General Hospital & Instructor of Medicine Harvard Medical