MLD Family Conference™ ... Newark, Delaware - 2015


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Registration Closed
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  Online registration for this conference closed on Saturday, June 6. If you would still like to register we will try to accommodate you as best we can. Please contact us via email or at +1 503-656-4808.

LIVE WEBCAST: There will be plenty of space on the free live webcast, which will appear on the Conference Overview page during the conference.

*** We are sorry, due to planning and space constraints we cannot accommodate on-site registration or walk-in attendees. ***

See the Conference Invitation


2015 MLD Family Conference™ AGENDA

Sponsored by the MLD Foundation

July 10-11th in Newark, Delaware

as of July 6th, 2015 – subject to change ... See last year's agenda here


Friday, July 10th

9:30

Doors open - sign in & registration,
respite room opens

Embassy Suites, Newark, Delaware
map iconclick for address & map to hotel

Respite: Queen Christina Ballroom
Meeting: Lord De La Warr Ballroom

10:00

Welcome & Introductions

- Dean Suhrmember of one of the MLD Boards, President & co-Founder, MLD Foundation

10:30

Photography - Living in the Light

Levi Gershkowitz, Living in the Light™


Metachromatic Leukodystrophy: Overview,
Genetics, Newborn Screening, & Research
Moderator: Dean Suhr, President, MLD Foundation

10:45

Understanding MLD
- Chemistry, biology, genetics, progression

Research Collaborations
- Basic science
- Natural History & OpenNHS
- GLIA - Global Leukodystrophy Initiative

Developing & Approving a Therapy
- What's involved pre-human
- Human studies
- Natural History Studies
- Therapy approval

PANEL:

- Brett Crawford Ph.D., Staff Scientist, BioMarin, San Diego CA

- Dr. Marc Patterson, Mayo Clinic, Rochester MN

- Dr. Adeline Vandervermember of one of the MLD Boards – Children's National Hospital, Washington DC

- Dr. David Wengermember of one of the MLD Boards – Director, Lysosomal Diseases Testing Laboratory, Philadelphia, PA

12:15 Lunch
atrium

1:15

Patient Powered Research
- Advancing research & improving quality of care
- CENA, PCORI, GLIA

- Dean Suhr, MLD Foundation

- Dr. Adeline Vandervermember of one of the MLD Boards – Children's National Hospital, Washington DC

1:45

Newborn Screening
- Science: Updates on the development of a MLD screen
- NBS Policy Update
- RUSP Round-table Initiative

- Dean Suhrmember of one of the MLD Boards, MLD Foundation

- Teryn Suhrmember of one of the MLD Boards, MLD Foundation

- Dr. Can (John) Ficicioglu – Director, Newborn screening program​, Children's Hospital of Philadelphia

- Dr. Andrew Shenker –  Vice President Metabolic & Rare Disease, GlaxoSmithKline (GSK)

2:15

Current Research & Therapies


RESEARCH:
- Gene therapy - Taipai, Taiwan
- Receptor Mediated Transport
- Gene therapy - London, Canada
- Substrate Reduction Therapy (SRT)

CURRENT THERAPIES:
- Stem Cell Transplant

CLINICAL TRIAL UPDATES :
- Enzyme Replacement Therapy (ERT)
- Intracerebral Gene Therapy - Paris
- Gene Therapy With Transplant - Milano
- other research

- Dr. Jim Calloway, CEO, Armagen, Calabasas CA

- Brett Crawford Ph.D., Staff Scientist, BioMarin, San Diego CA

- Dr. Uzma Atif – Sr. Medical Science Liasion, Shire (ERT), Lexington, MA

- Brett Crawford Ph.D. – Staff Scientist, BioMarin, San Diego CA

- Dr. Alessandra Biffimember of one of the MLD Boards – San Raffaele Institute (Gene Therapy), Milano Italy

- Dr. Tony Rupar, (video interview) – Children's Health Research Institute (gene therapy), London, Ontario CANADA – invited

- Dr. Caroline Sevin (video interview), Inserm (Gene Therapy), Paris – invited

3:00
break
 

3:15

Current Research & Clinical Trial Updates ... continued


4:00

Medical Cannabis, CBD Oil, Medical Marijuana
- What is it? ... THC vs. CBD
- Why all of the interest?
- Legal, access, & regulatory issues
- Choosing a product & dose
- How to assure quality & consistency
- Setting goals and recording results to benefit all

- Dean Suhrmember of one of the MLD Boards, President & co-Founder, MLD Foundation

- Teryn Suhrmember of one of the MLD Boards, Executive Director & co-Founder, MLD Foundation

- Constance Finley – President, Constance Pure Botanical Extracts, Oakland CA via Skype

5:15

Recap & Next Steps

- Dean Suhrmember of one of the MLD Boards, President & co-Founder, MLD Foundation

5:30-7:00
free time
(Embassy Manager's reception in atrium)

7:00

Hosted casual dinner

casual hosted dinner in the hotel atrium

9:00 - midnight

MLD After Hours ... an informal time

tba
Drop by whenever you can


tbd - to be determined

member of one of the MLD Boards Member of the MLD Foundation's Medical and Scientific Advisory Board (MSAB) or the MLD Foundation Board (fiduciary)



Saturday, July 11th


Practical Living with MLD ... the practical aspects of day to day life with MLD

Moderator: Teryn Suhr, Executive Director, MLD Foundation



7:00-8:45

Embassy cook to order breakfast
atrium
8:30am

8:45am
Respite room opens

Meeting room Doors open

Respite: Queen Christina Ballroom

Meeting: Lord De La Warr Ballroom

9:00 Saturday Welcome
- Teryn Suhrmember of one of the MLD Boards, Executive Director & co-Founder, MLD Foundation

9:15

CHOP Leukodystrophy Center

A working model of a regional clinical center of excellence
- Erin Prange, MSN, CRNP (Certified Nurse Practitioner), Director of Clinical Operations - CHOP Leukodystrophy Center
9:30 The Bigger Picture
- Dean Suhrmember of one of the MLD Boards, President & co-Founder, MLD Foundation

- Teryn Suhrmember of one of the MLD Boards, Executive Director & co-Founder, MLD Foundation

- Christine Hoffmannmember of one of the MLD BoardsMLD Mom and MLD Foundation Board Member, Scottsdale AZ

10:15  break
11:00 A Different View of MLD

This session will give a view of MLD through the eyes of other family members

Jclynn Dees, Courtney Shook, Riley Behnken, Brett Robinson, Tony Hodgson

... and al the families

12:15 Group Picture location to be announced
12:30 Lunch atrium
1:45 Gather for Angel Ceremony location to be announced
2:00 MLD Angel Ceremony everyone - location TBD
2:30 Help! My Brain's a Mess!

This session will address the neurometabolic aspects of caring for a loved one with MLD
Topics include medications, procedures, PAID, seizures, etc.

PANEL:
- Dr. Julie Hauermember of one of the MLD Boards, Pediatric Palliative & Pain Care Consultant, Boston Children's Hospital, Boston, MA

- Dr. Marc Patterson, Mayo Clinic, Rochester MN

- Erin Prange, MSN, CRNP (Certified Nurse Practitioner), Director of Clinical Operations - CHOP Leukodystrophy Center

- Tara West, RN, MSN, CPNP (Certified Nurse Practitioner), NDRD – Program for the Study of Neurodevelopment in Rare Disorders (Escolar), Pittsburgh, PA

... and all of the families

3:15 Break  
3:30 Ideas for When Things Just Won't Work

This panel will address the physical symptoms that MLD causes and ways to help.
Topics include PT, OT, adaptive equipment, positioning, cognitive therapy, etc.

PANEL:
- Dr. Julie Hauermember of one of the MLD Boards, Pediatric Palliative & Pain Care Consultant, Boston Children's Hospital, Boston, MA

- Tim Estilow, Occupational Therapist –  CHOP, Philadelphia, PA

- Michelle Pierce, MLD Mom, Jefferson, MA

- Tara West, RN, MSN, CPNP (Certified Nurse Practitioner), NDRD – Program for the Study of Neurodevelopment in Rare Disorders (Escolar), Pittsburgh, PA

... and all of the families

4:15

Beyond Words...

This session will explore the MLD story as seen by others and felt by those on the MLD journey.

Levi Gershkowitz, Living in the Light™

- Teryn Suhrmember of one of the MLD Boards, Executive Director & co-Founder, MLD Foundation

... and all of the families

5:15

Group Hug, Closing Remarks

- Dean Suhrmember of one of the MLD Boards, President & co-Founder, MLD Foundation

- Teryn Suhrmember of one of the MLD Boards, Executive Director & co-Founder, MLD Foundation

5:30 - 7:30

free time

(Embassy Manager's reception in atrium)

7:00

FMLD cowboy hatFMLD Western RoundupFMLD cowboy hat

A MLD Family™ Celebration


Embassy Suites

10:00

MLD After Hours ... an informal time

tba
Drop by whenever you can


tbd - to be determined

member of one of the MLD Boards Member of the MLD Foundation's Medical and Scientific Advisory Board (MSAB) or the MLD Foundation Board (fiduciary)



Sunday, July 12th

Sunday is an optional social day.
Hotel checkout is at noon
.


Thank you to our sponsors, service, & grant providers
:

Shire Pharmaceuticals   Believing For Bryleigh   Stennis Foundation   CoriPalooza  
who through their sponsorships, grants, and support are making this conference much more affordable for the attending families.

We also wish to thank the individual families for their donations to the scholarship fund.


Questions?
Contact Dean Suhr <deansuhr@MLDfoundation.org> +1 503-656-4808, USA: 1-800-617-8387, or FAX +1 503-212-0159
This conference is organized by the MLD Foundation. Check with your tax advisor about the deductibility of any expenses associated with this conference.


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Lawrence Charnas, MD, PhD works in the Musculoskeletal Disease Translational Medicine group at Novartis Institutes of Biomedical Research (NIBR) in Cambridge, MA. He was previously Director & Head of Discovery Medicine at Shire in Lexington, Massachusetts where he was the Medical lead on several clinical development programs including ACE031, a soluble ActRIIb receptor for Duchenne Muscular Dystrophy and an enzyme replacement therapy in Globoid Cell Leukodystrophy (Krabbe Disease).

Prior to joining Shire, he was an Associate Professor of Pediatrics and Neurology at University of Minnesota, working on the treatment of Adrenoleukodystrophy and other lysosomal leukodystrophies with Hematopoietic Cell Transplant. Prior to joining the faculty at University of Minnesota, he had developed expertise in a number of other rare, pediatric genetic diseases including cystinosis, osteogenesis imperfecta and the Oculocerebrorenal syndrome of Lowe.

He received his B.A. in Chemistry (Cornell University, Ithaca, NY), an MD and PhD - Genetics ( University of Pennsylvania, Philadelphia, PA) and clinical training in Adult Neurology (Johns Hopkins Hospital, Baltimore, MD), Medical and Biochemical Genetics (NICHD, Bethesda, MD), and Pediatric Neurology (University of Minnesota).

He has co-authored many peer reviewed articles, and serves on the Medical and Scientific Advisory Boards of the MLD Foundation and Lowe Syndrome Association.

Dr. Wenger directs the largest lysosomal storage diseases (LSD) testing laboratory in the world at Jefferson University in Philadelphia. MLD Foundation considers his work to be the gold standard of consistency and quality for MLD and other lysosomal disease (LSD) diagnostics.

Dr. Wenger is a member of the MLD Foundation Medical and Scientific Advisory Board.

The LSDs are a group of genetic disorders cause by mutations in genes that code for proteins required for the lysosomal catabolism of naturally occurring carbohydrates, proteins, and lipids. About 35 such disorders have been defined and over 20 are diagnosed in this laboratory. Samples are sent to this laboratory from around the world for help in diagnosing a patient with certain symptoms, for carrier testing and for prenatal testing. Most diagnostic tests are enzyme-based but others require the use of specific antibodies, tissue extraction, radio-labelled lipid loading or molecular analysis for known mutations. The experience of the research laboratory is brought to diagnostic laboratory in the form of new test development, and interesting patients can be studied in the research laboratory to help answer important questions regarding protein structure and function.

Medical School
BS, Temple University - School of Pharmacy, Pharmacy - 1964
PhD, Temple University - School of Medicine, Biochemistry - 1968

Board Certification
Licensure, CLIA,
American College of Medical Genetics, American Board of Medical Genetics, Board Certification, Clinical Biochemical Genetics and Clinical Molecular Genetics

Research and Clinical Interests
Krabbe disease ... Dr. Wenger's laboratory the first laboratory to purify GALC and clone the GALC cDNA and gene which causes KD. The lab has diagnosed nearly 400 patients of all ages with KD spanning nearly 60 mutations. Dr. Wenger has placed human and mouse cDNAs into several viral vectors including retroviral, adeno-associated viruses, lentivirus and SV40. They have successfully transduced oligodendrocytes from the twitcher mice model with viral vectors containing human GALC cDNA and corrected them to a normal phenotype.

ACADEMIC APPOINTMENTS (1997-present):

Jefferson Medical College, Philadelphia, PA. September 1986 - November 1998, Professor of Medicine (Medical Genetics), and Biochemistry and Molecular Pharmacology

Director, Lysosomal Diseases Testing Laboratory. 1974-present

OTHER ACTIVITIES (1997-present)

Scientific Advisory Committee of the National Tay-Sachs and Allied Diseases Association

Advisor - United Leukodystrophy Foundation, Inc.

Editorial Board of Molecular Genetics and Metabolism (1991-present)

Medical and Scientific Advisory Board - MLD Foundation

Scientific Advisory Board of the National Mucopolysaccharidosis Society

Scientific/Medical Advisory Committee of the Canavan Disease Foundation

Program Committee-American Society of Human Genetics (1994-1997)

NIH Board of Scientific Counselors; review of Intramural Research Programs at NIH, October 1997

Working Group of NIGMS Human Genetic Cell Repository, 2001-2004