Eric Topol's "The Patient Will See You Now" cites NGLY1

Eric Topol's new book, The Patient Will See You Now, is an excellent read on the future of medicine and the era of engaged patients.

The NGLY1 community has since its inception been a model of how it's possible to push the science forward with engaged patients and technology.

It is a great pleasure to see the NGLY1 community (and NGLY1 Dad Matt Wilsey of the Grace Wilsey Foundation) cited in a few pages as a example of an engaged patient community.

Topol cites the NGLY1 community's efforts at patient-finding over the internet, as well as harnessing "individuals outside the box" in medicine.

NGLY1 researcher Gregory Enns (Stanford) comments, "This represents a complete change in the way we're going about clinical medicine."

The NGLY1 Community may be small, but it is united and it is committed.

Working together, we can make a difference.

We will make a difference.

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2015 Running for Rare Diseases

A diagnosis is the first step toward a cure.  Bertrand, Victoria and Winston Might are proud to partner with Pam Lynch from Genzyme on the 2015 Running for Rare Diseases Team to support the Undiagnosed Diseases Network.

NGLY1.org is proud to partner with the 2015 Running for Rare Diseases Team to raise awareness and funds in support of the Undiagnosed Diseases Program at NIH through NORD.  

It wasn't that long ago that all of our NGLY1 kids were undiagnosed and without hope.  A diagnosis can change so much!  

Duke, Stanford, Baylor, Harvard, NIH are among the nodes in the Undiagnosed Diseases Program that have played/continue to play an active role in NGLY1 research.  

It is our hope that through our encouragement and support, these fantastic scientists will be able to help many more undiagnosed kids as well.

Facts about this year's team:

• 102 Running Team Members (23 - Boston Marathon, 2- Paris Marathon, 80- Providence Half and Full Marathon – a few are doing more than one race)
• 74 Runner/Patient partnerships
• 58 Rare Disease Communities represented  (See Table below)
• Runners from 14 different states and 3 different countries
• Patient Partners from 19 different states and 3 different countries

Rare Disease Communities Represented
9p-deletion	gne-myopathy (HIBM)	Miyoshi Myopathy
Addison's Disease	Griscelli Syndrome Type 1	Mucopolysaccharidoses Type 1 (MPS 1)
Arterial Tortuosity Syndrome (ATS)	Hereditary Angioedema	Multiple Sclerosis (MS)
Atypical Abetalipoproteinemia	Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS)	Myelodysplastic syndromes (MDS)
Autism	Hereditary Spastic Parapalegia (HSP)	Neuronal Ceroid Lipofuscinosis (NCL) or Batten Disease - infantile
Autoimmune polyendocrine syndrome type 1 (APS-1)	Homocystnuria	N-glycanase (NGLY1) deficiency
Bilateral Congenital Cataracts	Hypoparathyroidism	Niemann-Pick A
Cadasil	Hypothalamic Harmatomas (HH)	Niemann-Pick B
Chronic Intestinal Pseudo Obstruction/Motility Disorder	Jackson-Weiss Syndrome	Paroxysmal Nocturnal Hemoglobinuria
Congenital Central Hypoventilation Syndrome (CCHS)	Juvenile Arthritis	Pompe
Congenital Hyperinsulinism (CHI)	Klippel-Feil Syndrome (KFS_	Prader Willi Syndrome (PWS)
Cushing Syndrome	Langerhans Cell Histiocytosis (LCH)	Rothmund Thomson Syndrome (RTS)
Cyclic Vomiting Syndrome (CVS)	Laryngeal Cleft	Scleroderma
Erythemae Multifromae	Lupus	Shwachman - Diamond
Familial Hypocholesterolemia	Mast Cell Disease	Stiff Persons Syndrome (SPS)
Fibrodysplasia Ossficans Progressiva (FOP)	Mastocytosis	Tyrosinemia
Fibromuscular Dysplasia	Metachromatic Leukodystrophy (MLD)	Undiagnosed
Frontotemporal Dementias	Microthalmia	Vanishing White Matter Disease
Gaucher	Mitochondrial Disease	Von Hippel-Lindau syndrome (VHL)
		Williams syndrome

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