About Us

VISION STATEMENT

MISSION STATEMENT

Providing a future of possibilities for those who are diagnosed with a mutation of USP7.
Our mission is to cure USP7-related diseases. We do this by funding research and identifying more patients.  
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Meet The Board
USP7
Bo Bigelow
Bo is a writer, author, and attorney. He became a rare-disease advocate when his daughter Tess was born with a USP7 mutation. ​​

When genetic testing reached a dead end for Tess, Bo and his wife successfully used social media to launch their search for answers and connect with researchers at Baylor College of Medicine. He made a short film about their search. 
Click Here To Watch

He hosts a blog and weekly podcast called Stronger Every Day, about the challenges of raising Tess. 


He is also a co-founder of
Disorder: The Rare Disease Film Festival.  

Bo holds a B.S. from Georgetown University and a law degree from New York University School of Law. 


He is of counsel to Murray, Plumb & Murray, a law firm in Portland, Maine.

Chairman and Co-founder
Kate McCrann
Kate's foray into rare disease advocacy began the moment her daughter Tess was born. It took Kate and her husband, Bo, years to find a diagnosis for Tess and through the power of social media such as Facebook and Reddit they found researchers in USP7 gene defects. They are now building a foundation with the goal of curing USP7 related disease. Maternal instinct told Kate that Tess was missing something, a protein or enzyme, and she is fiercely determined to find that and help her daughter be the best she can be.

Kate is a practicing gastroenterologist in Portland, Maine. She received her BA from Yale, and MD from Albert Einstein College of Medicine in New York. She returned to Yale for all her post-graduate training in Internal Medicine and Gastroenterology. She, Bo, their son, and Tess love living in Maine. She is an avid marathoner and loves being near the ocean.
USP7
Treasurer and
Co-Founder
USP7
Kristen Hoffecker
Kristen is the proud parent of her daughter who has a USP7 deletion. It took several years of doctors appointments and advocacy to finally diagnosis Alice with her 16p deletion.  Kristen wants to help make the journey to diagnosis and treatment easier for other parents of children with USP7 mutations. Kristen has spoken locally and nationally about her daughter's condition and their journey.  

Originally from Michigan, Kristen attended Michigan State University followed by the University of Denver College of Law.  Kristen is a practicing attorney specializing in protective proceedings and serves as a Municipal Court Judge. Kristen and Alice live in Colorado enjoying the great outdoors with their dog beloved dog Bambam
.
Vice-Chairman
USP7
Becky Raatz
Becky is currently a stay-at-home-mom to three children. After originally being told her daughter had a terminal disorder, their path led them to discovering she actually had a missense mutation of the USP7 gene.

Prior to becoming a stay-at-home-mom, Becky graduated from Dover Business College and began her career at M&M/Mars. She worked for 10 years in their national office in New Jersey. She handled the sales training logistics for the sales force, including coordinating all training programs with hotels, enrollment management, website management and budgeting. She currently lives in Florida and enjoys running, the warm Florida sun and heading to Disney World often with her family.
Secretary
USP7
Britt Humphries
Britt is a wife, mother of two, and a special education teacher. Britt became an advocate when her daughter Ella-Marie first started school and entered the world of special education services. After years of appointments and referrals and searching for answers, Ella-Marie received genetic testing and it was discovered she had deletions of USP7 and c16orf72 at Chromosome 16p13.2.  It was several more years of searching before any information was found about these deletions. Britt wants to make sure other families don't have to wait years for information and that they advocate for their child's needs. 

Britt received her Bachelors in Education from Arkansas Tech University, Masters in Adult Education from the University of Arkansas, Masters in Special Education from Arkansas State University, and Educational Specialist in Reading from the University of Arkansas Little Rock. Britt is currently advocating for and serving kids as a Special Education Teacher. Britt and her family enjoy camping and fishing in their home state of Arkansas. 
Director
Medical Advisory Team
USP7
Christian Schaaf
Christian Schaaf has a knack for discovering rare genetic diseases. In 2013, he discovered a genetic disorder caused by a disruption of the MAGEL2 gene on chromosome 15. That disorder now bears his name: Schaaf-Yang Syndrome. Over the ensuing months, he investigated the proteins that interact with the MAGEL2 gene. In so doing, he discovered the neurodevelopmental disorder that results from USP7 mutations. 

He is also credited with discovering Bosch-Boonstra-Schaaf Optic Atrophy Syndrome, a condition caused by mutations in the NR2F1 gene, that leads to optic atrophy and developmental delay/intellectual disability. 

Not only is Christian a researcher, but he is also a clinician. He is dedicated to children with special needs, in particular those with neurodevelopmental and neuropsychiatric disorders, such as autism spectrum disorders, schizophrenia, and bipolar disorder. Children get referred to him to investigate the possible genetic causes underlying these conditions. He uses the most advanced genetic diagnostic tests, and he makes sure to have enough time for each patient and family so to provide in-depth counseling and explanation of every step in the diagnostic process. As a geneticist, he is an advocate not only for the individual patient, but for the entire family.

Awards 
2010 Texas Children's Best and Most Complete Resident or Fellow
2011 Doris Duke Clinical Scientist Development Award 
2012 Chao Physician Scientist Award
2013 William K. Bowes Jr. Award in Medical Genetics
2014 Fulbright & Jaworski Faculty Excellence Award
2016 Donald Seldin~Holly Smith Award for Pioneering Research (American Society for Clinical Investigation)

Education
Baylor College of Medicine, Residency, Molecular & Human Genetics, 2010
Baylor College of Medicine, Residency, Pediatrics, 2009
Baylor College of Medicine, Internship, Internal Medicine/Pediatrics, 2007
University of Heidelberg, Medical School, Doctor of Medicine/Philosophy, 2005

Selected Publications
Wang X, Charng WL, Chen CA, Rosenfeld JA, Al Shamsi A, Al-Gazali L, McGuire M, Mew NA, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, Xia F, Plon SE, Lupski JR, Schaaf CP*, and Yang Y*
“Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations”
Nature Genetics. 2017 Apr;49(4):613-617. Pubmed PMID: 28288113
 
Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp C, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CMA, Mathijssen IG, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lweis S, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, STegmann A, Bok LA, Santen G*, and Schaaf CP*
“The phenotypic spectrum of Schaaf-Yang syndrome – 32 new affected individuals from 14 families”
Genetics in Medicine, 2017, Jan;19(1):45-52. Pubmed PMID: 27195816
 
Chen CA, Bosch DGM, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FPM, McKNight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BBA*, and Schaaf C*
„The expanding clinical phenotype of Bosch-Boonstra-Schaaf Optic Atrophy syndrome: 20 new cases, and possible genotype-phenotype correlations“
Genetics in Medicine, 2016, Nov;18(11):1143-1150. Pubmed PMID: 26986877
 
Hao YH, Fountain MD Jr, Fon Tacer K, Xia F, Bi W, Kang SH, Patel A, Rosenfeld JA, Le Caignec C, Isidor B, Krantz ID, Noon SE, Pfotenhauer JP, Morgan TM, Moran R, Pedersen RC, Saenz MS, Schaaf CP, Potts PR.
"USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder." Mol Cell. 2015 September 17;59(6):956-69. Pubmed PMID: 26365382 
 
Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. "Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism." Nat Genet. 2013 November;45(11):1405-8. Pubmed PMID: 24076603
 
Schaaf CP, Zoghbi HY. "Solving the autism puzzle a few pieces at a time.." Neuron. 2011 June 9;70(5):806-8. Pubmed PMID: 21658575
 
Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. "Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.." Hum. Mol. Genet.. 2011 September 1;20(17):3366-75. Pubmed PMID: 21624971
 
Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P. "A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.." Nat. Genet.. 2009 December;41(12):1269-71. Pubmed PMID: 19898479

MD, PhD, FACMG
Assistant Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US
Research Interests
  • Investigate the tumorigenic function and therapeutic targeting of cancer-testis antigens, including the MAGE protein family
  • Biochemical and molecular characterization of MAGE protein function in various cellular processes, including ubiquitination, endosomal trafficking and RNA stability
  • Physiological function of MAGE proteins in vivo using knockout animal models

Education
BS - University of North Carolina at Chapel Hill
PhD - UT Southwestern Medical Center

Selected Publications
Hao YH, Fountain Jr MD, Fon Tacer K, Bi W, Kang SL, Patel A, Rosenfeld JA, Le Caignec C, Isidor B, Krantz ID, Noon SE, Pfotenhauer JP, Morgan TM, Moran R, Pedersen RC, Saenz MS, Schaaf CP, Potts PR. USP7 haploinsufficiency causes a neurodevelopmental disorder due to defects in endosomal trafficking. Mol Cell 59:956-69, 2015.
Weon JL, Potts PR. The MAGE protein family and cancer. Curr Opin Cell Biol 37:1-8, 2015.

Pineda CT, Potts PR. Oncogenic MAGEA-TRIM28 ubiquitin ligase downregulates autophagy by ubiquitinating and degrading AMPK in cancer. Autophagy 11:844-6, 2015.

Pineda CT, Ramanathan S, Fon Tacer K, Weon JL, Potts MB, Ou YH, White MA, Potts PR.Degradation of AMPK by a Cancer-Specific Ubiquitin Ligase. Cell 160:715-28, 2015. Science Signaling Editor’s Choice and Current Biology Dispatch Highlight

Hao YH, Potts PR. Ubiquitin puts actin in its place. Molecular Cell 54:544-6, 2014.

Hao YH, Doyle JM, Ramanathan S, Gomez TS, Jia D, Xu M, Chen ZJ, Billadeau DD, Rosen MK, Potts PR. Regulation of Actin Polymerization and Retrograde Transport by Ubiquitination. Cell 152:1051-1064, 2013. Featured in Faculty of 1000
Wu N, Kong X, Ji Z, Zeng W, Potts PR, Yokomori K, Yu H. SCC1 sumoylation by MMS21 promotes sister chromatid recombination through counteracting Wapl. Genes Dev26:1473-85, 2012.

Ellis B, Potts PR, Porteus MH. Creating higher titer lentivirus using caffeine. Human Gene Therapy 22:93-100, 2011.
Doyle JM, Gao J, Wang J, Yang M, Potts PR. MAGE-RING complexes comprise a family of E3 ubiquitin ligases. Molecular Cell 39:963-974, 2010. Featured in News and Views, Faculty of 1000, and 2010 Science Signaling Breakthrough of the Year

Potts PR. The Yin and Yang of the MMS21-SMC5/6 SUMO ligase complex in homologous recombination. DNA Repair 8:499-506, 2009.

Potts PR, Yu H. Chromosome Formation. Wiley Ency Chem Biol 2008. DOI:10.1002/9780470048672.wecb650

Potts PR, Yu H. The SMC5/6 Complex Maintains Telomere Length in ALT Cancer Cells through Sumoylation of Telomere-Binding Proteins. Nat Struct Mol Biol 14:581-590, 2007. Featured News and Views article and as the cover article P. Ryan Potts CV – 01/12/16

Potts PR, Porteus MH, Yu H. Human SMC5/6 complex promotes sister chromatid homologous recombination by recruiting the SMC1/3 cohesin complex to double-strand breaks. EMBO J 25:3377-3388, 2006.

Potts PR, Yu H. Human MMS21/NSE2 is a SUMO ligase required for DNA repair. Mol Cell Biol 25:7021-7032, 2005.
Wright, K.M., Linhoff, M.W., Potts PR, Deshmukh M. Decreased apoptosome activity with neuronal differentiation sets the threshold for strict IAP regulation of apoptosis. J Cell Biol 167:303-313, 2004.

Olteanu A, Patel CN, Dedmon MM, Kennedy S, Linhoff MW, Minder CM, Potts PR, Deshmukh M, Pielak GJ. Stability and apoptotic activity of recombinant human cytochrome c. Biochem Biophys Res Commun 312:733-740, 2003.

Potts PR, Singh S, Knezek M, Thompson CB, Deshmukh M. Critical function of endogenous XIAP in regulating caspase activation during sympathetic neuronal apoptosis. J Cell Biol 163:789-799, 2003. Featured in News Section and in Faculty of 1000

USP7
Ryan Potts
PhD
Cell & Molecular Biology
St. Jude Children's Research Hospital

Memphis, TN, US
Advisory Board
USP7
Jeff Possick
Jeff is a Managing Director of MissionPoint Partners in Westport, CT.  MissionPoint is an impact investment manager and advisor focused on solving large-scale environmental and societal problems through the deployment of high impact capital. MissionPoint empowers a select group of families, foundations and institutions to achieve social change at scale while preserving rigorous financial oversight.  Jeff leads teams advising foundations and ultra-high net worth families on the deployment of both investment and philanthropic capital to help drive solutions to the problems of greatest interest to those clients.  Prior to joining MissionPoint at the time of its founding in 2006, Jeff worked for GE in its energy investment business and as an investment banker at Lehman Brothers.  Jeff holds a BA in Geology from Yale College, an MBA from the Yale School of Management and a Master of Environmental Management from the Yale School of Forestry and Environmental Studies.
Jon Pugh
Jon works in strategic business development at The Home Depot, where he develops corporate and business unit strategy and crafts partnerships that help The Home Depot better serve it's consumer and professional customers.  Prior to joining The Home Depot, Jon was a Principal at Bain & Company, focusing on supporting a range of retail, financial services, and private equity clients within the United States and Australia as they tackled their most difficult business challenges.  Jon received his Bachelor of Arts in Economics from Yale University and his MBA from the Darden School of Business at UVA.  He lives in Atlanta, GA with his wife Maggie and their children Cullen and Allie.
USP7
USP7
Maggie Pugh
Maggie has her MS in Molecular Biology and spent 10+ years in disease and drug research and development. She also spent 2+ years in clinical trial project management.

Maggie has enjoyed living in Virginia, Georgia and Australia.


She was an avid biker and biked across the country after college.

USP7
Ariadna Forray
Ariadna Forray, M.D. is an Assistant Professor of Psychiatry at Yale School of Medicine. She received her B.A. in neuroscience from Bryn Mawr and her M.D. from Harvard. Her research, clinical and educational activities are focused on the understanding and treatment of psychiatric and substance use disorders in unique and complex patient populations. One of her areas of expertise is in women’s mental health, and she is Co-Director of the Center for Wellness of Women and Mothers, a reproductive psychiatry research program. Her research focus is on the development of novel treatments for perinatal substance use, and she has been a principal investigator and co-investigator on several National Institutes of Health-funded grants. In 2012, she was recruited to be the Psychiatry Director of the newly developed Adult Sickle Cell Program at Yale New Haven Hospital, an interdisciplinary program to improve the care of adults living with sickle cell disease. As a result of this work she received the National Heart, Lung and Blood Institute PRIDE research fellowship in Functional and Applied Genomics of Blood Disorders in 2016. As part of her clinical work, Ariadna is an attending on the psychiatry consultation service at Yale New Haven Hospital.
USP7
D.J. McCrann
D.J. works at IDEXX Laboratories in the medical organization as a biostatistician senior manager. He leads a team that collaborates internally and externally to design and manage clinical studies, provides product performance support for the reference labs, and mines IDEXX medical data for medical insights. Prior to his current role, D.J. lead assay and platform development in R&D for a new in-clinic T4 thyroid test.  D.J. earned his BS from Yale University and his PhD in Cell and Molecular Biology from Boston University School of Medicine.  He did his post-doctoral studies at Maine Medical Center Research Institute prior to joining IDEXX.  D.J. lives with his wife Mary and their children Patrick and Maxwell in Falmouth, Maine.
Our Sister Organization

Located in Rouen, France, our sister organization is Manger La Vie.

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