The Hall of Fame includes researchers at universities, teaching hospitals, NIH and companies whose dedication and commitment have advanced knowledge of specific rare diseases and, in some cases, led to important new treatments for patients. Thank you for your nominations for 2013. There will be future opportunities to nominate additional researchers for Rare Disease Day 2014. Read more about the project.
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Abdul Ahmed, MDResearcher Institution: Center for Blistering Diseases Marc Yale: “He established a laboratory to study the pathogenesis of blistering diseases at Harvard, found the MHC Class II genes involved in enhanced susceptibility to disease in patients with pemphigus, pemphigoid, and dermatitis herpetiformis. He identified the molecules Beta and Alpha 6 integrins as target antigens in the pathogenesis of MMP and several key molecules involved in the fibrosis associated with this disease. He has pioneered the use and acceptance of IVIg and Rituximab for these conditions.” |
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Cem Akin, MD, PhDResearcher Institution: Brigham and Women’s Janis Dodge: “I suffer from Systemic Mastocytosis. The only positive aspect of the disease is the researchers and doctor’s that work with this disease. Their compassion and dedication are remarkable. Dr. Akin is the researcher behind the new Center of Excellence for Mastocytosis at Brigham and Women’s. He is tireless in his search to find a cause and a cure. My employer was donating $1000 to different causes. He drove over an hour at 6 in the morning to receive the funds and educate others on Masto!” |
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Robert Arceci, MD, PhDResearcher Institution: Phoenix Children’s Hospital & University of Arizona College of Medicine Translational Genomics Research Institute Katey O’Donnell: “Dr. Arceci is not only a brilliant doctor and scientist, but he has shown time after time that he truly cares about me. He has advocated for me, having an hour long conversation with a pain management doctor so that I could get relief from my constant pain. He has been consistent in quickly replying to my emails with professionalism and compassion. While I know that I am one of many patients, I know we’re all his priority. His discovery of an antibody for LCH is amazing! So is his new job in AZ!” |
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Alan Beggs, PhDResearcher Institution: Boston Childrens Hospital Alison Frase: “Alan Beggs is the founding Director of The Manton Center for Orphan DIsease Research at Boston Children’s Hospital and Harvard Medical School. His laboratory has worked for more than 20 years to discover the genetic basis of congenital myopathies, and to develop treatments for children with these conditions. Some of Alan’s many accomplishments include the discovery of numerous genes for nemaline myopathy, centronuclear myopathy and many other rare genetic conditions as well as follow up studies to understand how these genes cause disease. Working with the Joshua Frase Foundation and patients and families from around the world, Alan has published numerous studies focused on developing a treatment for myotubular myopathy. Alan’s tireless and collaborative efforts is leading our community for preparation for the first clinical trial for myotubular myopathy. His endeavors span from building a trans-Atalantic team of researchers to working with patients and their families to bring diagnosis and understanding to these rare disorders. We cannot thank Alan enough for all that he has done for our community!” |
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Barry Byrne, MD, PhDResearcher Institution: University of Florida Kathleen Boudreau:
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Ljubica Caldovic, PhDResearcher Institution: Children’s National Medical Center Hiroki Morizono from George Washington University: “Dr Caldovic discovered the elusive urea cycle gene NAGS. Defects in NAGS cause deadly elevation of ammonia in the blood. She sequenced the genes of patients with elevated ammonia who were not diagnosed with other urea cycle mutations, and showed for the first time that they had mutations in NAGS. She performed detailed biochemical characterization of the enzyme, and showed that a chemical, N-carbamylglutamate could rescue patients. Carbaglu is now FDA approved for treatment of NAGS deficiency” |
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Mariana Castells, MDResearcher Institution: Brigham and Women’s Hospital Bridget McGraw: “She’s one of the few immunology doctors studying Systemic Mastocytosis, something that is typically studied by hematologists. She has won many awards in the field of immunology and is lauded by her colleagues and peers, and deserves an award specifying her hard work in studying an orphan disease. Mastocytosis patients from all over the world come to see her for treatment & Doctors also come from all over to be her residents. She is also extremely kind, compassionate & reassuring” |
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Thomas Chelimsky, MDResearcher Institution: Medical College of Wisconsin Donald Crouse from the Multiple System Atrophy Coalition: “Dr. Chelimsky is devoted to research for multiple system atrophy, a rare neurodegenerative disorder affecting fewer than 50,000 Americans. In addition to his research he dedicates many hours of uncompensated time educating other physicians about MSA and has served on the Board of the multiple system atrophy Coalition for many years. He is the current President of the American Autonomic Society.” |
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Terry Chin, MDResearcher Institution: Miller Children’s Hospital Kristin Solis: “Dr. Chin rescued my son when no one else could. He was instrumental in diagnosing my sick son and getting him stable. He is a very intelligent, compassionate, man and a fantastic doctor. He thinks outside the box sometimes which is so very important when you are dealing with a rare disease and there isn’t much known. Dr. Chin fights for his patients, does everything he can to help not only the patient but their family as well. We would be lost without this amazing doctor and I thank God for him.” |
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Bart Clarke, MDResearcher Institution: Mayo Clinic Kimberly Liang from the Hypoparathyroidism Association: ” Dr. Clarke has not only been one of the pre-eminent researchers in hypoparathyroidism to date, but is also one of the most compassionate doctors I have been blessed to know and work with. I am forever grateful for his care of my post-surgical hypoparathyroidism, which is one of the very rare complications from thyroid surgery performed for thyroid cancer. He is committed not only to advancing research in this rare disease, but also to helping patients feel better despite the disease. “ |
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Joie DavisResearcher Institution: NIH – NIAID Janet Tolbert: “Joie has been wonderful in explaining things to me and my daughter, who has Hyper IgE syndrome, the best she can, even emailing me and my daughter a slide show showing how genes/DNA works specific to her syndrome. Joie answers any question we ask and is very into her job enjoying teaching us and others. I have her email on hand and don’t ever hesitate to email her any questions or concerns. She has been absolutely wonderful in the 7 years we have been going to the NIH.” |
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Brian Druker, MDResearcher Institution: Oregon Health and Science University Greg Stephens: “Dr. Brian Druker forever changed the course for anyone diagnosed with chronic myeloid leukemia (CML), taking a disease that once claimed the majority of those diagnosed w/in three to five years, transforming it into a disease in which most patients can live many years, anticipating a normal lifespan. His groundbreaking work has led him and others to the development of targeted therapies for a number of other cancers, helping many to live life in spite of their disease. So worthy of this honor!” |
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Brian G. M. Durie, MDResearcher Institution: Cedars-Sinai Medical Center (Attending Physician) E Michael D. Scott: “Dr. Durie has spent most of the past 40 years focused on improving the diagnosis and treatment of patients with multiple myleoma — from his initial development of the Durie-Salmon staging system through to the development of the International Myeloma Foundation (of which he is the chairman) and the International Myeloma Working Group. During that time, he has been involved in the coordination of multiple trials of new drugs for myeloma and the use of PET scanning in diagnosis and prognosis.” |
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Elizabeth (Betsy) Emerick, MS, RD, LNResearcher Institution: University of Maryland/Pediatrics/Genetics Jennifer Payne: “Elizabeth Emerick possesses unique qualifications, a command of PKU knowledge and experience that extends “above and beyond” the call to duty. Her contributions, dedication and commitment to specialized metabolic nutrition have resulted in exceptional direct patient care and make her a deserving candidate for recognition. She is a leader for future generations and has fulfilled a need for public health service to benefit many patients touched with rare, metabolic disorders. Thank you, Betsy.” |
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Daniel Furst, MDResearcher Institution: UCLA Julianna Shapiro from The Chronically Awesome Foundation: “I am a 43 year old chronic pain patient. I was able to see Dr. Furst after an email to him explaining all of my symptoms: joint pain, subluxing, a rather dramatic existence. Dr. Furst travels the world doing research on rare disease. His current project happens to be the only slightly less rare scleroderma, but his research has saved many lives. I felt fortunate that he could see me at his research and rehab facility at UCLA. He was able to dx my EDS in minutes. Something no one saw in 43 years.” |
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Michael Geschwind, MD, PhDResearcher Institution: UCSF Memory and Aging Center (MAC) Christy Brom: “‘We call CJD [Creutzfeldt-Jakob disease] the great mimicker because, particularly early on, it looks like a lot of other neurological or psychiatric diseases,’ says Dr. Michael Geschwind, Associate Professor of Neurology at the UCFS’s Memory and Aging Center (MAC). Dr. Geschwind’s primary research interest is the assessment and treatment of rapidly progressing dementias including prion diseases such as CJD. We have hope that Dr. Geschwind and his team at UCSF will unlock the mystery of CJD.” |
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Debbie Gipson, MDResearcher Institution: University of Michigan Marilyn Hailperin from the NephCure Foundation, “Dr. Gipson focuses on clinical trials and long-term outcome studies for children with nephrotic syndrome. Children, as she notes, are not small adults and science needs to find what works best for them. Her team seeks to understand the impact kidney disease has on brain function and on quality of life in children and adlescents. There are so few pediatric nephrologists in the US, we are so glad that Dr. Gipson seeks to validate and communicate rapidly best clincal care practices.” |
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Raphaela Goldbach-Mansky, MDResearcher Institution: The National Institutes of Health (NIH) Karen Durrant: “Dr. Goldbach-Mansky’s research of autoinflammatory diseases has helped many patients worldwide. She helped to discover, and find a treatment for DIRA (Deficiency of Interleukin-1 Antagonist) to save the lives of children that used to die before 6 yrs old from this disease. She also helped to classify CANDLE syndrome, and has a new drug in clinical trial to help that challenging disease. Her research with CAPS esp. NOMID helped to find a treatment that was granted FDA approval this year.” |
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Blair Grubb, MDResearcher Institution: University of Toledo Medical Center-Heart & Vascular Center Natalie Ramer: “Not only is he very well educated in Cardiology and Electrophysiology Services, but him and his team is willing to do whatever it takes to come to new medical treatments and to educate doctors within the United States and out of the country about rare vascular conditions and how they effect the human body and the symptoms to look for. Just when I was ready to give up all hope, Dr. Grubb and his team shine a new light on me and was able to give me answers to my rare disorder and a new blessings.” |
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Matthew J. Hamilton, MDResearcher Institution: Brigham and Women’s Hospital Thomas Flynn from Erica’s Walk for a Cure: “Dr Hamilton is one of the most sincere, caring and dedicated doctors I have been treated by. Dr Hamilton spends endless time in research and treating patients will Mast Cell Disease. Dr. Hamilton travels all over the country sharing research and speaking of Mast Cell Disease. He is devoted to finding treatment and finding a cure. His passion shows to all his patients as not only my self, but everyone who talks of him. We all share the same testimony his show of dedication, caring, sympathy.” |
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Ellen Hanson, PhDResearcher Institution: Children’s Hospital Boston, Harvard Medical School Julie Foxx: “Dr. Hanson and her team, as part of the Simons VIP study, have been working hard to understand the significance of the deletion/duplication, have been able to connect it to autism as well as autistic like behaviors, have been able to provide the families effected by this abnormality feedback on therapies, services and has even connected those families to share experiences, ideas and support.” |
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Susan Hayflick, MDResearcher Institution: Oregon Health and Science University (OHSU) Elena Herrero Hernandez: ” For her personal commitment and her outstanding medical and research skills that have obtained practical results in the fight against rare diseases, such as the identification of some of the genes involved in neurodegeneration with brain iron accumulation and related disorders. Identification of the causal genes is the first step towards a rational treatment of such disorders. “ |
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Karen Herbst, MD, PhDResearcher Institution: UCSD Tambra Momi, “Dr.Herbst is the most compassionate Dr. I have ever met. I had been through so many Dr.’s until she diagnosed me. She does more for this disease than anyone. It is such a painful disease and knowing she keeps on fighting for funding so she can find a cure or even a treatment. I live in excruciating pain every day and to know that Dr. Herbst is fighting for me and others with this rare disease is hope that I can go on. I’m not very good with words but, if you meet her you too would help her.” |
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Lawrence Holzman, MDResearcher Institution: University of Pennsylvania Marilyn Hailperin from the NephCure Foundation, “As chair of the scientific advisory board of the NephCure Foundation, Dr. Holzman has helped hundreds of patient families as a tireless crusader to engage more researchers and more funds to study rare glomerular diseases. He is a compassionate physician and a dedicated investigator whose lab has published seminal work on the intercellular junctions of the podocyte, a specialized epithelial cell critical to healthy kidney function that is damaged in patients with FSGS and nephrotic syndrome.” |
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Emil Kakkis, MD, PhDResearcher Institution: Ultragenyx Pharmaceuticals Inc, EveryLife Foundation, and Founder of BioMarin Pharmaceuticals Stephanie Bozarth from the National MPS Society: “Dr. Kakkis is known for his work over the last 20 years to develop novel treatments for rare disorders. He began his work with minimal funding to develop an enzyme replacement therapy for the rare disorder MPS I. Kakkis founded the Kakkis EveryLife Foundation to accelerate biotech innovation for rare diseases. The Foundation initiated the CureTheProcess Campaign dedicated to improving the regulatory and clinical development process for rare diseases. MPS VI, MPS IV, PKU treatment development.” |
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Fredrick Kaplan, MDResearcher Institution: University of Pennsylvania Rita Bartholomew: “Before FOP became widespread and well known, Dr. Kaplan began working with my brother Jody in the 1970s. Dr. Kaplan (Fred) quickly became a close friend of our family. He would make “house calls” to check on Jody and always inspired us with his reassurance that we were not alone and that he was doing all that he could to find out the cause of the disease as well as a cure. Over 25 years later, Fred successfully isolated the gene that causes the disease and continues to strive for a cure.” |
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Pratima Karnik, PhDResearcher Institution: Case Western Reserve University Victoria Ceh, MPA from the Cicatricial Alopecia Research Foundation (CARF): ” Landmark research from Dr. Karnik identified a master regulator in cicatricial alopecias (CA) called PPAR-γ that is decreased in affected scalp tissue. Decreased PPAR-γ results in buildup of toxic lipids that cause inflammation & scarring. These findings provide the rationale for using pioglitazone as the 1st specific treatment for some CA disorders. This discovery is a huge milestone & lays the groundwork for future research to understand the environmental & genetic factors responsible for CA. |
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James Loyd, MDResearcher Institution: Vanderbilt Rebecca Baker: “He is the leading physician when it comes to knowledge of fibrosing mediastinits and treating patients who have this rare lung disease.” |
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James Lupski, MD, PhDResearcher Institution: Baylor College of Medicine, Houston Julie Smith-Centeno: “Dr. Lupski and his lab have been in the forefront of research on Dup.17p11.2, now called Potocki-Lupski Syndrome. As the mother of the 4th child diagnosed, and the first child to go through the week long study protocol, I have to say that it was Dr. Lupski who sat down with me and explained to me the duplication and the findings in a very clear and simplified manner. He continued to take the data and come up with the findings that have been published for other healthcare providers. Proud of him!” |
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Vincent Martin, MDResearcher Institution: University of Cincinnati |
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Kenneth McClain, MD, PhDResearcher Institution: Texas Children’s Hospital Theresa Born: “Dr. McClain is making strides in the research and treatment of children and adults with Langerhans Cell Histiocytosis. Not only does he spend much time focusing on the research but he also treats children and adults, consults on any case that contacts him and responds to parents and patients who cantact him by email or phone within 24 hours with information needed to access the best possible treatments. Dr. McClain has worked with any doctor who contacts him for help with patients.” |
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Deborah Merke, MD, MSResearcher Institution: National Institutes of Health Lauren Blanke: “Because she took my daughter in to help her when no other doctor could or would. My daughter was having Intracranial Hypertension due to an abnormality I her care. Dr. MERKE and Carol VanRyzin flew us from Louisiana to Maryland to help us. My daughter and I are so grateful!” |
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Albee Messing, VMD, PhDResearcher Institution: University of Wisconsin Deb Hughes: “Dr Messing was an integral part of figuring out GFAP – which gives us parents a way to confirm Alexanders Disease. Dr. Messing is continuing his research on how to slow down GFAP, which will allow the Fatal Disease, to not take our precious family members so quickly. He makes himself readily available to answer questions regarding the disease – without making us feel we are taking time away from his personal life. (IE- he called me on a Sunday to answer my questions) |
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Emmanuel Mignot, MD, PhDResearcher Institution: Stanford Center for Sleep Sciences Julie Fain: “To the Narcolepsy community, Dr. Emmanuel Mignot is a god. Internationally recognized for discovering hypocretin deficiency as the cause of Narcolepsy, he is dedicated to his work and has given hope for a possible cure to every person living with Narcolepsy. Under his direction, the Center for Narcolepsy has made huge advancements in understanding Narcolepsy and Cataplexy, such as the association of Narcolepsy with a particular human gene and identifying the neurons involved in this disorder.” |
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Joseph Muenzer, MD, PhDResearcher Institution: Department of Pediatrics at the University of North Carolina at Chapel Hill Julia Queen: “After 13-years of searching for answers, genetic testing confirmed my son’s diagnosis of Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. Dr. Muenzer at UNC Chapel Hill said Trevor is the 1st confirmed case in the US & the 21st worldwide. Trevor was also, diagnosed with Ehlers Danlos Syndrome, a 2nd rare disease & carries an unconfirmed diagnosis of Pyridoxine Dependent Epilepsy. Acknowledging Dr. Muenzer’s breakthrough in diagnosing Trevor’s rare disease will raise public awareness.” |
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Anne Louise Oaklander, MD, PhDResearcher Institution: Harvard/Massachusetts General Hospital Reta Honey Hiers from the Tarlov Cyst Disease Foundation: “While Dr. Oaklander is best known for her important contributions in our understanding of neuropathic pain, she is the first researcher funded for Tarlov/perineural cyst research. Her tireless efforts to learn more about the epidemiology, pathophysiology and symptomatology of this diagnosis are leading to improved recognition and understanding in the medical community world-wide. She is changing the future for those who are diagnosed with Tarlov cysts.” |
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Dr. Karel Pacak MD, PhD, D.ScResearcher Institution: National Institute of Health in Bethesda, MD Dilek Debose: “I’d like to nominate Dr. Pacak and his team. if it wasn’t for him and his team I would have lost hope for a cure for my husbands disease. When he was diagnosed with Paraganglioma we were informed that it was malignant, that there is no standard treatment for it and that they are unsure of how to proceed. We were referred to Dr. Pacak approx. 4 years ago. His team has been diligently working on finding a cure and have been treating my husband with success. Thank you so much for all you do!” |
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David Robertson, MDResearcher Institution: Vanderbilt Donald Crouse from the Multiple System Atrophy Coalition: “Dr. Robertson has spent his career researching rare dysautonomias and has set up one of the few dysautonomia research centers in the country. Dr. Robertson has an incredible bed side manner and truly cares for the patient and caregiver. He is considered a leading expert on dysautonomia by his peers (both nationally and globally.) In addition Dr. Robertson has served on the board of the SDS/MSA Support Group (now the multiple system atrophy Coalition) for 20+ years.” |
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Akiko Shimamura, MD, PhDResearcher Institution: Fred Hutchison Cancer Care Center Blair Van Brunt: “Since 2002, Dr. Akiko Shimamura has made in incredible difference in the lives of all SDS patients. She was the principal organizer of the SDS Scientific Congress, Boston, 2007; is currently the Principal Investigator for the SDS Registry since 2008; principal investigator for numerous SDS research projects including new bone marrow transplant regimens and cutting edge research determining the gene function. She does it all with grace, genius and gusto.” |
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Eileen Shore, PhDResearcher Institution: University of Pennsylvania Mary Ann Keenan, MD: “Dr. Shore has dedicated her professional career to the study of the cause of Fibrodysplasia Ossificans Progressiva (FOP). This devastating disease is rare. It causes explosive bone growth throughout the body causing a person to freeze in position with resulting pain, disability and very early death. Dr. Shore was able to identify the genetic mutation responsible for causing this disease. She and her colleague, Dr. Frederick Kaplan, are now working to identify possible treatment strategies.” |
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Richard Smith, MDResearcher Institution: University of Iowa Hospitals and Clinics (UIHC) Jenna Smith, Graduate Student, Daughter and Biggest Fan! “Dr. Richard Smith is not just a phenomenal person, friend, doctor, clinician, scientist and teacher, but also the best dad I could ever ask for. I am one of four children in the Smith/Lanning house-hold and was unfortunately diagnosed with DDD at 6. 21 years since, he has worked and researched to find a cure. He not only focuses on research for my benefit, but as an Oto pediatrician, he helps many people. He gives what he can offer so others can benefit and have the chance to live an easier life.” |
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Theoharis Theoharides, MD, PhDResearcher Institution: Tufts University, Boston, MA Valerie M. Slee, Chair, The Mastocytosis Society, Inc.: “Dr. Theo is a compassionate, caring physician who is dedicated to patients with mast cell disorders worldwide, as well as children and adults with autism. He is a brilliant and creative researcher who was years ahead of his peers in recognizing that mast cells play an essential role in many disorders in addition to mast cell disorders. He is readily available, and our members and potential members love him!” |
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Jakub Tolar, MD, PhDResearcher Institution: University of Minnesota Christie Zink from the Pioneering Unique Cures for Kids, “Doctor Jakub Tolar is leading the research to cure EB and above that, he is one of the most inspiring people I have ever known. He is compassionate & dedicated to providing hope to those who suffer. This goes far beyond doing a job, this is his life’s work, his passion. Dr. Tolar is continuously striving to make life better for these kids despite the challenges & setbacks. Because of this dedication, tremendous strides are being made and each new day brings them closer to finding a cure.” |
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Diego Torres-Russotto, MDResearcher Institution: University of Nebraska Medical Center Gloria MacWright from orthostatictremor.org, “Dr Diego Torres-Russotto is both caring and compassionate, and has worked with tireless dedication to understand the mystery of Orthostatic Tremor. This past year, the first part of the largest study on OT began in Omaha, Nebraska. A team of 15 people from the University of Nebraska Medical Center headed by Dr. Torres volunteered their time to study a group of OT patients that traveled to UNMC. For his dedication to research this rare disorder, we are alll extremely grateful to Dr. Torres.” |
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Fumi Urano MD, PhDResearcher Institution: Washington University School of Medicine Jon Wasson: “Dr. Urano’s inspirational energy and intellectual insights into WS research are unmatched. His exciting work in the cellular and molecular aspects of WS complements the human interdisciplinary studies that are ongoing here and internationally. His lab has established five different animal models of WS and these animals are being used to test the efficacy of candidate drugs using four different screening methods also developed in his lab.” |
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Mary Lee Vance, MDResearcher Institution: UVA Medical Center John Danello, “Dr. Vance and her team saved my life with diagnosis and surgery. She is truly a leader in her field.” |
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Charles Venditti, MD, PhDResearcher Institution: The National Institutes of Health Melanie Wiseman: “Dr. Charles Venditti has been an advocate for my daughter Ayla since she was born. Ayla has MMA mut 0 disorder. Dr. V has ALWAYS been a support for us, even before his research started. He is always available to return calls and emails when we are concerned or have questions. He is one of the most caring people I have ever met. He is our angel. His bedside manner along with his intelligence that blows you away, make him the perfect candidate.” |
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David Weinstein, MD, MMScResearcher Institution: University of Florida Heather Edwards: “Doctor David Weinstein is truly a hero in the Glycogen Storage Disease community. He has championed finding a cure and helping those with GSD live the best life possible. He works countless hours often for free. Without his medical expertise I personally, wouldn’t have been able to give birth to my daughter. Living with Glycogen Storage Disease all your life is not easy, but having Dr. Weinstein in our lives caring about our well-being and health makes the journey a little bit easier” |
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Gregor Wenning, MD, PhDResearcher Institution: Division of Clinical Neurobiology, Medical University Innsbruck Pam Bower from Multiple System Atrophy Awareness, “Prof Wenning is dedicated to unravelling the mysteries of MSA while establishing collaborative networks with MSA researchers around the globe, beginning with the European MSA Study Group in 1999. He’s published more than 200 papers on MSA and related parkinsonian disorders and currently heads the only research lab in the world devoted exclusively to MSA. He also devotes time to personalized care of MSA patients and offers expert advice via the Ask Prof Wenning feature on MSAawareness.org.” |
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Karen K. Winer, MDResearcher Institution: The National Institutes of Health James Sanders from the Hypoparathyroidism Associaton, Inc.: “Dr. Karen K. Winer pioneered the use of synthetic human parathyroid hormone, PTH(1-34), with her research and clinical studies begun in the early 1990′s. Her pioneering research proved the efficacy of PTH(1-34) to treat hypoparathyroidism, the last of the endocrine system glands to have a hormone replacement regime. Her work has helped establish the ground work for medical research and to a greater understanding of this rare medical disorder. She laid the foundation for work being done today.” |
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Huda Zoghbi, MDResearcher Institution: Baylor College of Medicine Monica Coenraads from the Rett Syndrome Research Trust: “Dr. Huda Y. Zoghbi is an internationally renowned physician-scientist and a central figure in the Rett Syndrome research field. She began her career as a pediatric neurologist, but a chance encounter with a young child with a strange constellation of symptoms drew her from clinical practice into the world of genetics research. In 1999, after a 16-year search, she identified mutations in the MECP2 gene as the cause of Rett Syndrome. “ |