HPS Brotherhood makes plans for 2017-2018

The HPS Brotherhood – a group of men who are supporting or caring for a loved one with HPS – met for the second time at the 24th Annual HPS Network Conference. “We had 18 men there. They were husbands, brothers, boyfriends, sons – it doesn’t matter. It was just great to have such a good turnout of men looking for a way to get involved and support someone with HPS,” said Anthony Creer, founder of the HPS Brotherhood.

The group agreed to set the goal of raising the nearly $20,000 it takes to host the HPS Conference Saturday night dinner in 2018. “We want the Network to spend that money on something else next year, like bringing doctors to the Meeting of the Minds research meeting, or funding research,” said Creer, “If each of us there raises $1,000 in the next year, we can meet that goal.” To kick off the year, the group passed the hat among themselves and raised $301.

Creer founded the HPS Brotherhood last year out of recognition that men support each other differently than women. He wanted to create a space where men could get to know each other, help one another, and get involved in the HPS community to be a part of the solution.

If you are interested in being a part of the HPS Brotherhood, message Anthony Creer on Facebook, or call him at: (813) 373-3294.  If you’d like to make a donation to support the Brotherhood’s 2018 conference goal, Creer asks that you make the check out to the HPS Network and put Brotherhood in the memo line. Donations can be sent to: HPS Network, One South Road, Oyster Bay, NY 11771.

So you think you’d never use a cane – Presentation about orientation and mobility

Some people with visual impairments assume they would never benefit from using a white cane, or from orientation and mobility instruction, because they do have a fair amount of functional vision. Mike Desposati, an Orientation and Mobility Instructor from Helen Keller Services for the Blind, will give an introductory session on various uses for a white cane or orientation and mobility instruction, Saturday afternoon, March 11, at the 24th Annual HPS Network Conference.

Sometimes white canes are used to detect obstacles or uneven surfaces, and for some, they are simply used as a way to identify a visual impairment to the general public. Orientation and mobility instruction is about much more than using a white cane or learning key routes around the neighborhood.

Mike Desposati has served, and professionally worked in, the field of visual impairment for more than 20 years. He is also on the faculty of Hunter College where he teaches students training to become teachers of the visually impaired or orientation and mobility instructors.

Dr. Roman to update the HPS community about HPS clinics in Puerto Rico

Dr. Jesse Roman will speak to the HPS community on Sunday, March 12th at the 24th Annual HPS Network Conference and provide an update about the progress of recently established clinics to serve people with Hermansky-Pudlak Syndrome in Puerto Rico. He will update us on what has happened thus far, what the plans are for the future and how the HPS community can best support these efforts.

Dr. Jesse Roman is a Professor of Medicine, Pharmacology and Toxicology at the University Of Louisville School Of Medicine. He is also Chairman of the Department of Medicine, Chief of the Division of Pulmonary, Critical Care and Sleep Disorders Medicine and a Distinguished University Scholar. Dr. Roman has taken on helping patients with Hermansky-Pudlak Syndrome as a personal cause. He lead the way by reaching out to contacts and partners in Puerto Rico to establish a clinic for patients with HPS in Puerto Rico. He is originally from Puerto Rico, where he attended medical school at the University of Puerto Rico and did his residency at San Juan Veterans Affairs Medical Center. He also completed a fellowship at Washington University.

Dr. Young to present an update on HPS involvement in the Rare Lung Disease Consortium

Dr. Lisa Young from Vanderbilt University will give a presentation updating the Hermansky-Pudlak Syndrome community about HPS involvement in the Rare Lung Disease Consortium at the 24th Annual HPS Network Conference, to be held March 10 – 12, at the Long Island Marriott in Uniondale, N.Y,

Lisa Young, M.D., is a physician-scientist focusing on research in genetic and interstitial lung diseases (ILD). Dr. Young’s research lab utilizes both laboratory-based and patient-oriented research approaches to study interstitial lung diseases and other rare lung diseases in both adults and children.

Her lab’s primary interest is in the role of the alveolar epithelium and alveolar macrophages in the regulation of pulmonary inflammation and fibrosis. The lab utilizes genetic mouse models to understand the cell biology and mechanisms of ILD pathogenesis. It also maintains a longitudinal research cohort of children with ILD and other rare lung diseases.

One of her lab’s projects is the study of the mechanisms of Pulmonary Fibrosis in Hermansky-Pudlak Syndrome (HPS) Her lab’s studies utilize mouse models to understand what causes pulmonary fibrosis in HPS and how new therapies might be developed. The hypothesis is that HPS trafficking defects in alveolar epithelial cells result in increased reactive oxygen species production and enhanced secretion of mediators, which recruit and activate alveolar macrophages in the local microenvironment. The lab also studies how these mechanisms apply to other more common forms of ILD.

Kevin O’Brien to present the basics of living with HPS at HPS Conference

Kevin O’Brien, Associate Investigator for the HPS protocols at the National Institutes of Health, will present “HPS 101” at the 24th Annual HPS Network Conference, to be held March 10 – 12, at the Long Island Marriott in Uniondale, NY. Thjs is a perfect session for anyone new to living with HPS, or for anyone who needs a refresher. Kevin is also happy to answer questions about HPS one-on-one throughout the conference.

Kevin O’Brien, RN, MS, CRNP, is the associate investigator for the HPS protocols at the National Institutes of Health. He’s an adult internal medicine nurse practitioner. Those of us who have been in his care know that he has a reputation for being compassionate, thorough and for giving you any news he has straight up. Kevin cares for adults with HPS at the NIH and was a key participant in the Phase III drug trial of Pirfenidone to treat the pulmonary fibrosis of HPS. He’s also a proud husband and father.


Dr. Merideth to present on women’s health issues related to Hermansky-Pudlak Syndrome at the 2017 HPS Network Conference

Dr. Melissa Merideth will meet with those interested in learning more about how women’s health issues are impacted by Hermansky-Pudlak Syndrome at the 24th Annual HPS Network Conference, to be held March 10 – 12, at the Long Island Marriott in Uniondale, N.Y. Her session will be held Saturday afternoon, March 11.

Dr. Merideth has seen well more than 100 women with HPS at NIH. A genetics researcher at the National Institutes of Health, Dr. Merideth is board certified in Obstetrics/Gynecology, Clinical Genetics and Biochemical Genetics.  Dr. Merideth finished her ob/gyn residency at the Mayo Clinic in 2001, and after practicing in Arizona for two years, headed to the NIH in 2003, where she completed fellowships in Clinical and Biochemical Genetics. She works as a gynecologist and geneticist for the NIH Intramural Office of Rare Diseases at the National Human Genome Research Institute. She is also an HPS Network Doctor of the Year.


Dr. Gahl to present an overview of HPS research at the 24th Annual HPS Network Conference

Dr. William Gahl will present an overview and update of research on Hermansky-Pudlak Syndrome at the 24th Annual HPS Network Conference, to be held March 10 – 12 at the Long Island Marriott in Uniondale, NY. Dr. Gahl’s presentation will be the morning of March 12th.

Dr. Gahl is the primary investigator of Hermansky-Pudlak Syndrome at the National Institutes of Health. He is also the Clinical Director of the National Human Genome Research Institute, Head of the Undiagnosed Disease Program and Senior Investigator for the Medical Genetics Branch. He has worked on unraveling the mysteries of HPS for more than 22 years. His lab has documented the natural history of HPS as well as conducted several drug trials to try to treat the pulmonary fibrosis of HPS.

Dr. Gahl earned his B.S. in biology from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of Wisconsin in 1976. He obtained a Ph.D. degree in oncology research from Wisconsin’s McArdle Laboratories for Cancer Research in 1981 and served as pediatric resident and chief resident at the University of Wisconsin hospitals from 1976-80. In 1984, he completed clinical genetics and clinical biochemical genetics fellowships at the NIH’s Interinstitute Medical Genetics Training Program, which he directed from 1989 to 1994. Dr. Gahl’s research has focused on the natural history of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane transporters that carry cystine and sialic acid, respectively, out of the lysosome.

Dr. Gahl also demonstrated effective therapy for nephropathic cystinosis, bringing cysteamine to new drug approval by the Food and Drug Administration. His group described the natural history of Lowe syndrome, alkaptonuria, autosomal recessive polycystic kidney disease, Chediak-Higashi disease, GNE myopathy, and Hermansky-Pudlak syndrome (HPS), a disorder of oculocutaneous albinism, bleeding, and pulmonary fibrosis. His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to deficiency of CD73, 3-methylglutaconic aciduria type III, 3 types of HPS, and neutropenia due to VPS45 deficiency. He has published more than 350 peer-reviewed papers and trained 36 biochemical geneticists. He established American Board of Medical Specialties certification for medical biochemical genetics. He served one the board of directors of the ABMG, as president of the Society for Inherited Metabolic Disorders, and was elected to the American Society for Clinical Investigation and the Association of American Physicians.

Dr. Gahl received the Dr. Nathan Davis Award for Outstanding Government Service from the AMA, the Service to America Medal in Science and the Environment, and was recognized as a Doctor of the Year by the Hermansky-Pudlak Syndrome Network. He has also received other numerous awards.


Dr. Cohen will present about the GI complications of Hermansky-Pudlak Syndrome at the HPS Network Conference

Dr. Louis Cohen will give a presentation on the gastrointestinal complications of Hermansky-Pudlak Syndrome (HPS) at the 24th Annual HPS Network Conference on March 12, 2017, at the Long Island Marriott in Uniondale, NY.

Dr. Cohen is an Assistant Professor and practicing gastroenterologist in the Department of Medicine, Division of Gastroenterology at Mount Sinai St. Luke’s, Mount Sinai West and The Mount Sinai Hospital. He is board certified in Internal Medicine and Gastroenterology. His clinical interests focus on patients with inflammatory bowel disease and other inflammatory disorders of the bowel.  He is a scientific advisor to the Hermansky Pudlak Syndrome Network to aid in the clinical care of patients with Hermansky Pudlak Syndrome throughout the US.

In addition to his medical degree, Dr. Cohen has a Masters in Translation Research from The Rockefeller University, in New York City where he studied in the laboratory of Dr. Sean Brady.

Dr. Cohen is an NIH-funded researcher whose basic science focus is on host-microbial interactions.  His current clinical research trials can be found at http://icahn.mssm.edu/research-portal/clinical-trials and include a trial on the use of autologous stem cell transplant for the treatment of Crohn’s disease.  His research has been published in a multitude of peer-reviewed journals and books and he is an internally and nationally invited lecturer and presenter.

Respiratory therapists to teach harmonica therapy at HPS Network Conference

Respiratory therapists at Holy Name Medical Center are using harmonicas to help patients with chronic lung diseases breathe better. They will attend the HPS Network Conference on Saturday, March 11th, and offer a short course on how to use playing the harmonica to keep lungs healthy. It isn’t necessary to have very sick lungs to benefit or to attend the session. Session participants will be given their own harmonica to take home and continue to use. Seats in this session are available on a first come, first serve basis.

Mother’s Workshop planned for this year’s HPS Conference

Mothers with children that have Hermansky-Pudlak Syndrome will be able to network with each other and learn how to handle the common issues that come up raising a child with HPS at the 24th Annual HPS Network Conference, to be held March 10 – 12, at the Long Island Marriott in Uniondale, NY. The workshop will be held March 10, from 2:00 pm to 6:00 pm. Friday is always an arrival day at the HPS Conference, so if you can’t make it by 2:00 pm then join the workshop when you arrive.

The workshop will consist of a presentation and small group discussion on the unique journey of parents raising a child with HPS. The presentation will outline the common stages parents experience while adapting to raising their child, and provide strategies and tools for parents and their families. The facilitated discussion will create an environment where parents with similar experiences will be able to learn and support one another. This time will be used to strengthen our power as mothers and open our minds and hearts so we can absorb all of the information that will be presented to us over this weekend.

The workshop is being provided to the HPS Network and community free of charge by Building Parent Connections. Sheila Adamo, LCSW, CADC will facilitate the presentation and discussion. Sheila is a Licensed Clinical Social Worker with an additional certification in Alcohol and Drug Abuse Counseling. She facilitates Mothers’ Workshops, discussion groups and teleconferences for parents of children with special needs. Sheila and her husband are raising 4 children, one of whom has albinism. She currently leads the New Parent Program for the National Organization of Albinism and Hypopigmentation, which includes a Parent Connections Program sponsored by The Lighthouse Guild International that offers support to parents via teleconference meetings. (The Lighthouse currently offers the same program for parents of those with Hermansky-Pudlak Syndrome too.) Ms. Adamo has worked with many different populations in the mental health field. Her passion is working with parents to help them find the tools they need to be successful.

Building Parent Connection’s mission is to help parents build a strong authentic connection to themselves and others while raising a child with special needs. Building Parent Connections believes that providing consistent support, education and guidance throughout parenthood will empower parents to be stronger, happier and healthier individuals and parents.


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