We have begun the federal fiscal 1998 budget year as of October 1, 1997. With this cycle, the MARHGN grant has received continued funding at its noncompetitive review, receiving creditable scores in all areas. The award was reduced by $20,000 as were all of the federally funded regional networks. This will mean continued tightening of our budget-particularly, in the area of travel and meetings in order to maintain our managed care initiative, commitment to data collection and subcontracts. I am confident that we can do this with our current budget award.
As you all are aware, Gail Chiarello has left the MARHGN area and has relocated in Seattle. Gail has been the MARHGN coordinator for the past eight years and has provided thoughtfulness, untiring energy, innovation and stability to our MARHGN activities. The centralization of the MARHGN office at the Family Planning Council in Philadelphia has been the major reason for our continued effectiveness and efficiencies in coordinating activities. Gail will be deeply missed, and on a personal level as well as on behalf of the MARHGN membership, I wish her every success in her future endeavors. Gail swears she will remain in touch--and we intend to continue using her expertise and good thoughts in pushing forward our MARHGN agenda.
With the departure of Gail, we have relocated the MARHGN office to the Center for Human and Molecular Genetics on the campus of the New Jersey Medical School in Newark. I am extremely proud to announce that Gisela Rodriguez, MSW has agreed to assume the role of MARHGN Coordinator through the remainder of my term as president. Gisela is an outstanding educator and activist in bringing genetics to underserved and culturally diverse populations serving as the coordinator for our MCHB grants in these areas as well as coordinating our outreach activities at the New Jersey Medical School. She brings excellent organizational skills, diligence, savvy and an ease in communication and interpersonal relationships to our activities. I know that you will enjoy working with her as I have over the past 10 years.
Other changes that are occurring:
Please make note of our new MARHGN address:
Gisela Rodriguez, M.S.W., MARHGN Office
- Michelle Puryear, MD, PhD has assumed the position of Chief of the Genetic Services Branch of the Health Resources and Services Administration / Maternal and Child Health Bureau replacing Dr. Jane Lin-Fu, who has retired as of November 1, 1997. Also, John Gallicchio, formerly Deputy Chief of the Branch, is now Deputy Director, Division of Service for Children with Special Health Needs, and Claudette Mitchell, formerly the Branch's Public Health Analyst, has assumed a position with the Bureau's Division of Health Start. Both have been extremely helpful and supportive in advancing our MARHGN initiatives. I consider them dear friends and wish them continued success.
- In MARHGN: Dr. Frank Shafer will be Chair of the Sickle Cell / Hemoglobinopathies Committee.
- Dr. Keene Harrison has assumed the Chair of the Laboratory Interest Group (formerly known as the Quality Assurance-Laboratory Committee). Our deep appreciation is extended to Sonya Ross and Jeanne Thomas for their important contributions and leadership of these committees.
- Applications are being solicited for the MARHGN Education and Research Awards for FY98-99. By now, all MARHGN associated institutions should have received announcements concerning this program. These initiatives should focus on collaborative applications dealing with either: Outcome-based research on genetic risk analysis and counseling or Genetic center partnership with primary care providers in meeting the needs of families dealing with a genetic condition. DEADLINE: Dec. 15, 1997 for funding 10/1/98 to 9/30/99
c/o Center for Human & Molecular Genetics, UMDNJ - N.J. Medical School,
90 Bergen Street, Suite 5400, Newark, NJ 07103-2499
Phone: 973-972-0862; Fax: 973-972-0861&; e-mail: email@example.com
Assistant coordinator: Carol Brown-Jackson 973-972-0863
This promises to be an exciting and eventful year. The Genetic Services Branch is particularly excited about our managed care project and sees this as a potential model that can be expanded throughout other networks. We are indeed at the margin of innovation. Our best regards to all for the Holiday Season and a wonderful New Year!
Franklin Desposito, MD
- University of Pittsburgh's Department of Human Genetics has two new faculty members: June A. Peters, MS, newly arrived from the NIH - Johns Hopkins University. She brings her enormous experience, especially in colorectal cancer genetics, and will see families and conduct research in the clinical genetics of cancer. Moving north from Emory University, Eleanor Feingold, PhD, adds to our strength in quantitative (statistical) genetics, begun in 1951 by C.C. Li. Dr. Li vigorously celebrated his 85th birthday and won the Best Paper Award for 1996 in Human Biology.
- Supported by the PA Department of Health, University of Pittsburgh genetic counselors Betsy Gettig and Laura Rittmeyer conducted their annual Genetics Update seminars this Fall in Harrisburg, Wiles-Barre, Pittsburgh, and Philadelphia, for the Family Planning Council network of clinics. They also teamed up with genetic counselor Michael Banke and John J. Mulvihill, medical geneticist, to write a series, "Genetics for the Practitioner" for Pennsylvania Medicine. The first piece, "What is a Gene?" appeared in the Sept. 1997 issue.
- Dr. Mulvihill, with project manager Kara Milliron, spearheaded an NCI grant-funded program on Cancer Genetics for Oncologists. Pitt's Cancer Genetics Program has teamed up with Dr. John A. Barranger's Center for the Study and Treatment of Jewish Genetic Diseases and his Gaucher Disease Diagnosis and Treatment Center to conduct a community awareness program, "The Genetics Education and Counseling Program", especially among the Jewish population of western PA. Project manager and genetic counselor Michael Banke has a website for it: http://www.pitt.edu/~edugene.
- On September 13, 1997, the Department of Human Genetics cosponsored the Genetics and Human Diversity Symposium, along with our Center for Minority Health and the Sickle Cell Society. Coordinated in part by Dr. Al Bahnson, the program was aimed at minority high school students, with University of Maryland anthropologist Dr. Fatima Jackson as the inspiring keynoter.
- Brenda Finucane, MS, Director of Genetic Services at Elwyn, Inc., has written a manual on counseling women with mental retardation. The publication is the end result of a project funded in part by the Jane Engelberg Memorial Fellowship, an award of the National Society of Genetic Counselors, and will be distributed in the near future to all NSGC members.
- Brenda is also collaborating with Virginia Speare, PhD and Natalie Blagowidow, MD at nearby Crozer-Chester Medical Center to conduct a pilot study on fragile X carrier testing. Over the next two years, all pregnant women seen for reproductive genetic services at Crozer-Chester and its affiliates will be offered fragile X carrier testing, regardless of the original referral indication. Genzyme Genetics is donating laboratory services for this project. For more information on this subject, contact Brenda Finucane for a reprint of her article, "Should all pregnant women be offered carrier testing for fragile X syndrome?" Clin Ob Gynec (1996).
- At The Children's Hospital of Philadelphia (CHOP), Dr. Ian Krantz and Lynn Bason, MS have started a Genetics of Hearing Loss Clinic. They hope to help families answer their questions about the etiology and recurrence of deafness. Families will also be offered the opportunity to participate in research studies.
- CHOP is gaining ever increasing recognition for its involvement with patients who have a 22q11.2 deletion (velocardiofacial syndrome, DiGeorge syndrome etc.). Individuals with the deletion come to CHOP from great distances to receive a multidisciplinary evaluation which includes genetics, speech, cleft palate team, cardiology, development, psychology, neurology, immunology, orthopedics, ophthalmology, and other disciplines. Two genetic counselors, Kimberly Grace, MS and Donna McDonald McGinn, MS, coordinate the patient care. In addition to medical services, parent/professional meetings are held twice each year, and an informative newsletter, entitled 22q and You, is published quarterly. For further information, contact Kim or Donna at (215) 590-2920.
- Katy Hoess, MS, who started working at CHOP in June, divides her time between two research studies on the genetics of multifactorial disorders. One project is part of the Special Center of Research on the Genetic Basis of Conotruncal Malformations, an ongoing study of the genetic basis of congenital heart defects. Patients recruited into this study are tested for the 22q deletion, known to be associated with certain congenital heart defects. The other project involves the establishment of the Spina Bifida Research Resource (SBRR), a database and DNA bank. The SBRR will be made available to researchers investigating the causes of spina bifida. For both studies, Katy recruits patients and their families, arranges for the collection of samples, obtains family histories, and provides follow-up on testing results.
- News from Children's National Medical Center in DC includes the addition of pediatric geneticist, Dr. Kelly Przylepa, this past July. Kelly has a special interest in skeletal dysplasia and is a medical consultant for the Little People of America. She is currently conducting a study on Moebius syndrome.
- This is the second year for our Down Syndrome support group for Spanish-speaking families. We continue to meet monthly and are growing by leaps and bounds.
- The Department of Medical Genetics will also be starting a multi-disciplinary clinic for children with velo-cardio-facial syndrome in April 1998.
- Recent publications from our staff: Kazunori Sango, M et al. (1996): Mice lacking both subunits of lysosomal beta-hexoaminidase display gangliosidosis and mucopolysaccharidosis. Nat Genet 14:348-352.
- North KN et al. (1997): Cognitive function and academic performance in neurofibromatosis 1: Consensus statement from the NF1 Cognitive Disorders Task Force. Neurol 48:1121-1127.
- Samango-Sprouse C and Suddaby E (1997): Developmental concerns in children with congenital heart disease. Curr Opin Cardio 12:91-98.
- Carrie Koval, MS has joined the UMDNJ-Newark team. She is a graduate of Mt. Holyoke College and the University of Pittsburgh training program. She formerly used her bilingual (English - Spanish) skills at Elmhurst Hospital in New York.
- Andrea de Vico, UMDNJ genetic counselor, and her husband Brian Charles welcomed their son Nicholas in May. They have since relocated to their hometown of Rochester, New York.
- Dr. Beth Pletcher, clinical geneticist, is the principle investigator on a three-year project directed at "Incorporating Genetics into Primary Care Practice". She will be assisted by Gisela Rodriguez, Dr. Frank Desposito, Carrie Koval, and Gilcrys Gilbert who is a bilingual genetic assistant. Funding for this project is provided by the Genetic Services Branch of the Maternal and Child Health Bureau of HRSA.
- Congratulations to Lorraine Suslak, Supervisor of Genetic Counselors at UMDNJ-Newark, on her election to the American Board of Genetic Counseling. Lorraine, we hope you'll have mercy on us when it's time to write those questions for the certification exam. Lorraine was one of three presenters of a practice-based symposium entitled, "The New Dysmorphology: Recent Advances in Mapping and Gene Isolation Give Insights into Etiologies of Birth Defects" at the NSGC Baltimore conference. Also at NSGC, Susan Schmerler, M.S., J.D. facilitated a workshop about "A Growing Need for Genetic Counselors with Assistive Reproductive Technology Facilities" and presented on "Greater Accessibility to Preimplantation Genetic Diagnosis".
- Sharon Suntag, MS, Genetic Counselor at St. Joseph's Medical Center, presented her work with Sue Schmerler on "Utilization of Foreign-Language Translators in the Prenatal Setting".
- Monica Magee is one of the authors of a paper published in the October 15, 1997 issue of JAMA. "Predisposition genetic testing for late-onset disorders in adults" is a position paper of the NSGC formulated by its Social Issues Committee.
- The North Jersey chapter of the March of Dimes has awarded a grant to the UMDNJ Genetics Program for the translation and production of brochures in Arabic about amniocentesis and the maternal serum triple screen. Gisela Rodriguez is the coordinator of that project.
- In January, St Peter's Medical Center welcomed Michele Horner, MS. In July, the staff there was joined by Dr. Joan Pellegrino who previously completed her fellowship in medical genetics at the Children's Hospital of Philadelphia.
- Angela Geist, Genetic Counselor formerly at Cooper Medical Center, had twin girls in September. Born at 33 weeks, both are doing fine. Angela is no longer working at Cooper - twins are a full time job, and son Matthew is 18 months old; he helps too.
- The Alliance of Genetic Support Groups is moving and expanding: January 1 is the target date for moving to our new office location at 4301 Connecticut Avenue, Suite 404, Washington, D.C., 20008. We will double current office space, giving us ample room to operate new program activities and comfortably house 7 full-time, 4 part-time staff, volunteers and interns. As of December 1 Janet Wegner joined staff as full-time Office Administrator and will orchestrate the installation of new office systems. The Alliance toll free helpline number (1-800-336-4363) will move with us. We will alert you next month to changes in e-mail addresses and telephone and fax numbers. A new multi-line telephone system will link callers directly to administrative and program staff while helpline calls will be answered by a live, warm human voice. The office move will be a challenge but we expect to bounce back--after a short adjustment period--more energetic, invigorated, empowered and better staffed than ever. When you're in DC, please come visit and see for yourselves!
Marginal Notes is a publication of the Education Committee of MARHGN, the MidAtlantic Regional Human Genetics Network. Funding for MARHGN is provided by Grant No. MCJ-421010 from the Maternal and Child Health Program (Title V, Social Security Act), Human Resources and Services Administration, Department of Health and Human Services.
Editor: Brenda Finucane, MS, Elwyn, Inc., Elwyn, PA
MARHGN Education Committee: Brenda Finucane, Chair
Cherie Mohan, Vice Chair
Members: Jana Burdge, Deborah Copenheaver, Jennifer Farmer, Laura Humbert, Ann Jewell, Sandra Marchese, Virginia K. Proud, Susan Sell, Frank Seydel, Mary Ann Wilson, Tillie Young