--PTs In The Study Of Genetic Disorders--
In addition to their roles as healt care providers and advocates for
patients with genetic disorders, PTs have a vital role to play in the
genetics reserch arena. Studies in genetics seek both a further
understanding of the genetic component of disease and disability and
identify effective interventions for those disorders. Below, two PTs who are
involved in researching genetic disorders provide a look at some past and
current studies.
Intramural Research at NIH by LCDR Michaele R Smith, PT
Genetic errors are responsible for an estimated 4,000 hereditary disaeses.(1)
Often classıfıed as "orphan dıseases," these dıseases typically recieve
little attention from privately funded investigators in the biomedical field.As
a result, little is known about these diseases or how best to treat them.
To address this problem, the National Center for Human Genome Research was
established by the National Institutes of Health (NIH) and the department of
Energy with the primary goal of identifying genes responsible for rare and
common hereditary disorders. The Human Genome Project, which began with a
plan to decode and map human genes,has been revised and expanded to explain
the role of genes in health and disease.
The Division of Intramural Research of the National Center for Human Genome
Research was estabilished in February 1993 to apply genome research to the
study of inherited disorders through clinical trials carried out at the NIH
Warren Grant Magnuson Clinical Center. In 1995, the National Center for
Human Genome Research became the National Human Genome Research Institute.
The Physical Therapy Section of the Rehabilitation Medicine Department at
the Clinical Center provides therapeutic services to patients in clinical
trials, including patient populations with rare disorders. PTs see patients
both to address clinical needs and to collect data for research protocols.
Physical therapy research is carried out either independently,
collaboratively, or though agrrements with the private sector. (For more on
the PTs in the intramural research program at NIH, see "A Foot in Both
Worlds," in the September 1998 PT)
In 1997, the National Human Genome Research Institute initiated two research
studies that involve PTs as integral members of the clinical research team.
One study is to investigate skeletal dysplasias, which are heritable
disorders of the skeleton that result from defects in bone and cartilage
formation. The purpose of the study is to determine the natural history of
the diseases and relationship between genotypes and phenotypes.
Investigators hope to generate a comprehensive description of skeletal
dysplasia in regard to the pathophysiology, course of disease, impairtmens,
disabilities, and other issues. Such and understanding might provide the
basis for additional research funding to study other are disorders.
As part of that study, researchers also are investigating type II collogen
disorders such as Stickler syndrome (hereditary ophthalmopathy). Onset of
the disease typically is within 10 days of birth; however, some patients
seen in conjunction with this study were diagnosed through genetic testing
in adulthood after the birth of their own children with the disorder. Other
onsets have been documented after orthopedic injuries or during competitive
sports or were initially misdiagnosed as simple arthralgia. The variability
in the onset of diagnosis is largely dependent on the phenotype of the
individual. (2,3)
The other study, the Heritable Connective Tissue Disorders protocol, was
initiated to study clinical and molecular genetic defects of heritable
connective tissue disorders. Currently, PTs provide therapeutic intervention
for these subjects. In addition, a pilot study investigating specific
musculoskletal deficits may develop as an outcome of physical therapy
questions generated from the research project. The current protocol includes
individuals with contractural arachnodactyly, Marfan, and Stickler syndromes,
and Ehlers-Danlos syndrome, the primary diagnosis of this protocol's subject
group. Ehler-Danlos syndrome is an inherited connective tissue disorder for
which the specific gene defect has not been found. (1,3,4)
Studies currently underway at NIH provide PTs with challenging clinical
populations and are generating a series of research questions. Eventually,
such information may benefit rehabilitation professions on a national and
international scale. Currently, these patients require careful differential
diagnosis and innovative treatment planning, as there are few evidence-based
practice guidlines for therapists to use as references. Though careful
observation and documentation, NIH therapists are obtaining critical
preliminary findings to support future therapeutic treatment of these
patients.
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LCDR Michacle R Smith, PT, is a commissioned officer in the officer in the
Office of Public Healt and Science (formerly known as the US Public Health
Service) and currently is the education coordinator of undergraduate,
graduate, and volunter students in the Physical Therapy Section of the
Rehabilitation Medicine Department at the Warren Grant Magnuson Clinical
Center, NIH.
REFERENCES
1-The Human Genome Project: From Maps to Medicine. Washington, DC: US
Department of Health and Human Services; 1996. DHHS/PHS Publication NO.
96-3897.
2-Jones K. Smith's Recognizable Patterns of Human Malformation. Philadelphia,
Pa:WB Saunders; 1997.
3-Schaumer H, Kuppel JH, Koopman WJ, et al. Primer in Rheumatic Diseas,
Tenth Edition. Atlanta, Ga: Arthritis Foundation; 1993:249-251.
4-Kelley WN. Textbook of Internal Medicine. Philedelphia, Pa:JB Lippincott;
1989
Thanks Mr. Ben MASSEY(President Of APTA) and Mrs. Kristyanne B. Maldonado(Director
Of APTA) for their interest.
