What is Medical Genetics? 

Medical genetics is the branch of genetics that deals with the diagnosis, prevention, and treatment of genetic disorders. It is an area of medicine that is concerned with the study of genetic variation, and how it can lead to various diseases and conditions. 

In this article, we will explore the world of medical genetics, from its history to the present day, and examine the various techniques and technologies that are used to diagnose and treat genetic disorders. 

The History of Medical Genetics 

The study of genetics has a long and rich history, dating back to the 19th century, when the Augustinian monk, Gregor Mendel, discovered the basic principles of heredity. However, it wasn't until the mid-20th century that medical genetics began to emerge as a distinct field of study. 

In the 1940s and 50s, researchers began to discover the genetic basis of several disorders, such as sickle cell anemia and phenylketonuria (PKU). These discoveries led to the development of new diagnostic tests and treatments for these conditions. 

In the decades that followed, advances in technology, such as DNA sequencing and genome editing, have transformed the field of medical genetics, opening up new avenues for research and treatment. 

The Basics of Genetics 

Before we dive into the world of medical genetics, it's important to have a basic understanding of how genetics works. At its core, genetics is the study of how traits are passed down from one generation to the next. 

Every cell in our body contains DNA, which is the genetic material that carries the instructions for how our bodies develop and function. DNA is made up of four chemical building blocks, called nucleotides, which form a long, twisted molecule known as a double helix. 

The sequence of these nucleotides determines the genetic code, which contains the instructions for building and maintaining our bodies. The genetic code is read by the cell's machinery and translated into proteins, which carry out many of the functions of the body. 

Types of Genetic Disorders 

There are many different types of genetic disorders, ranging from relatively mild conditions, such as color blindness, to severe and life-threatening diseases, such as cystic fibrosis and Huntington's disease. 

Some genetic disorders are caused by a mutation in a single gene, while others are caused by multiple genes, or a combination of genes and environmental factors. Some genetic disorders are inherited in a simple, predictable pattern, while others are more complex and difficult to predict. 

Diagnosis of Genetic Disorders 

Diagnosing genetic disorders can be a complex and challenging process, but there are many techniques and technologies available to help healthcare professionals make an accurate diagnosis. 

One of the most common diagnostic tools is genetic testing, which involves analyzing a person's DNA to identify mutations or other abnormalities that may be causing their symptoms. 

Other diagnostic techniques may include imaging tests, such as X-rays or MRIs, or blood tests to measure levels of certain proteins or other biomarkers. 

Treatment of Genetic Disorders 

There is currently no cure for most genetic disorders, but there are many treatments available that can help manage symptoms and improve quality of life. 

One of the most common treatments is medication, which may be used to alleviate symptoms or slow the progression of the disease. In some cases, surgery may also be necessary to correct physical abnormalities or remove tumors. 

In recent years, there has been a growing interest in gene therapy, which involves replacing or repairing defective genes to treat or cure genetic disorders. While gene therapy is still a relatively new field, it shows promise for treating a wide range of genetic disorders. 

Top Medical Geneticist In Santa Ana, CA 

1. Dr. Stephanie Van Der Hoek, Medical Geneticist, North Shore University Hospital, 300 Community Drive, Manhasset, NY 11030 
2. Dr. David J. Adams, Medical Geneticist, Geisinger Medical Center, 100 North Academy Avenue, Danville, PA 17822 
3. Dr. Robert S. Bresalier, Medical Geneticist, University of Kentucky, 800 Rose Street, Lexington, KY 40536 
4. Dr. John G. Baumgartner, Medical Geneticist, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 
5. Dr. John F. Burke, Medical Geneticist, University of Washington Medical Center, 1959 NE Pacific Street, Seattle, WA 98195 
6. Dr. Elizabeth B. Engle, Medical Geneticist, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115 
7. Dr. Stephen R. Quake, Medical Geneticist, Stanford University, 1265 Welch Road, Stanford, CA 94305 
8. Dr. Christine Eng, Medical Geneticist, University of California San Francisco, 505 Parnassus Avenue, San Francisco, CA 94143 
9. Dr. David L. Rimoin, Medical Geneticist, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048 
10. Dr. Michael J. Bamshad, Medical Geneticist, Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA 98105 
11. Dr. James R. Lupski, Medical Geneticist, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 
12. Dr. Charles A. Scriver, Medical Geneticist, McGill University, 3655 Promenade Sir William Osler, Montreal, QC H3G 1Y6, Canada 
13. Dr. Peter S. Harper, Medical Geneticist, University of Birmingham, Edgbaston, Birmingham B15 2TT, United Kingdom 
14. Dr. Geoffrey S. Ginsburg, Medical Geneticist, Duke University Medical Center, Durham, NC 27710 
15. Dr. Martha A. Zeiger, Medical Geneticist, University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104 
16. Dr. Maureen A. Cleary, Medical Geneticist, University of Colorado, Anschutz Medical Campus, 12700 East 19th Avenue, Aurora, CO 80045 
17. Dr. Charles J. Epstein, Medical Geneticist, University of California San Francisco, 505 Parnassus Avenue, San Francisco, CA 94143 
18. Dr. Jeffrey R. Botkin, Medical Geneticist, University of Utah, 30 North 1900 East, Salt Lake City, UT 84132 
19. Dr. Arthur L. Beaudet, Medical Geneticist, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 
20. Dr. Richard J. Paules, Medical Geneticist, University of North Carolina, 101 Manning Drive, Chapel Hill, NC 27599 
21. Dr. Kenneth J. Koehler, Medical Geneticist, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390 
22. Dr. Robert C. Green, Medical Geneticist, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115 
23. Dr. Alan R. Shuldiner, Medical Geneticist, University of Maryland School of Medicine, 655 West Baltimore Street, Baltimore, MD 21201 
24. Dr. M. Andrew McLeod, Medical Geneticist, University of Toronto, 155 College Street, Toronto, ON M5T 1P8, Canada 
25. Dr. Karen Gripp, Medical Geneticist, Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104 
26. Dr. Sharon E. Plon, Medical Geneticist, Stanford University, 1265 Welch Road, Stanford, CA 94305 
27. Dr. Meriel M. McEntagart, Medical Geneticist, University College London, Gower Street, London WC1E 6BT, United Kingdom 
28. Dr. Mary-Claire King, Medical Geneticist, University of Washington, Box 357320, Seattle, WA 98195 
29. Dr. Mark A. Ratain, Medical Geneticist, University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637 
30. Dr. Stephen W. Scherer, Medical Geneticist, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada 
31. Dr. Jennifer L. Kelso, Medical Geneticist, Vanderbilt University Medical Center, 1161 21st Avenue South, Nashville, TN 37232 
32. Dr. Elaine H. Zackai, Medical Geneticist, Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104 
33. Dr. Alan H. Beggs, Medical Geneticist, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115 
34. Dr. Carol J. Saunders, Medical Geneticist, University of Utah, 30 North 1900 East, Salt Lake City, UT 84132 
35. Dr. Mary-Louise Greer, Medical Geneticist, University of Toronto, 155 College Street, Toronto, ON M5T 1P8, Canada 
36. Dr. David R. Cox, Medical Geneticist, Stanford University, 1265 Welch Road, Stanford, CA 94305 
37. Dr. Richard A. Gibbs, Medical Geneticist, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 
38. Dr. D. Holmes Morton, Medical Geneticist, Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104 
39. Dr. John M. Opitz, Medical Geneticist, University of Utah, 30 North 1900 East, Salt Lake City, UT 84132 
40. Dr. Michael J. Bamshad, Medical Geneticist, Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA 98105 
41. Dr. Gregory M. Cooper, Medical Geneticist, University of Washington Medical Center, 1959 NE Pacific Street, Seattle, WA 98195 
42. Dr. Michael R. Hayden, Medical Geneticist, University of British Columbia, 2176 Health Sciences Mall, Vancouver, BC V6T 1Z3, Canada 
43. Dr. Louise B. Strong, Medical Geneticist, Duke University Medical Center, Durham, NC 27710 
44. Dr. Ting Wu, Medical Geneticist, Harvard Medical School, 25 Shattuck Street, Boston, MA 02115 
45. Dr. Deborah A. Nickerson, Medical Geneticist, University of Washington, Box 357320, Seattle, WA 98195 
46. Dr. Robert C. Green, Medical Geneticist, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115 
47. Dr. Stephen W. Scherer, Medical Geneticist, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada 
48. Dr. David G. Hunter, Medical Geneticist, Harvard School of Public Health, 677 Huntington Avenue, Boston, MA 02115 
49. Dr. Alan P. Thomas, Medical Geneticist, University College London, Gower Street, London WC1E 6BT, United Kingdom 
50. Dr. Michael B. Bracken, Medical Geneticist, Yale School of Medicine, 333 Cedar Street, New Haven, CT 06520 
51. Dr. Charles A. Scriver, Medical Geneticist, McGill University, 3655 Promenade Sir William Osler, Montreal, QC H3G 1Y6, Canada 
52. Dr. Stephen R. Quake, Medical Geneticist, Stanford University, 1265 Welch Road, Stanford, CA 94305 
53. Dr. Peter S. Harper, Medical Geneticist, University of Birmingham, Edgbaston, Birmingham B15 2TT, United Kingdom 
54. Dr. Kenneth J. Koehler, Medical Geneticist, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390 
55. Dr. Jeffrey R. Botkin, Medical Geneticist, University of Utah, 30 North 1900 East, Salt Lake City, UT 84132 
56. Dr. Alan R. Shuldiner, Medical Geneticist, University of Maryland School of Medicine, 655 West Baltimore Street, Baltimore, MD 21201 
57. Dr. Christine Eng, Medical Geneticist, University of California San Francisco, 505 Parnassus Avenue, San Francisco, CA 94143 
58. Dr. David J. Adams, Medical Geneticist, Geisinger Medical Center, 100 North Academy Avenue, Danville, PA 17822 
59. Dr. John F. Burke, Medical Geneticist, University of Washington Medical Center, 1959 NE Pacific Street, Seattle, WA 98195 
60. Dr. Robert S. Bresalier, Medical Geneticist, University of Kentucky, 800 Rose Street, Lexington, KY 40536 
61. Dr. John G. Baumgartner, Medical Geneticist, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 
62. Dr. Stephen J. Chanock, Medical Geneticist, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892 
63. Dr. Wendy K. Chung, Medical Geneticist, Columbia University, 630 West 168th Street, New York, NY 10032 
64. Dr. Maureen A. Cleary, Medical Geneticist, University of Colorado, Anschutz Medical Campus, 12700 East 19th Avenue, Aurora, CO 80045 
65. Dr. Karen Gripp, Medical Geneticist, Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104 
66. Dr. Michael J. Bamshad, Medical Geneticist, Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA 98105 
67. Dr. Stephen E. Kingsmore, Medical Geneticist, Children's Mercy Hospital, 2401 Gillham Road, Kansas City, MO 64108 
68. Dr. James R. Lupski, Medical Geneticist, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 
69. Dr. Martha A. Zeiger, Medical Geneticist, University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104 
70. Dr. Elizabeth B. Engle, Medical Geneticist, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115 
71. Dr. Arthur L. Beaudet, Medical Geneticist, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 
72. Dr. Mark A. Ratain, Medical Geneticist, University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637 
73. Dr. Louise B. Strong, Medical Geneticist, Duke University Medical Center, Durham, NC 27710 
74. Dr. M. Andrew McLeod, Medical Geneticist, University of Toronto, 155 College Street, Toronto, ON M5T 1P8, Canada 
75. Dr. Alan H. Beggs, Medical Geneticist, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115 
76. Dr. Mary-Louise Greer, Medical Geneticist, University of Toronto, 155 College Street, Toronto, ON M5T 1P8, Canada 
77. Dr. David R. Cox, Medical Geneticist, Stanford University, 1265 Welch Road, Stanford, CA 94305 
78. Dr. Richard A. Gibbs, Medical Geneticist, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 
79. Dr. D. Holmes Morton, Medical Geneticist, Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104 
80. Dr. John M. Opitz, Medical Geneticist, University of Utah, 30 North 1900 East, Salt Lake City, UT 84132 
81. Dr. Deborah A. Nickerson, Medical Geneticist, University of Washington, Box 357320, Seattle, WA 98195 
82. Dr. Michael R. Hayden, Medical Geneticist, University of British Columbia, 2176 Health Sciences Mall, Vancouver, BC V6T 1Z3, Canada 
83. Dr. Ting Wu, Medical Geneticist, Harvard Medical School, 25 Shattuck Street, Boston, MA 02115 
84. Dr. Jennifer L. Kelso, Medical Geneticist, Vanderbilt University Medical Center, 1161 21st Avenue South, Nashville, TN 37232 
85. Dr. Stephen J. Chanock, Medical Geneticist, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892 
86. Dr. Wendy K. Chung, Medical Geneticist, Columbia University, 630 West 168th Street, New York, NY 10032 
87. Dr. Richard J. Paules, Medical Geneticist, University of North Carolina, 101 Manning Drive, Chapel Hill, NC 27599 
88. Dr. Meriel M. McEntagart, Medical Geneticist, University College London, Gower Street, London WC1E 6BT, United Kingdom 
89. Dr. Mary-Claire King, Medical Geneticist, University of Washington, Box 357320, Seattle, WA 98195 
90. Dr. Gregory M. Cooper, Medical Geneticist, University of Washington Medical Center, 1959 NE Pacific Street, Seattle, WA 98195 
91. Dr. David G. Hunter, Medical Geneticist, Harvard School of Public Health, 677 Huntington Avenue, Boston, MA 02115 
92. Dr. Stephen W. Scherer, Medical Geneticist, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada 
93. Dr. Alan P. Thomas, Medical Geneticist, University College London, Gower Street, London WC1E 6BT, United Kingdom 
94. Dr. Michael B. Bracken, Medical Geneticist, Yale School of Medicine, 333 Cedar Street, New Haven, CT 06520 
95. Dr. David L. Rimoin, Medical Geneticist, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048 
96. Dr. Elaine H. Zackai, Medical Geneticist, Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104 
97. Dr. Carol J. Saunders, Medical Geneticist, University of Utah, 30 North 1900 East, Salt Lake City, UT 84132 
98. Dr. Stephen R. Quake, Medical Geneticist, Stanford University, 1265 Welch Road, Stanford, CA 94305 
99. Dr. Geoffrey S. Ginsburg, Medical Geneticist, Duke University Medical Center, Durham, NC 27710 
100. Dr. Stephanie Van Der Hoek, Medical Geneticist, North Shore University Hospital, 300 Community Drive, Manhasset, NY 11030