dr. Alfi Afadiyanti :: The Restless Traveller

dr. Alfi Afadiyanti

Genetic Research and Epilepsy

November 30th, 2010

Over the past decades, genetic knowledge of many disorders especially mental retardation (also known as learning disability or intellectual disability) and epilepsy has been upgraded gradually because of technology improvement.

Mental retardation (MR) and epilepsy are two diseases that are sometimes found in one patient. Those two conditions basically have a different pathogenesis, but they actually have relationship. About 1-3 percent of the general population has MR, 25.5 percent of them having epilepsy. What we do as a BPKLN or Indonesian Planning and Cooperation of Foreign Affairs Department grantee, is to study and reveal the underlying genetic defects, and focus on patients with both MR and epilepsy.

MR is a neuron developmental problem. According to the American Association of Intellectual and Developmental Disabilities, MR or intellectual disability is defined as a condition that is characterized by significant limitations both in intellectual functioning and adaptive behavior as expressed in conceptual, social and practical skills, which originate before age 18. Disruption of cognitive and adaptive performance is present in 2-3 percent of the human population. Those are grouped under the term Mental Retardation.

Epilepsy by definition is a brain disorder characterized predominantly by recurrent and unpredictable interruptions of normal brain functioning that is called epileptic seizures. Epilepsy affects almost 1 percent of the whole population around the world.

Up until now only a few studies on MR in Indonesia have been carried out by Indonesian researchers or in collaboration with researchers abroad. This is the first genetic study performed for MR and epilepsy on the Indonesian population so far.

Previous studies mostly focused on cases of epilepsy in Indonesia that did not involve mental retardation. Moreover, genetic assessments as an etiological diagnostic tool for MR and epilepsy have not been recognized as a routine diagnostics tool.

We encourage the Indonesian government to start supporting genetic research based on Indonesia’s multi-ethnic population, so that in the future we will be able to improve our knowledge about genetics in Indonesian society.

Alfi Afadiyanti
Nijmegen, the Netherlands

http://www.thejakartapost.com/news/2010/11/12/letter-genetic-research-and-epilepsy.html

Menkes BARU, ternyata orang IKM

October 23rd, 2009

 Siapa sih ibu Menkes kita yang baru?

Dokter lulusan UI tahun 1979, dan menyabet gelar Master of Public Health, serta mendapat gelar doktor di bidang sama di Harvard School of Public Health, Boston. (detik.com)

Ini kejutan lain tentang sosok Menteri Kesehatan yang baru dilantik Presiden SBY, Endang Rahayu Sedyaningsih. Sejak tahun 1999, Sedyaningsih banyak melakukan penelitian tentang Pekerja Seks Komersial di Kramat Tunggak.

Perempuan-perempuan Kramat Tunggak. Sebuah judul yang puitis, untuk sebuah karya yang sangat serius bagi penelitian tentang penyakit menular HIV/AIDS.

Buku ini diterbitkan oleh Pustaka Sinar Harapan dan The Ford Foundation, pada tahun 1999.

Penulisnya dua orang: Sedyaningsih-Mamahit, ER. Buku ini juga terbit dalam versi bahasa Inggris: Women of Kramat Tunggak.

Sederet penelitian dilakukan di Kramat Tunggak. Hasilnya, lahirlah banyak karya Sedyaningsih berkaitan dengan penyakit seks yang belum ditemukan obatnya itu.

Inilah beberapa karya intelektual Menteri Kesehatan Dr Endang Rahayu Sedyaningsih, DR.PH tentang penyakit Menular Seksual itu:

Sedyaningsih-Mamahit, ER. Female commercial sex workers in Kramat Tunggak, Jakarta, Indonesia. Social Science and Medicine (1999), 49(8), 1101-1114.

Sedyaningsih-Mamahit, ER. Perempuan-perempuan Kramat Tunggak (Women of Kramat Tunggak). Jakarta: Pustaka Sinar Harapan & The Ford Foundation, 1999.

Sedyaningsih-Mamahit, ER, Gortmaker, Determinants of safer-sex behavior of brother femalecommercial sex-workers in Jakarta, Indonesia. The Journal of Sex Research(1999), 36(2), 190-197.

Sedyaningsih-Mamahit, ER. Clients and brothel managers in Kramat Tunggak, Jakarta, Indonesia: Interweaving Qualitative With Quantitative Studies For PlanningSTD/AIDS Prevention Programs. Southeast Asian J. of Trop. Med. & Public Health.

Ini kejutan lain tentang sosok Menteri Kesehatan yang baru dilantik Presiden SBY, Endang Rahayu Sedyaningsih. Sejak tahun 1999, Sedyaningsih banyak melakukan penelitian tentang Pekerja Seks Komersial di Kramat Tunggak.

Sumber: inilah.com, detik.com

Opini saya:

“Jadi jangan kuatir Bu Siti Fadilah Supari, sepertinya Bu Endang ini jauh lebih capable dalam bidang PREVENTIF dan PROMOTIF dapripada KURATIF, dan juga banyak melakukan kerjasama asing yang tentunya akan sangat berguna bagi seluruh masyarakat INDONESIA.”

Seminar MLPA 19 Okt 2009

October 20th, 2009

Dear All, tepat satu hari yang lalu di laboratorium Bioteknologi CEBIOR FK Undip diadakan seminar MLPA.MLPA alias Multiplex ligation-dependent probe amplification, merupakan teknik yang ditemukan oleh MRC-Holland, dan dipresentasikan langsung oleh Dr. Jan Scouten (sang penemu MLPA dan pemilik MRC Holland).mlpa_in_genemarker.jpg